| Description | SNP-phenotype associations curated by ClinVar users from various sources |
| Measurement | genetic association by literature curation |
| Association | gene-phenotype associations by crowd-sourced curation |
| Category | disease or phenotype associations |
| Resource | ClinVar |
| Citation(s) | |
| Last Updated | 2025 Sep 09 |
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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
5719 sets of genes associated with phenotypes from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
| Gene Set | Description |
|---|---|
| Hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| Macular dystrophy | Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. |
| Mitochondrial complex I deficiency | |
| Leigh syndrome | |
| HFE POLYMORPH | |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Hereditary hemochromatosis | |
| Incidental Discovery | |
| PHARC syndrome | |
| Primary hyperoxaluria | OMIM mapping confirmed by DO. [SN]. |
| Retinitis pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| Retinal dystrophy | |
| Autosomal recessive retinitis pigmentosa | |
| Cone-rod dystrophy | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive primary microcephaly | |
| Combined oxidative phosphorylation defect | |
| Abnormal brain morphology | any structural anomaly of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) |
| Epileptic encephalopathy | |
| Spastic paraplegia | Spasticity and weakness of the leg and hip muscles. |
| Seckel syndrome | An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. |
| Senior-Loken syndrome | An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. |
| Bardet-Biedl syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Familial porphyria cutanea tarda | |
| Wolman disease | |
| Lysosomal acid lipase deficiency | Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. |
| Cholesteryl ester storage disease | |
| Urofacial syndrome | An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. |
| Congenital anomaly of kidney and urinary tract | |
| Farber lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| TCN2 POLYMORPH | |
| Transcobalamin II deficiency | A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. |
| Pheochromocytoma | Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. |
| Hereditary pheochromocytoma-paraganglioma | |
| Hereditary cancer-predisposing syndrome | |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| HYPERHOMOCYSTEINE | |
| Classic homocystinuria | |
| Familial thoracic aortic aneurysm and aortic dissection | |
| Intellectual disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| Connective tissue disorder | |
| Thoracic aortic aneurysm or dissection | |
| Autosomal recessive nonsyndromic hearing loss | |
| Rare genetic deafness | |
| Brown-Vialetto-van Laere syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ornithine aminotransferase deficiency | |
| Hyperornithinemia | Increased concentration of ornithine in the blood. |
| Gyrate atrophy of choroid and retina | |
| Dihydropyrimidinase deficiency | |
| Frank-Ter Haar syndrome | |
| Joubert syndrome | An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). |
| Meckel syndrome | An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. |
| Prolidase deficiency | |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Autism | A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old. |
| Amelogenesis imperfecta hypomaturation | |
| METHEMOGLOBINE | |
| CYB5R3 POLYMORPH | |
| Deficiency of cytochrome-b5 reductase | |
| Xeroderma pigmentosum | An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
| Primary ciliary dyskinesia | An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
| Dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| Primary dilated cardiomyopathy | |
| Cardiovascular phenotype | |
| Primary familial dilated cardiomyopathy | |
| Cardiomyopathy | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| Desbuquois dysplasia | |
| Von Willebrand disease | |
| Hereditary von Willebrand disease | |
| Von Willebrand disorder | |
| Abnormality of coagulation | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| Abnormal bleeding | |
| Thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| Abnormality of blood and blood-forming tissues | An abnormality of the hematopoietic system. |
| Von Willebrand factor Vicenza | |
| Reduced quantity of Von Willebrand factor | Decreased quantity of von Willebrand factor. |
| Reduced von Willebrand factor activity | Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Charcot-Marie-Tooth disease | |
| Hereditary sensory and autonomic neuropathy | |
| Neurofibromatosis | |
| Neurofibroma | A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)|An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.|A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). |
| Cafe au lait spots | |
| Axillary freckling | The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Optic nerve glioma | |
| Juvenile myelomonocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| Cafe-au-lait macules | |
| Neurofibromatosis-Noonan syndrome | |
| Neoplasm | A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. |
| Tibial pseudarthrosis | |
| Rhabdomyosarcoma | |
| Abnormality of the skin | An abnormality of the skin. |
| Gastric cancer | disease cluster belonging to disease group cancer |
| Galactosialidosis | |
| Combined deficiency of sialidase AND beta galactosidase | |
| MORM syndrome | |
| Joubert syndrome and related disorders | |
| Pheochromocytoma/paraganglioma syndrome | |
| Tyrosinemia | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
| Autosomal recessive optic atrophy | |
| Glycogen storage disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | |
| Dihydropyrimidine dehydrogenase deficiency | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
| Fluorouracil response | |
| Hirschsprung disease | |
| Tegafur response - Toxicity | |
| Fluorouracil response - Toxicity | |
| Fluorouracil response - Other | |
| Capecitabine response - Toxicity | |
| AUBERGER BLOOD GROUP POLYMORPHISM Au | |
| LuLu phenotype | |
| BLOOD GROUP--LUTHERAN SYS | |
| Thyroglobulin synthesis defect | |
| Familial thyroid dyshormonogenesis | |
| Hennekam lymphangiectasia-lymphedema syndrome | |
| Harderoporphyria | |
| Hereditary coproporphyria | OMIM mapping confirmed by DO. [SN]. |
| CPOX-related hereditary coproporphyria | |
| Coproporphyria | |
| Hereditary fructosuria | |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | |
| Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | |
| GTP cyclohydrolase I deficiency | |
| Dihydropteridine reductase deficiency | Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. |
| Respiratory ciliopathies including non-CF bronchiectasis | |
| Hereditary spherocytosis | A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. |
| SPHEROCYTO | |
| Methylmalonic aciduria and homocystinuria | |
| Cobalamin C disease | |
| Mitochondrial complex V | |
| Neurodevelopmental disorder | |
| Protoporphyria | |
| H syndrome | |
| Phenylketonuria | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
| Pituitary hormone deficiency | |
| Polymicrogyria | A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. |
| Hyperphenylalaninemia | An increased concentration of L-phenylalanine in the blood. |
| Pulmonary hypertension | Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. |
| Mild non-PKU hyperphenylalanemia | |
| Mild hyperphenylalaninemia | |
| Marfanoid habitus and intellectual disability | |
| Ischemic stroke | |
| Budd-Chiari syndrome | |
| Pregnancy loss | disease cluster belonging to disease group reproduction |
| Thrombophilia due to activated protein C resistance | |
| Factor V deficiency | OMIM mapping confirmed by DO. [SN]. |
| Susceptibility to severe coronavirus disease | |
| Hormonal contraceptives for systemic use response - Toxicity | |
| Congenital factor V deficiency | |
| Thrombophilia due to protein C deficiency | |
| Reduced protein C activity | |
| Hereditary thrombophilia due to congenital protein C deficiency | |
| Abnormal thrombosis | Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). |
| Cerebral palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| Thromboembolism | The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| FU1/FU2 POLYMORPH | |
| Geleophysic dysplasia | Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). |
| Lethal short-limb skeletal dysplasia | |
| Mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| Morquio syndrome | |
| Mitochondrial complex III deficiency nuclear | |
| Arrhythmogenic right ventricular dysplasia | |
| Arrhythmogenic right ventricular cardiomyopathy | An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. |
| Familial isolated arrhythmogenic right ventricular dysplasia | |
| Hypertrophic cardiomyopathy | A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| Iodotyrosine deiodination defect | |
| Meckel-Gruber syndrome | |
| COACH syndrome | |
| Joubert syndrome 9/ | |
| Parkinson disease | |
| Abnormality of the nervous system | An abnormality of the nervous system. |
| Homocystinuria-megaloblastic anemia cblD | |
| Amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| RFT1-congenital disorder of glycosylation | |
| Familial adenomatous polyposis | An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
| Gardner syndrome | Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term). |
| APC-Associated Polyposis Disorders | |
| Classic or attenuated familial adenomatous polyposis | |
| Colorectal cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| Familial multiple polyposis syndrome | |
| Carcinoma of colon | |
| Brain tumor-polyposis syndrome | |
| Hepatocellular carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| Neoplasm of stomach | |
| Desmoid disease | |
| Periampullary adenoma | |
| Adenomatous polyposis coli | |
| Intestinal polyp | A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. |
| Duodenal polyposis | Presence of multiple polyps in the duodenum. |
| Adenomatous colonic polyposis | Presence of multiple adenomatous polyps in the colon. |
| Hyperplastic colonic polyposis | Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. |
| Gastric polyposis | |
| Colon adenocarcinoma | A colon carcinoma that derives_from epithelial cells of glandular origin. |
| Progressive myoclonic epilepsy | |
| Cutis laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| ALG9 congenital disorder of glycosylation | |
| Wrinkly skin syndrome | Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). |
| Spinocerebellar ataxia | A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination. |
| Congenital defect of folate absorption | |
| Fructose-biphosphatase deficiency | |
| Congenital anomalies of kidney and urinary tract | |
| Renal hypodysplasia/aplasia | |
| Metachromatic leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| Pontocerebellar hypoplasia | |
| Non-immune hydrops fetalis | |
| Autosomal recessive congenital ichthyosis | |
| Lamellar ichthyosis | |
| CARBONIC ANHYDRASE II VARI | |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| Infantile GM1 gangliosidosis | |
| GM1 gangliosidosis | |
| Spondyloepiphyseal dysplasia | |
| GM1-gangliosidosis | |
| Spastic ataxia | |
| Tyrosinase-positive oculocutaneous albinism | |
| SKIN/HAIR/EYE PIGMENTATION | |
| Oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| Albinism or congenital nystagmus | |
| Nonsyndromic Oculocutaneous Albinism | |
| Leber congenital amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Fanconi anemia complementation group | |
| Fanconi anemia | |
| Age related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| Cernunnos-XLF deficiency | |
| Severe combined immunodeficiency disease | |
| Xeroderma pigmentosum group | |
| Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
| Late-infantile neuronal ceroid lipofuscinosis | |
| Schinzel-Giedion syndrome | Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. |
| Fetal akinesia deformation sequence | |
| Arthrogryposis multiplex congenita | |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| Focal segmental glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| Charcot-Marie-Tooth disease dominant intermediate | |
| Kidney disorder | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| Leukoencephalopathy | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| Dysmetria | A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. |
| Gait imbalance | |
| Gait ataxia | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Abnormality of prenatal development or birth | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Retinitis pigmentosa in ciliopathies | |
| Nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| Glycogen storage disease IIIa | |
| Glycogen storage disease IIIb | |
| Charcot-Marie-Tooth disease axonal | |
| Amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| Inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| Matthew-Wood syndrome | |
| Hydrolethalus syndrome | An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. |
| Inability to walk | Incapability to ambulate. |
| Visual impairment | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| Abnormal cardiovascular system morphology | any structural anomaly of the heart or vascular tissue |
| Polydactyly | |
| Ritscher-Schinzel syndrome | |
| F12 POLYMORPH | |
| Hereditary angioedema | OMIM mapping confirmed by DO. [SN]. |
| Factor XII deficiency disease | |
| Hereditary angioneurotic edema | |
| Deficiency of steroid 11-beta-monooxygenase | |
| Glucocorticoid-remediable aldosteronism | OMIM mapping confirmed by DO. [SN]. |
| Congenital adrenal hyperplasia | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. |
| Ear malformation | |
| Hepatic methionine adenosyltransferase deficiency | |
| Kufor-Rakeb syndrome | |
| Autosomal recessive spastic paraplegia | |
| Neurodegeneration | a retrogressive impairment of function or destruction of neural tissue |
| Congenital dyserythropoietic anemia | A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. |
| Cowden syndrome | |
| Sanfilippo syndrome | |
| Familial cancer of breast | |
| Breast-ovarian cancer | |
| Pancreatic cancer | An endocrine gland cancer located_in the pancreas. |
| Inherited breast cancer and ovarian cancer | |
| Hereditary breast ovarian cancer syndrome | |
| Osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Aicardi-Goutieres syndrome | An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. |
| Aicardi Goutieres syndrome | |
| Autism spectrum disorder | A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. |
| Peters plus syndrome | Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism. |
| Congenital myasthenic syndrome | A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). |
| Rett syndrome | A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. |
| Hyperphosphatasia | |
| Hyperphosphatasia-intellectual disability syndrome | |
| Deafness | An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.|An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears.|A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| Aminoglycoside-induced deafness | |
| Congenital hereditary endothelial dystrophy of cornea | |
| Corneal dystrophy-perceptive deafness syndrome | |
| Corneal dystrophy | |
| Bardet-biedl syndrome 6/ | |
| COG7 congenital disorder of glycosylation | |
| Blindness | |
| Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Central hypotonia | Reduced muscle tone secondary to an abnormality of the central nervous system. |
| Molar tooth sign on | |
| CEP290-related ciliopathy | |
| Polycystic kidney disease | An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. |
| Severe hydrocephalus | |
| Encephalocele | A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. |
| Autoimmune disease | |
| Succinate-semialdehyde dehydrogenase deficiency | |
| Renal hypomagnesemia | |
| Prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| RHYNS syndrome | |
| Renal cyst | |
| Oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| Iron-refractory iron deficiency anemia | |
| Microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| Sucrase-isomaltase deficiency | |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINU | |
| Disorders of Intracellular Cobalamin Metabolism | |
| Methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Atypical hemolytic-uremic syndrome | |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| CblC combined methylmalonic aciduria and homocystinuria | |
| Abnormality of metabolism/homeostasis | |
| Autosomal recessive hypophosphatemic bone disease | |
| Coenzyme Q10 deficiency | |
| Multiple system atrophy | OMIM mapping confirmed by DO. [LS]. |
| Acute intermittent porphyria | |
| Encephalopathy | |
| Acyl-CoA oxidase deficiency | |
| Mitchell syndrome | |
| Pyruvate kinase deficiency of red cells | |
| Congenital anemia | |
| Pyruvate kinase hyperactivity | Autosomal dominant phenotype characterized by increase of red blood cell ATP. |
| Hyperlipoproteinemia | An abnormal increase in the level of lipoprotein cholesterol in the blood. |
| Hyperlipidemia | Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. |
| Coronary heart disease | |
| LIPOPROTEIN LIPASE | |
| Hawkinsinuria | |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| Hydatidiform mole | |
| L-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). |
| 3M syndrome | |
| 3-M syndrome | An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. |
| Very long chain acyl-CoA dehydrogenase deficiency | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. |
| Rhabdomyolysis | Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. |
| Abnormal circulating enzyme concentration | |
| Sjogren-Larsson syndrome | OMIM mapping confirmed by DO. [LS]. |
| Torsion dystonia | |
| Vitamin D-dependent rickets | |
| Beta-D-mannosidosis | |
| Deficiency of alpha-mannosidase | |
| DE SANCTIS-CACCHIONE SYNDR | |
| Cockayne syndrome | An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
| Cerebrooculofacioskeletal syndrome | |
| UV-sensitive syndrome | |
| LUNG CAN | |
| Preeclampsia/eclampsia | |
| Yunis-Varon syndrome | |
| Bilateral parasagittal parieto-occipital polymicrogyria | |
| Roberts-SC phocomelia syndrome | |
| Juberg-Hayward syndrome | |
| Intrinsic factor deficiency | |
| Hereditary intrinsic factor deficiency | |
| Orthostatic hypotension | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| Lynch syndrome | |
| Hereditary nonpolyposis colorectal neoplasms | |
| Muir-Torre syndrome | OMIM mapping confirmed by DO. [SN]. |
| Mismatch repair cancer syndrome | |
| Hereditary nonpolyposis colon cancer | Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms). |
| MSH2 POLYMORPH | |
| Breast carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| Early myoclonic encephalopathy | |
| Developmental and epileptic encephalopathy | |
| 17-alpha-hydroxylase/ | |
| Deficiency of steroid 17-alpha-monooxygenase | |
| Breast cancer | A thoracic cancer that originates in the mammary gland. |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| Legius syndrome | Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. |
| Noonan syndrome and Noonan-related syndrome | |
| Neurodevelopmental delay | |
| Lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| Hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| Chudley-McCullough syndrome | |
| Hearing loss | A general term for the complete or partial loss of the ability to hear from one or both ears. |
| Wooly hair | |
| Hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| Renal dysplasia and retinal aplasia | |
| Glucocorticoid deficiency | disease cluster belonging to disease group metabolic |
| Trichothiodystrophy | |
| D-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. |
| METHYLMALONIC ACIDU | |
| Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | |
| Paroxysmal nonkinesigenic dyskinesia | |
| Paroxysmal dyskinesia | Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. |
| Episodic hemiplegia | Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. |
| Paroxysmal dystonia | A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. |
| Biotinidase deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Holocarboxylase synthetase deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | |
| Methylcrotonyl-CoA carboxylase deficiency | |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | |
| Autosomal dominant Parkinson disease | |
| Young-onset Parkinson disease | |
| 3-methylglutaconic aciduria | |
| Cone-rod synaptic disorder | |
| Severe combined immunodeficiency | A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. |
| Partial adenosine deaminase deficiency | |
| SCID due to ADA deficiency | |
| Adenosine deaminase 2 allozyme | |
| BNAR syndrome | BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms). |
| Trigonocephaly | Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. |
| Oculotrichoanal syndrome | |
| Familial hemophagocytic lymphohistiocytosis | |
| Autoinflammatory syndrome | |
| Autosomal recessive limb-girdle muscular dystrophy | |
| Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Typical Joubert syndrome MRI findings | |
| Rod-cone dystrophy | |
| Neutral 1 amino acid transport defect | |
| Iminoglycinuria | |
| Hyperglycinuria | An increased concentration of glycine in the urine. |
| CHARGE syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. |
| Hypogonadotropic hypogonadism | |
| Abnormality of the eye | |
| Diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Myoclonic epilepsy | |
| Juvenile myoclonic epilepsy | A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. |
| Absence seizure | |
| Glutaric aciduria | An increased concentration of glutaric acid in the urine. |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS | |
| BLOOD GROUP--LUTHERAN INHIBI | |
| Pyruvate carboxylase deficiency | Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. |
| Taq1A POLYMORPH | |
| Schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| Transposition of the great arteries | A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. |
| Impaired intellectual development and distinctive facial features | |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| Pyruvate dehydrogenase E3-binding protein deficiency | Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. |
| Olivopontocerebellar hypoplasia | Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. |
| Congenital cerebellar hypoplasia | |
| Amblyopia | |
| Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Pontoneocerebellar hypoplasia | |
| TSEN54 Pontocerebellar Hypoplasia | |
| Late-onset retinal degeneration | |
| ALG3-congenital disorder of glycosylation | |
| Vitamin D hydroxylation-deficient rickets | |
| Dyslexia | |
| Cornelia de Lange syndrome | A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. |
| Peroxisome biogenesis disorder | |
| Peroxisome biogenesis disorder 7A | |
| Gnathodiaphyseal dysplasia | |
| Miyoshi muscular dystrophy | |
| Elevated circulating creatine kinase concentration | |
| Lower limb amyotrophy | Muscular atrophy affecting the lower limb. |
| Lower limb muscle weakness | Weakness of the muscles of the legs. |
| Achilles tendon contracture | A contracture of the Achilles tendon. |
| ANO5-related muscular dystrophy | |
| ANO5 Muscle disease | |
| Polycystic liver disease | |
| Gaze palsy | |
| Bietti crystalline corneoretinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Occult macular dystrophy | A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. |
| Optic atrophy | Xref MGI. |
| Arthrogryposis | Persistent flexure or contracture of a joint. (Dorland, 27th ed) |
| Keratoderma-ichthyosis-deafness syndrome | |
| Cholestasis | |
| Warfarin response | |
| Venous thromboembolism | Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. |
| Acenocoumarol response - Dosage | |
| Warfarin response - Efficacy | |
| Thrombus | |
| Phenprocoumon response - Toxicity | |
| Phenprocoumon response - Dosage | |
| Warfarin response - Toxicity | |
| Warfarin response - Dosage | |
| Vitamin K-dependent clotting factors | |
| Papillary renal cell carcinoma | A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. |
| Von Hippel-Lindau syndrome | |
| Chuvash polycythemia | |
| Familial infantile myasthenia | |
| Nonpapillary renal cell carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Au-Kline syndrome | |
| RENAL CELL CARCIN | |
| Hepatoblastoma | |
| Enchondromatosis | |
| Granulomatous disease | |
| Chronic granulomatous disease | A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. |
| CYBA POLYMORPH | |
| Very early onset inflammatory bowel disease | |
| Hereditary motor and sensory neuropathy | |
| Peripheral axonal neuropathy | |
| Multiple symmetric lipomatosis | OMIM mapping confirmed by DO. [SN]. |
| Tip-toe gait | An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait. |
| Epilepsy | A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures |
| Distal spinal muscular atrophy | |
| Hereditary skeletal muscle disorder | |
| McArdle disease | |
| Ethylmalonic encephalopathy | |
| Emery-Dreifuss muscular dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| Autosomal recessive ataxia | |
| Ehlers-Danlos syndrome | A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | |
| Nephrotic syndrome | Xref MGI. |
| Congenital stationary night blindness | A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. |
| Congenital sensorineural hearing impairment | A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. |
| Hearing impairment | A decreased magnitude of the sensory perception of sound. |
| Pigmentary retinopathy | |
| Abnormal macular morphology | |
| Retinal pigment epithelial atrophy | |
| Cone dystrophy | A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. |
| CERKL-related retinopathy | |
| Juvenile hemochromatosis | |
| Maple syrup urine disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Arginase deficiency | |
| Argininosuccinate lyase deficiency | |
| Autosomal recessive early-onset Parkinson disease | |
| Congenital hyperammonemia | |
| Hyperammonemia | An increased concentration of ammonia in the blood. |
| Congenital fibrosis of extraocular muscles | Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. |
| Fibrosis of extraocular muscles | |
| Abnormality of eye movement | An abnormality in voluntary or involuntary eye movements or their control. |
| Sialidosis | |
| Adenylosuccinate lyase deficiency | Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. |
| Exostoses | An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. |
| Seizures-scoliosis-macrocephaly syndrome | |
| Susceptibility to mononeuropathy of the median nerve | |
| Mast syndrome | A hereditary spastic paraplegia associated with dementia. |
| Multiple congenital exostosis | |
| Chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| CAMPOMELIC DYSPLA | |
| Camptomelic dysplasia | |
| Chromosome 2q32-q33 deletion syndrome | |
| Cleft palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| Truncal obesity | Obesity located preferentially in the trunk of the body as opposed to the extremities. |
| Postaxial foot polydactyly | Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. |
| PSEUDOXANTHOMA ELASTI | |
| Spondylo-ocular syndrome | |
| Autosomal recessive inherited pseudoxanthoma elasticum | |
| Familial Mediterranean fever | A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. |
| Acute febrile neutrophilic dermatosis | |
| Recurrent fever | |
| APOLIPOPROTEIN C-II | |
| Familial apolipoprotein C-II deficiency | |
| Myoclonic epilepsy of Lafora | |
| Lafora disease | OMIM mapping confirmed by DO. [SN]. |
| Glutaric acidemia IIa | |
| Multiple acyl-CoA dehydrogenase deficiency | |
| Hyaline fibromatosis syndrome | |
| Spongy degeneration of central nervous system | |
| Canavan disease | OMIM mapping confirmed by DO. [SN]. |
| Mild Canavan disease | |
| Neuronopathy | |
| Ezetimibe response | |
| Marinesco-Sjogren syndrome | |
| Renal-hepatic-pancreatic dysplasia | |
| NPHP3-related Meckel-like syndrome | |
| Autosomal recessive spinocerebellar ataxia | |
| Geroderma osteodysplastica | Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. |
| Pancreatic insufficiency-anemia-hyperostosis syndrome | |
| Multiple sulfatase deficiency | |
| Cerebral cavernous malformation | |
| P phenotype | |
| ALG2-congenital disorder of glycosylation | |
| Hyperaldosteronism | An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. |
| Idiopathic generalized epilepsy | An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. |
| Leukocyte adhesion deficiency | OMIM mapping confirmed by DO. [SN]. |
| Kindler syndrome | Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. |
| Vitelliform macular dystrophy | A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. |
| Autosomal dominant vitreoretinochoroidopathy | |
| Autosomal recessive bestrophinopathy | |
| Stargardt disease | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. |
| BEST1-related dominant retinopathy | |
| Mucolipidosis III alpha/beta | |
| Pseudo-Hurler polydystrophy | |
| Mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| Adult polyglucosan body neuropathy | |
| Adult polyglucosan body disease | |
| Glycogen storage disease due to glycogen branching enzyme deficiency | |
| GNPTG-mucolipidosis | |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
| Fraser syndrome | |
| Cohen syndrome | Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
| Deficiency of acetyl-CoA acetyltransferase | |
| Jalili syndrome | |
| Congenital ichthyosis of skin | |
| Factor 5 and Factor V | |
| Factor V and factor V | |
| Hypercholesterolemia | An increased concentration of cholesterol in the blood. |
| Familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Homozygous familial hypercholesterolemia | |
| Low density lipoprotein cholesterol level quantitative trait locus | |
| Hypocholesterolemia | An decreased concentration of cholesterol in the blood. |
| Hypobetalipoproteinemia | |
| Congenital bile acid synthesis defect | |
| Glanzmann thrombasthenia | |
| BAK PLATELET-SPECIFIC ANTI | |
| Platelet- disorder | |
| Hypercholanemia | |
| Chylomicron retention disease | Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
| Homocysteine level elevated | |
| Cystathioninuria | An elevated urinary concentration of cystathionine. |
| Hereditary xanthinuria | |
| Xanthinuria | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. |
| Niemann-Pick disease | OMIM mapping confirmed by DO. [SN]. |
| Sphingomyelin/cholesterol lipidosis | |
| Acid sphingomyelinase deficiency | |
| Palmoplantar keratoderma | |
| Epidermolytic palmoplantar keratoderma | |
| Bardet-Biedl syndrome 1/ | |
| Ataxia-telangiectasia syndrome | |
| T-cell prolymphocytic leukemia | |
| Breast neoplasm | |
| Breast and/or ovarian cancer | |
| Malignant tumor of breast | |
| Ataxia - telangiectasia variant | |
| Familial colorectal cancer | |
| ATM-related cancer predisposition | |
| NICE approved PARP inhibitor treatment | |
| B-cell non-Hodgkin lymphoma | |
| Ataxia-telangiectasia | |
| Malignant tumor of urinary bladder | |
| Malignant tumor of pancreas | |
| Carcinoma of pancreas | |
| Mantle cell lymphoma | A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. |
| ARYLSULFATASE A PSEUDODEFICIE | |
| METACHROMATIC LEUKODYSTRO | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Methylmalonic aciduria | |
| Psoriasis | A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. |
| Congenital lactic acidosis | A form of lactic acidemia with congenital onset. |
| Long QT syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| Congenital long QT syndrome | |
| Cardiac arrhythmia | Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. |
| Long QT syndrome 1/ | |
| Jervell and Lange-Nielsen syndrome | |
| Short QT syndrome | An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. |
| Atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| Beckwith-Wiedemann syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| Weill-Marchesani 4 syndrome | |
| Bipolar affective disorder | |
| Tryptophan 5-monooxygenase deficiency | |
| Attention deficit-hyperactivity disorder | |
| Major depressive disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Dyggve-Melchior-Clausen syndrome | |
| Smith-McCort dysplasia | An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. |
| Shwachman-Diamond syndrome | Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. |
| Aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| Shwachman syndrome | |
| Splenomegaly | Abnormal increased size of the spleen. |
| Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| Agenesis of permanent teeth | A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. |
| Deeply set eye | |
| Muscular dystrophy-dystroglycanopathy | Xref MGI. |
| Walker-Warburg congenital muscular dystrophy | |
| Muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Abnormality of the musculature | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Ventriculomegaly | An increase in size of the ventricular system of the brain. |
| Abnormal brainstem morphology | |
| Hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| Parathyroid carcinoma | An endocrine gland cancer located_in the parathyroid glands located in the neck. |
| Parathyroid adenoma | |
| Acoustic neuroma | |
| Meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| Woolly hair | |
| Polyglandular autoimmune syndrome | |
| Autoimmune polyglandular syndrome | disease cluster belonging to disease group immune |
| Duane-radial ray syndrome | |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| Abnormality of the genitourinary system | The presence of any abnormality of the genitourinary system. |
| SRD5A2 POLYMORPH | |
| Micropenis | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Birt-Hogg-Dube syndrome | OMIM mapping confirmed by DO. [SN]. |
| Familial spontaneous pneumothorax | |
| 17p11.2 microduplication syndrome | |
| Ellis-van Creveld syndrome | OMIM mapping confirmed by DO. [SN]. |
| Curry-Hall syndrome | |
| Short-rib thoracic dysplasia | |
| Sensorineural hearing loss disorder | |
| Infertility disorder | |
| Cerebello-oculo-renal syndrome | |
| Predisposition to invasive fungal disease due to CARD9 deficiency | |
| Popliteal pterygium syndrome | NT MGI. |
| Autosomal dominant popliteal pterygium syndrome | |
| Van der Woude syndrome | A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. |
| Orofacial cleft | |
| IRF6-related condition | |
| Atrioventricular septal defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| Hermansky-Pudlak syndrome | An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
| ALG12-congenital disorder of glycosylation | |
| Troyer syndrome | A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. |
| Aniridia | OMIM mapping confirmed by DO. [SN]. |
| Irido-corneo-trabecular dysgenesis | |
| Foveal hypoplasia | |
| PAX6-related ocular dysgenesis | |
| Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Isolated optic nerve hypoplasia | |
| Drash syndrome | |
| Meacham syndrome | Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
| Wilms tumor | |
| 11p partial monosomy syndrome | |
| Frasier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Steroid-resistant nephrotic syndrome | |
| Nephrotic range proteinuria | |
| Familial idiopathic steroid-resistant nephrotic syndrome | |
| Dalmatian hypouricemia | |
| Familial renal hypouricemia | |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| Neural tube defects | |
| Thrombophilia due to thrombin defect | |
| MTHFR THERMOLABILE POLYMORPH | |
| Gastrointestinal stromal tumor | OMIM mapping confirmed by DO. [SN]. |
| Methotrexate response - Toxicity | |
| Hereditary acrodermatitis enteropathica | |
| Ceroid lipofuscinosis | |
| Early onset and severe retinal dystrophy | |
| Isovaleric acidemia | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| Isovaleryl-CoA dehydrogenase deficiency | |
| Basal cell nevus syndrome | |
| Gorlin syndrome | |
| Medulloblastoma | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) |
| Intestinal hypomagnesemia | |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | |
| Epileptic spasm | |
| Male infertility | |
| Kleefstra syndrome | Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| Galactosemia | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| Myeloperoxidase deficiency | |
| Alzheimer disease | |
| Autosomal recessive ataxia due to ubiquinone deficiency | |
| COG8-congenital disorder of glycosylation | |
| COG4-congenital disorder of glycosylation | |
| Fish-eye disease | Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. |
| Norum disease | OMIM mapping confirmed by DO. [SN]. |
| LCAT deficiency | disease cluster belonging to disease group other |
| UDPglucose-4-epimerase deficiency | |
| Dyslipidemia | |
| FH LEIDEN | |
| Cutaneous porphyria | OMIM mapping confirmed by DO. [SN]. |
| Albinism | An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). |
| Ocular albinism | |
| Temperature-sensitive oculocutaneous albinism | |
| Hypopigmentation of the skin | A reduction of skin color related to a decrease in melanin production and deposition. |
| Iris transillumination defect | |
| Hypopigmentation of hair | |
| Horizontal nystagmus | Nystagmus consisting of horizontal to-and-fro eye movements. |
| Myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| CHEDIAK-HIGASHI SYNDR | |
| Chediak-Higashi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Sulfite oxidase deficiency | Abnormally reduced sulfite oxidase activity. |
| Deficiency of butyryl-CoA dehydrogenase | |
| Immunodeficiency | |
| Wilson disease | OMIM mapping confirmed by DO. [SN]. |
| PHGDH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. |
| Neu-Laxova syndrome | Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
| HEXB POLYMORPH | |
| Sandhoff disease | OMIM mapping confirmed by DO. [SN]. |
| HEXOSAMINIDASE | |
| Tay-Sachs disease | OMIM mapping confirmed by DO. [SN]. |
| Gm2-gangliosidosis | |
| Hexa | hexosaminidase A (alpha polypeptide)|This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] |
| Beta-hexosaminidase a | |
| Hereditary ataxia | |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | |
| Treacher Collins syndrome | OMIM mapping confirmed by DO. [SN]. |
| Alstrom syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
| Friedreich ataxia | Xref MGI. |
| Muscle eye brain disease | |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| Glutamate formiminotransferase deficiency | |
| Acid alpha-glucosidase | |
| Glycogen storage disease due to acid maltase deficiency | |
| Deficiency of iodide peroxidase | |
| Deficiency of malonyl-CoA decarboxylase | |
| Thyroid dyshormonogenesis | |
| Genetic transient congenital hypothyroidism | |
| Chilblain lupus | |
| Atelosteogenesis | OMIM mapping confirmed by DO. [SN]. |
| Diastrophic dysplasia | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| Achondrogenesis | An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. |
| Sulfate transporter-related osteochondrodysplasia | |
| Multiple epiphyseal dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. |
| 3MC syndrome | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. |
| De la Chapelle dysplasia | |
| Osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| Autosomal dominant nonsyndromic hearing loss | |
| Autosomal recessive polycystic kidney disease | |
| Periportal fibrosis | The presence of fibrosis affecting the interlobular stroma of liver. |
| Autosomal dominant polycystic liver disease | |
| Vanishing white matter disease | |
| Sotos syndrome | An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. |
| Deficiency of beta-ureidopropionase | |
| Pseudo von Willebrand disease | |
| Bernard-Soulier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Macrothrombocytopenia | |
| Impaired ristocetin-induced platelet aggregation | |
| Nonarteritic anterior ischemic optic neuropathy | |
| Bernard Soulier syndrome | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect | |
| Vitiligo-associated multiple autoimmune disease susceptibility | |
| Respiratory papillomatosis | disease cluster belonging to disease group infection |
| Autoinflammation | |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | |
| Enterokinase deficiency | |
| Schimke immuno-osseous dysplasia | Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. |
| Systemic lupus erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| Retinal vasculopathy | |
| Charcot-Marie-Tooth disease recessive intermediate | |
| Sensory neuropathy | |
| Elevated circulating alkaline phosphatase concentration | |
| Polyneuropathy | |
| Waardenburg syndrome | |
| Limb-girdle muscular dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| Myopathy caused by variation in F | |
| FKRP-related muscular dystrophy-dystroglycanopathy | |
| Nizon-Isidor syndrome | |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | |
| Cholestanol storage disease | |
| Mandibuloacral dysplasia | |
| Lethal tight skin contracture syndrome | |
| Restrictive dermopathy | |
| Gaucher disease | |
| Dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | |
| Hypomimic face | A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. |
| Movement disorder | |
| Resting tremor | A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. |
| Parkinsonian disorder | |
| Thoracolumbar scoliosis | |
| Lewy body dementia | A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. |
| Gaucher disease perinatal lethal | |
| Akinesia | Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. |
| Rigidity | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |
| Desmosterolosis | Desmosterolosis is a very rare sterol biosynthesis disorder (see this term) characterized by multiple congenital anomalies, failure to thrive and intellectual disability, with elevated levels of desmosterol. |
| Familial cold autoinflammatory syndrome | |
| Cryopyrin associated periodic syndrome | |
| Familial amyloid nephropathy | |
| Chronic infantile neurological | |
| Keratitis fugax hereditaria | |
| Bartter disease | |
| Bartter syndrome | Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. |
| Sensorineural deafness | |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | |
| Familial hyperlipoproteinemia | |
| Infantile-onset ascending hereditary spastic paralysis | Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. |
| Ataxia | |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| Nephropathic cystinosis | |
| Ocular cystinosis | |
| Juvenile nephropathic cystinosis | |
| Cystinosis | |
| Odonto-onycho-dermal dysplasia | |
| Schopf-Schulz-Passarge syndrome | |
| Tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| Ectodermal dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Familial chronic mucocutaneous candidiasis | |
| Aspergillosis | An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. |
| Invasive pneumococcal disease | |
| Malaria | A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. |
| Mycobacterium tuberculosis | |
| Bacteremia | An infection that has as part bacteria located in the blood. |
| Pleuropulmonary blastoma | A pulmonary blastoma that derives_from the lung or pleural cavity. |
| DICER1-related tumor predisposition | |
| Nanophthalmos | |
| Isolated microphthalmia | |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | |
| Eichsfeld muscular dystrophy | |
| Congenital myopathy | |
| Cleft lip/palate | |
| SELENON-related myopathy | |
| Wolfram syndrome | A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Wolfram-like syndrome | |
| WFS1-Related Spectrum Disorders | |
| Nonsyndromic genetic hearing loss | |
| Congenital generalized lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Severe neurodegenerative syndrome | |
| Berardinelli-Seip congenital lipodystrophy | |
| Peripheral neuropathy | A neuropathy that is located_in nerves of the peripheral nervous system. |
| Abnormal central motor function | |
| Hypoprebetalipoproteinemia | |
| Pigmentary pallidal degeneration | |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| Biotin-responsive basal ganglia disease | OMIM mapping confirmed by DO. [SN]. |
| Thiamine metabolism dysfunction syndrome 2 | |
| BARDET-BIEDL SYNDROME 2/ | |
| Arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| RAB23-related Carpenter syndrome | |
| Carpenter syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Acroerythrokeratoderma | |
| Progressive external ophthalmoplegia | |
| Mitochondrial disease | |
| Infantile onset spinocerebellar ataxia | |
| Atrial septal defect | |
| Cranioectodermal dysplasia | |
| Kostmann syndrome | |
| NEUROBLAST | Any embryonic cell which develops into a nerve cell or neuron; an immature nerve cell. |
| Severe combined immunodeficiency due to DCLRE1C deficiency | Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. |
| Histiocytic medullary reticulosis | |
| Athabaskan severe combined immunodeficiency | |
| Chorea-acanthocytosis | |
| Blau syndrome | An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. |
| Regional enteritis | |
| Microcephalic osteodysplastic primordial dwarfism | |
| Megalencephalic leukoencephalopathy | |
| ALG1-congenital disorder of glycosylation | |
| Congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Finnish congenital nephrotic syndrome | |
| Myofibrillar myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| Neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| Esophageal atresia/tracheoesophageal fistula | |
| Ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| Inherited ovarian cancer | |
| Birk-Barel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Dimethylglycine dehydrogenase deficiency | Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. |
| Epidermodysplasia verruciformis | An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. |
| Hypotonia | |
| Ovarian dysgenesis | |
| Mowat-Wilson syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations. |
| Hirschsprung disease-intellectual disability syndrome | |
| Imerslund-Grasbeck syndrome | |
| Hereditary hypercarotenemia and vitamin A deficiency | |
| Autosomal recessive Dejerine-Sottas syndrome | |
| Dejerine-Sottas disease | |
| Sensorimotor neuropathy | |
| Adult-onset proximal spinal muscular atrophy | |
| Parkinsonian-pyramidal syndrome | |
| Pendred syndrome | Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. |
| Wolff-Parkinson-White pattern | |
| Ataxia - oculomotor apraxia | |
| Seizure | |
| BLEPHAROPHIMO | |
| Blepharophimosis | |
| Premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| Testosterone 17-beta-dehydrogenase deficiency | |
| Pseudohermaphroditism | |
| Pituitary adenoma predisposition | |
| Somatotroph adenoma | |
| Majeed syndrome | |
| Myoglobinuria | Presence of myoglobin in the urine. |
| Pituitary adenoma | |
| Childhood onset hearing loss | |
| USHER SYNDR | |
| Sitosterolemia | |
| Gallbladder disease | A gastrointestinal system disease that is located_in the gallbladder. |
| Early-onset coronary artery disease | |
| Brachyrachia | |
| Skeletal dysplasia | A general term describing features characterized by abnormal development of bones and connective tissues. |
| Metatropic dysplasia | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
| Spondylometaphyseal dysplasia | |
| Parastremmatic dwarfism | Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. |
| Spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| Scapuloperoneal spinal muscular atrophy | |
| TRPV4-Associated Disorders | |
| TRPV4-related bone disorder | |
| Hereditary motor neuron disease | |
| Sodium serum level quantitative trait locus | |
| Erythrokeratodermia variabilis et progressiva | |
| Frontonasal dysplasia | |
| Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. |
| Giant axonal neuropathy | |
| Hyperreflexia | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Babinski sign | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| Spastic paraparesis | |
| Achalasia-alacrima syndrome | |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| Childhood apraxia of speech | |
| Macular corneal dystrophy | A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. |
| Autosomal dominant optic atrophy classic form | |
| Abortive cerebellar ataxia | |
| Mitochondrial DNA depletion syndrome 14 | |
| OPA1-related optic atrophy | |
| Centronuclear myopathy | A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| Tuberous sclerosis | OMIM mapping confirmed by DO. [LS]. |
| Tuberous sclerosis syndrome | |
| Isolated focal cortical dysplasia | |
| Lung lymphangioleiomyomatosis | |
| Abnormal circulating carbohydrate concentration | |
| Hyper-IgM syndrome | |
| Lisch epithelial corneal dystrophy | |
| Autosomal recessive distal renal tubular acidosis | |
| Renal tubular acidosis | A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. |
| Pseudohypoaldosteronism | |
| Sick sinus syndrome | Xref MGI. |
| Brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Ventricular tachycardia | |
| Early-onset generalized limb-onset dystonia | |
| Dystonic disorder | |
| Spondylocostal dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. |
| Craniometaphyseal dysplasia | An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. |
| Chondrocalcinosis | An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. |
| Congenital secretory sodium diarrhea | |
| Polycystic lipomembranous osteodysplasia | |
| Achromatopsia | A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. |
| Severe early-childhood-onset retinal dystrophy | |
| FRONTOTEMPORAL LOBAR DEGENERAT | |
| FRONTOTEMPORAL DEMEN | |
| Mulibrey nanism syndrome | |
| Familial cylindromatosis | |
| Brooke-Spiegler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Familial multiple trichoepitheliomata | |
| Trichoepithelioma | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis | |
| Netherton syndrome | OMIM mapping confirmed by DO. [SN]. |
| Ichthyosis linearis circumflexa | |
| SPINK5 POLYMORPH | |
| Hypophosphatemic nephrolithiasis/osteoporosis | |
| Hypophosphatemia | |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| Dominant hypophosphatemia | |
| Immunodeficiency due to ficolin3 deficiency | |
| Hypoparathyroidism-retardation-dysmorphism syndrome | |
| Autosomal recessive Kenny-Caffey syndrome | |
| Endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| Inherited polyposis and early onset colorectal cancer - germline testing | |
| Endometrial cancer | A uterine cancer that is located_in tissues lining the uterus. |
| Colorectal adenomatous polyposis | |
| Small intestine carcinoid | |
| Pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| Ovarian carcinoma | Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. |
| Colon cancer | A colorectal cancer that is located_in the colon. |
| Diffuse midline glioma | |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | |
| Immunoglobulin A deficiency | |
| Common variable immunodeficiency | A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). |
| McKusick-Kaufman syndrome | |
| Syndromic inherited retinal disease | |
| Congenital malabsorptive diarrhea | |
| Agenesis of the corpus callosum | |
| RETINITIS PIGMENT | |
| Deficiency of isobutyryl-CoA dehydrogenase | |
| Chronic kidney disease | Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. |
| Idiopathic nephrotic syndrome | |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect | |
| RRM2B-related mitochondrial disease | |
| Autosomal dominant epilepsy | |
| Congenital isolated adrenocorticotropic hormone deficiency | |
| Werner syndrome | OMIM mapping confirmed by DO. [LS]. |
| Bloom syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive osteopetrosis | |
| Macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| Age-related macular degeneration | Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.|Degenerative changes in the macula lutea of the retina. |
| Exudative vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. |
| Cortical dysplasia-focal epilepsy syndrome | |
| ALG6-congenital disorder of glycosylation | |
| Odontochondrodysplasia | |
| Charlevoix-Saguenay spastic ataxia | |
| Alpha-methylacyl-CoA racemase deficiency | |
| Primary familial hypertrophic cardiomyopathy | |
| Enhanced S-cone syndrome | |
| Goldmann-Favre syndrome | Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| Hidrotic ectodermal dysplasia syndrome | |
| X-linked mixed hearing loss | |
| GM3 synthase deficiency | |
| AIPL1-related retinopathy | |
| Trichorhinophalangeal dysplasia | |
| Trichorhinophalangeal syndrome | |
| CHEK2-related cancer predisposition | |
| Li-Fraumeni syndrome | An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| Bone osteosarcoma | |
| Kartagener syndrome | A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. |
| Retinal macular dystrophy | |
| Ehlers-Danlos syndrome progeroid | |
| Larsen-like syndrome | |
| Lethal skeletal dysplasia | |
| Salla disease | |
| Sialic acid storage disease | |
| Dyskeratosis congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Revesz syndrome | Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
| Deficiency of galactokinase | |
| Hereditary cerebral amyloid angiopathy | |
| Nephrocalcinosis | |
| Hyperoxaluria | Increased excretion of oxalates in the urine. |
| Tics | |
| Cardioencephalomyopathy | |
| Severe global developmental delay | A severe delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Cenani-Lenz syndactyly syndrome | |
| Sclerosteosis | A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. |
| Cold-induced sweating syndrome | An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. |
| Pigmented paravenous retinochoroidal atrophy | |
| CRB1-related maculopathy | |
| Retinitis pigmentosa-deafness syndrome | |
| Early-onset retinal dystrophy | |
| Ichthyosis prematurity syndrome | |
| SLC22A4 POLYMORPH | |
| Diamond-Blackfan anemia | A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. |
| Central precocious puberty | Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). |
| Hyperekplexia | |
| Myoclonic dystonia | |
| Cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| Upshaw-Schulman syndrome | |
| Thrombotic thrombocytopenic purpura | |
| Bilateral frontoparietal polymicrogyria | |
| Progressive distal muscle weakness | Progressively reduced strength of the distal musculature. |
| Progressive proximal muscle weakness | Lack of strength of the proximal muscles that becomes progressively more severe. |
| Distal myopathy | |
| Ectodermal dysplasia 10a | |
| Mitochondrial DNA depletion syndrome 4b | |
| Progressive sclerosing poliodystrophy | |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | |
| Non-syndromic oligodontia | disease cluster belonging to disease group developmental |
| Hair morphology | Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals. |
| Hypohidrotic Ectodermal Dysplasia | A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
| Amyotrophic neuralgia | OMIM mapping confirmed by DO. [SN]. |
| Nijmegen breakage syndrome-like disorder | |
| Wolcott-Rallison dysplasia | |
| Oligodontia-cancer predisposition syndrome | |
| Xeroderma pigmentosum variant | |
| Familial hyperkalemic periodic paralysis | |
| Paramyotonia congenita/hyperkalemic periodic paralysis | |
| Hypokalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Paramyotonia congenita of Von Eulenburg | |
| Delayed gross motor development | A type of motor delay characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| SCN4A-related non-dystrophic myotonia | |
| Potassium-aggravated myotonia | Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms). |
| Focal-onset seizure | |
| Paramyotonia congenita/myotonia congenita | |
| Myotonia fluctuans | |
| Normokalemic periodic paralysis | |
| SCN4A-related myopathy | |
| Myotonia congenita | |
| SCN4A-related channelopathy | |
| Acetazolamide-responsive myotonia | |
| Myotonia permanens | |
| Primary hypomagnesemia | |
| Megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency | |
| Mitochondrial DNA depletion syndrome | |
| Griscelli syndrome | |
| Multisystem inflammatory syndrome in children | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| Neonatal intrahepatic cholestasis due to citrin deficiency | Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. |
| Citrin deficiency | Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term). |
| Late-onset citrullinemia | |
| CITRIN DEFICIE | |
| Congenital central hypoventilation | |
| Sialuria | A lysosomal storage disease characterized by increased sialic acid in the urine. |
| GNE myopathy | |
| Acral peeling skin syndrome | |
| Rothmund-Thomson syndrome | OMIM mapping confirmed by DO. [SN]. |
| Baller-Gerold syndrome | OMIM mapping confirmed by DO. [SN]. |
| Rapadilino syndrome | |
| B lymphoblastic leukemia lymphoma | |
| TEL-AML1 | |
| High grade surface osteosarcoma | |
| Familial dysautonomia | |
| Primary dysautonomia | |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Schizencephaly | The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. |
| Combined molybdoflavoprotein enzyme deficiency | |
| Tetralogy of Fallot | OMIM mapping confirmed by DO. [LS]. |
| Diaphragmatic hernia | |
| Double outlet right ventricle | OMIM mapping confirmed by DO. [SN]. |
| Auditory neuropathy | |
| GRACILE syndrome | GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). |
| Pili torti-deafness syndrome | |
| Bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| Mitochondrial complex IV deficiency | |
| Neurologic | |
| Cerebellar ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Developmental regression | Loss of developmental skills, as manifested by loss of developmental milestones. |
| Autosomal recessive Parkinson disease | |
| Infantile neuroaxonal dystrophy | Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. |
| Iron accumulation in brain | An abnormal build up of iron (Fe) in brain tissue. |
| Karak syndrome | |
| PLA2G6-associated neurodegeneration | |
| Lysinuric protein intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| LARGE1-Related Disorders | |
| Osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| High bone mass | |
| Increased bone mineral density | increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size |
| Autosomal dominant osteopetrosis | |
| Worth disease | |
| Familial exudative vitreoretinopathy | |
| Infertility associated | |
| Dystonia | |
| Primary erythromelalgia | |
| Acute episodes of neuropathic symptoms | Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). |
| Abnormality of pain sensation | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| Generalized epilepsy | disease cluster belonging to disease group other |
| SCN9A-related peripheral neuropathies associated | |
| Paroxysmal extreme pain disorder | |
| Channelopathy-associated congenital insensitivity to pain | |
| Hypoglycemia | |
| Febrile seizures | Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two. |
| Inherited Erythromelalgia | |
| Progressive pseudorheumatoid dysplasia | |
| Larsen syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| Spondylocarpotarsal synostosis syndrome | |
| Boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Renal carnitine transport defect | |
| Decreased circulating carnitine concentration | |
| Familial hyperthyroidism due to mutations in TSH receptor | |
| Hypothyroidism due to TSH receptor mutations | |
| Graves disease | A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy). |
| Familial gestational hyperthyroidism | |
| Lethal congenital contracture syndrome | |
| Lethal arthrogryposis-anterior horn cell disease syndrome | |
| Lethal congenital contractural syndrome Finnish | |
| Peroxisome biogenesis disorder 8A | |
| Erythrocytosis | |
| Maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| Monogenic diabetes | |
| Asphyxiating thoracic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Jeune thoracic dystrophy | |
| Pyridoxal phosphate-responsive seizures | Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. |
| Ectrodactyly | A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. |
| TP63-Related Spectrum Disorders | |
| Rapp-Hodgkin syndrome | An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. |
| Split hand-foot malformation | |
| ADULT syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. |
| Rhabdoid tumor predisposition syndrome | |
| Brachydactyly | A bone development disease characterized by short fingers and toes. |
| Acromesomelic dysplasia | An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. |
| Arterial calcification | Pathological deposition of calcium salts in one or more arteries. |
| Papule | A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. |
| Pseudoxanthoma elasticum | An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. |
| Cataract 12 multiple | |
| Snowflake vitreoretinal degeneration | |
| Progressive familial intrahepatic cholestasis | |
| Benign recurrent intrahepatic cholestasis | |
| MHC class II deficiency | OMIM mapping confirmed by DO. [SN]. |
| Laurence-Moon syndrome | OMIM mapping confirmed by DO. [SN]. |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | |
| Hereditary hearing loss and deafness | |
| Anaphylotoxin inactivator deficiency | |
| Slow-Channel Congenital Myasthenia Syndrome | |
| Synaptic congenital myasthenic syndromes | |
| Herpes simplex encephalitis | A severe virus infection of the central nervous system by the herpes simplex virus (HSV). |
| Susceptibility to HIV infection | |
| Neuromuscular disease caused by qualitative or quantitative defects of dysferlin | |
| Autosomal recessive brachyolmia | |
| Proteinuria | |
| Tarsal-carpal coalition syndrome | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. |
| Proximal symphalangism | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. |
| Stapes ankylosis | Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). |
| Ventricular septal defect | A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. |
| FAAH POLYMORPH | |
| Polysubstance abuse | |
| Infantile epilepsy syndrome | |
| Immunodeficiency-centromeric instability-facial anomalies syndrome | |
| Centromeric instability of chromosomes | |
| Facioscapulohumeral muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Congenital heart defects | |
| Right atrial isomerism | Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. |
| GDF1-RELATED DISORD | |
| Arrhythmogenic ventricular cardiomyopathy | |
| Sudden unexplained death | |
| Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. |
| Premature chromatid separation trait | |
| Peroxisome biogenesis disorder 6A | |
| Zellweger spectrum disorders | |
| Smith-Lemli-Opitz syndrome | OMIM mapping confirmed by DO. [LS]. |
| Proximal spinal muscular atrophy | |
| Noonan syndrome-like disorder | |
| RASopathy | |
| Noonan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Pectus excavatum | A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. |
| Familial ovarian cancer | |
| Leukodystrophy and acquired microcephaly | |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| Monilethrix- | |
| Rhizomelic chondrodysplasia punctata | A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. |
| Lethal congenital glycogen storage disease of heart | |
| Familial Hypertrophic Cardiomyopathy | |
| Heterotaxy | |
| Carney-Stratakis syndrome | |
| Paragangliomas | |
| Mitochondrial complex II deficiency | |
| Mitochondrial complex 2 deficiency | |
| Carcinoid tumor of intestine | |
| Glucose-6-phosphate transport defect | |
| Phosphate transport defect | |
| Familial prostate cancer | |
| Acute lymphoid leukemia | |
| TUBB3-related tubulinopathy | |
| Complex cortical dysplasia | |
| TUBB3-Releated Disorders | |
| Nail-patella syndrome | OMIM mapping confirmed by DO. [SN]. |
| Nail-patella-like renal disease | |
| Down syndrome | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
| Methylcobalamin deficiency | |
| Methotrexate response | |
| Autosomal recessive juvenile Parkinson disease | |
| Leprosy | A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. |
| Ovarian neoplasm | |
| Lung carcinoma | A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. |
| Lung cancer | A respiratory system cancer that is located_in the lung. |
| Warburg micro syndrome | An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. |
| Lissencephaly due to TUBA1A mutation | |
| Tubulinopathy | |
| Tubulinopathy-associated dysgyria | |
| PARAOXONASE 2 POLYMORPH | |
| Familial encephalopathy | |
| Primary open angle glaucoma | OMIM mapping confirmed by DO. [SN]. |
| Vesicoureteral reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| Cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | |
| Hereditary pancreatitis | |
| Ivacaftor response - Efficacy | |
| Obstructive azoospermia | |
| Sweat chloride elevation | |
| Carney triad | |
| Distichiasis-lymphedema syndrome | |
| Familial intrahepatic cholestasis | |
| Autosomal dominant centronuclear myopathy | |
| Severe X-linked myotubular myopathy | |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | |
| Autosomal dominant Charcot-Marie-Tooth disease | |
| Hepatitis B virus | |
| Mortality risk in patients | |
| Papillon-Lefèvre syndrome | |
| Periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| Haim-Munk syndrome | |
| Arginine:glycine amidinotransferase deficiency | |
| Robinow syndrome | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. |
| Autosomal recessive Robinow syndrome | |
| Leanness | |
| AGRP-related condition | |
| Inherited obesity | |
| Alopecia universalis congenita | |
| Atrichia | |
| Sarcotubular myopathy | |
| Pitt-Hopkins syndrome | Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. |
| Severe intellectual deficiency | |
| Action myoclonus-renal failure syndrome | |
| Seizures | Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. |
| Complex neurodevelopmental disorder | |
| Neonatal/infantile epilepsy syndrome | |
| Townes-Brocks syndrome | An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. |
| Townes syndrome | |
| Townes-Brocks-branchiootorenal-like syndrome | |
| Peutz-Jeghers syndrome | OMIM mapping confirmed by DO. [SN]. |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Germ cell tumor of testis | |
| EAST syndrome | |
| Lipid proteinosis | |
| HSPB1-related axonal neuropathies | |
| CARASIL syndrome | |
| HTRA1-related cerebral small vessel disease | |
| Cognitive impairment | Abnormality in the process of thought including the ability to process information. |
| Personality changes | An abnormal shift in patterns of thinking, acting, or feeling. |
| Small vessel cerebrovascular disease | |
| Cerebral arteriopathy | disease cluster belonging to disease group cardiovascular |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | |
| Congenital pontocerebellar hypoplasia | |
| Peroxisome biogenesis disorder 1A | |
| Heimler syndrome | |
| Peroxisomal disorder | |
| Peroxisome biogenesis disorder due to PEX1 defect | |
| Congenital absence of salivary gland | |
| Kabuki syndrome | Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. |
| Osteoarthritis susceptibility | |
| Fibrous dysplasia of jaw | |
| Microspherophakia | |
| Microspherophakia and/or megalocornea | |
| DiGeorge syndrome | A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. |
| UCP3 POLYMORPHISM G/ | |
| UCP3 POLYMORPH | |
| Morbid obesity | |
| REFSUM DISE | |
| Phytanic acid storage disease | |
| Alagille syndrome due to a JAG1 point mutation | |
| Arteriohepatic dysplasia | |
| Short stature due to growth hormone secretagogue receptor deficiency | |
| Bifunctional peroxisomal enzyme deficiency | |
| Perrault syndrome | |
| Congenital hypothyroidism | A hypothyroidism that is present at birth. |
| DNA ligase IV deficiency | A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. |
| Multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| Prenatal LIG4 syndrome | |
| SEPTOOPTIC DYSPLA | |
| GROWTH HORMONE DEFICIE | |
| Septo-optic dysplasia sequence | |
| PITUITARY HORMONE DEFICIE | |
| PMM2-congenital disorder of glycosylation | |
| Congenital glaucoma | |
| Anterior segment dysgenesis | Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. |
| Primary congenital glaucoma | Xref MGI. |
| Glaucoma of childhood | |
| BREAST CAN | |
| Autoimmune lymphoproliferative syndrome | A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. |
| Peroxisome biogenesis disorder 3A | |
| Peroxisomal biogenesis disorder 3b | |
| Tumoral calcinosis | |
| Glomuvenous malformation | |
| PTEN hamartoma tumor syndrome | mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. |
| Macrocephaly-autism syndrome | |
| Glioma susceptibility | |
| Lhermitte-Duclos disease | |
| Familial meningioma | OMIM mapping confirmed by DO. [SN]. |
| Proteus-like syndrome | |
| Vater association | |
| Groenouw corneal dystrophy | |
| Lattice corneal dystrophy | |
| Thiel-Behnke corneal dystrophy | Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. |
| Epithelial-stromal TGFBI dystrophy | |
| Avellino corneal dystrophy | |
| Reis-Bucklers' corneal dystrophy | |
| MACULAR DEGENERAT | |
| ABCA4-related retinopathy | |
| Syndromic retinitis pigmentosa | |
| Mandibulofacial dysostosis | |
| Cranioosteoarthropathy | |
| Hypertrophic osteoarthropathy | |
| Isolated congenital digital clubbing | |
| Branchiootorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Melnick-Fraser syndrome | |
| Otofaciocervical syndrome | |
| Branchiootic syndrome | A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. |
| Branchiooculofacial syndrome | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. |
| RECLASSIFIED - MYOC POLYMORPH | |
| Angelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Saethre-Chotzen syndrome | An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. |
| TWIST1-related craniosynostosis | |
| Robinow-Sorauf syndrome | |
| Holt-Oram syndrome | Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
| Aortic valve disease | Updating out dated UMLS CUI. |
| Heart | 1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood. 2: A structure in an invertebrate animal functionally analogous to the vertebrate heart. |
| Fundus albipunctatus | A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. |
| Pigmentary retinal dystrophy | |
| Retinitis punctata albescens | |
| Interstitial lung disease due to ABCA3 deficiency | |
| Deficiency of 3-hydroxyacyl-CoA dehydrogenase | |
| Hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| SMARCB1-related schwannomatosis | |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | |
| Char syndrome | |
| Doyne honeycomb retinal dystrophy | |
| Lissencephaly due to LIS1 mutation | |
| Subcortical band heterotopia | |
| Axenfeld-Rieger syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| Ring dermoid of cornea | |
| Combined pituitary hormone deficiencies | |
| Peroxisome biogenesis disorder 4A | |
| CAROTID INTIMAL MEDIAL THICKNESS | |
| PPARG-related familial partial lipodystrophy | |
| Lipodystrophy | |
| INSULIN RESISTA | |
| PPARG POLYMORPH | |
| Mitochondrial DNA depletion syndrome 3 | |
| Portal hypertension | |
| Succinyl-CoA acetoacetate transferase deficiency | |
| MUSCULAR DYSTRO | |
| Pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| Autosomal dominant polycystic kidney disease | |
| Basal cell carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| Juvenile polyposis syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. |
| Polyposis syndrome | |
| Telangiectasia | |
| Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | |
| Pulmonary arterial hypertension | |
| Epidermolysis bullosa simplex | |
| Simplex epidermolysis bullosa_Ogna | |
| Cardiofaciocutaneous syndrome | A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. |
| Cardio-facio-cutaneous syndrome | |
| Rippling muscle disease | A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. |
| Caveolinopathy | |
| SUDDEN INFANT DEATH SYNDR | |
| Deficiency of guanidinoacetate methyltransferase | |
| Cerebral creatine deficiency syndrome | |
| Familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
| Autosomal dominant hypocalcemia | |
| Primary hyperparathyroidism | Xref MGI. |
| Neonatal severe primary hyperparathyroidism | |
| Nephrolithiasis/nephrocalcinosis | |
| Serum calcium level | |
| Familial hypoparathyroidism | |
| Familial acute necrotizing encephalopathy | |
| Multiple synostoses syndrome | |
| Grebe syndrome | |
| Unverricht-Lundborg syndrome | OMIM mapping confirmed by DO. [LS]. |
| Chorea | Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| Dyskinesia | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| Cerebral dysmyelination | Defective structure and function of myelin sheaths of the white matter of the brain. |
| Self-limited epilepsy | |
| Perry syndrome | Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. |
| Tolbutamide response | |
| Phenytoin response | |
| Glipizide response | |
| Lesinurad response | |
| Flurbiprofen response | |
| Piroxicam response | |
| Dubin-Johnson syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. |
| Pyknodysostosis | |
| DEJERINE-SOTTAS SYNDR | |
| Roussy-Levy syndrome | |
| Hereditary liability to pressure palsies | |
| Congenital primary aphakia | A developmental defect resulting in congenital absence of the crystalline lens. |
| Inclusion body myopathy | |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| Familial hemiplegic migraine | A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. |
| Sporadic hemiplegic migraine | |
| CACNA1A-related complex neurodevelopmental disorder | |
| LEPTIN RECEPTOR POLYMORPH | |
| Obesity due to leptin receptor gene deficiency | |
| Monogenic Non-Syndromic Obesity | |
| Inherited glutathione synthetase deficiency | |
| Glutathione synthetase deficiency | |
| Prostate cancer/brain cancer susceptibility | |
| Generalized juvenile polyposis/juvenile polyposis coli | |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | |
| Hypophosphatemic rickets | |
| Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | |
| Familial hypokalemia-hypomagnesemia | |
| Left ventricular noncompaction | |
| Persistent mullerian duct syndrome | A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. |
| Laron- somatotropin defect | |
| Short stature due to partial GHR deficiency | |
| Growth hormone insensitivity syndrome | |
| Permanent neonatal diabetes mellitus | Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. |
| Neonatal insulin-dependent diabetes mellitus | |
| Neonatal diabetes mellitus | |
| Hyperinsulinemia | |
| Transitory neonatal diabetes mellitus | |
| Maturity onset diabetes mellitus in young | |
| Transient Neonatal Diabetes | |
| Hyperinsulinism | |
| Familial hyperinsulinism | |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | |
| Variegate porphyria | |
| Cataract 1 multiple | |
| LCHAD deficiency | |
| Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
| Metabolic disease | |
| FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS | |
| T-cell immunodeficiency | |
| T-cell lymphopenia | |
| Ataxia-telangiectasia-like disorder | |
| Junctional epidermolysis bullosa gravis of Herlitz | |
| Epidermolysis bullosa | |
| Laryngo-onycho-cutaneous syndrome | |
| Pulmonary venoocclusive disease | OMIM mapping confirmed by DO. [SN]. |
| Primary pulmonary hypertension | A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. |
| Idiopathic and/or familial pulmonary arterial hypertension | |
| Liddle syndrome | OMIM mapping confirmed by DO. [SN]. |
| Familial hyperaldosteronism | |
| Andersen Tawil syndrome | |
| Pancreatic agenesis | |
| Microphthalmia | |
| Solitary median maxillary central incisor syndrome | |
| Neuronal Ceroid-Lipofuscinosis | |
| Arthyrgryposis | |
| Colorectal / endometrial cancer | |
| Coronary artery disease/myocardial infarction | |
| Carnitine palmitoyl transferase II deficiency | |
| Carnitine palmitoyltransferase II deficiency | |
| Benign hereditary chorea | |
| Brain-lung-thyroid syndrome | |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | |
| Hypothyroidism | A deficiency of thyroid hormone. |
| NKX2-5-related disorder | |
| Carnitine palmitoyl transferase 1A deficiency | Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. |
| Tricho-dento-osseous syndrome | |
| Hypomaturation-hypoplastic amelogenesis imperfecta | |
| Hereditary hyperinsulinism | |
| Leucine-induced hypoglycemia | |
| Autosomal recessive distal spinal muscular atrophy | |
| Familial isolated deficiency of vitamin | |
| Ataxia and retinitis pigmentosa | |
| Peroxisome biogenesis disorder 2A | |
| Kugelberg-Welander disease | |
| Werdnig-Hoffmann disease | OMIM mapping confirmed by DO. [SN]. |
| Spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| Pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| Carpal tunnel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| Fanconi renotubular syndrome | |
| Stroke disorder | |
| Lateral meningocele syndrome | |
| Myofibromatosis | |
| Recurrent subcortical infarcts | |
| Inherited MMR deficiency | |
| Pituitary carcinoma | |
| PMS2-related cancer disorders | |
| Conduction system disorder | |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | |
| Multiple cutaneous and mucosal venous malformations | An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. |
| Segmental undergrowth associated | |
| Cleidocranial dysostosis | |
| Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | |
| Ichthyosis bullosa of Siemens | |
| Exfoliative ichthyosis | |
| BRCA2-related cancer predisposition | |
| Uterine corpus cancer | A uterine cancer that is located_in the uterine corpus. |
| Breast ductal adenocarcinoma | |
| Cancer or benign tumor | |
| GUCY2D-related recessive retinopathy | |
| Night blindness | |
| Choroidal dystrophy | |
| Progressive cone dystrophy | |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | |
| Long QT syndrome 3/ | |
| Sinoatrial node disorder | |
| Ventricular fibrillation | Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. |
| Progressive familial heart block | |
| Atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| Hemiplegia | |
| ATRIAL STANDSTILL | |
| Familial melanoma | |
| Lip and oral cavity carcinoma | |
| Melanoma-pancreatic cancer syndrome | |
| Melanoma and neural system tumor syndrome | |
| Rubinstein-Taybi syndrome due to CREBBP mutations | |
| Menke-Hennekam syndrome | |
| Sarcoglycanopathy | |
| Metaphyseal anadysplasia | |
| Metaphyseal chondrodysplasia | An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. |
| Donnai-Barrow syndrome | Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms). |
| Monochromacy | Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. |
| CNGA3-related retinopathy | |
| Photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| Color vision defect | |
| Tangier disease | OMIM mapping confirmed by DO. [LS]. |
| Hypoalphalipoproteinemia | An decreased concentration of high-density lipoprotein cholesterol in the blood. |
| Thrombocythemia | |
| Chitotriosidase deficiency | |
| Thyroxine-binding globulin | |
| Thyroxine-binding globulin quantitative trait locus | |
| Androgen resistance syndrome | |
| Kennedy disease | |
| Hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| Partial androgen insensitivity syndrome | |
| Disorder of sexual differentiation | |
| SHOX-related short stature | |
| Leri-Weill dyschondrosteosis | |
| Langer mesomelic dysplasia syndrome | |
| HTR2C POLYMORPH | |
| Juvenile retinoschisis | |
| Retinoschisis | |
| RPGR-related retinopathy | |
| X-linked cone-rod dystrophy | |
| Glycogen storage disease IXd | |
| Phosphoribosylpyrophosphate synthetase superactivity | Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. |
| Arts syndrome | An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. |
| Charcot-Marie-Tooth disease X-linked recessive | |
| Charcot-Marie-Tooth Neuropathy | disease cluster belonging to disease group other |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | |
| Danon disease | OMIM mapping confirmed by DO. [SN]. |
| X-linked hydrocephalus syndrome | |
| Hydrocephalus due to aqueductal stenosis | |
| L1 syndrome | |
| MASA syndrome | An X-linked disease characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. |
| Hydrops fetalis | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| L1CAM-related disorders | |
| X-linked complicated corpus callosum dysgenesis | |
| X-linked severe combined immunodeficiency | |
| Combined immunodeficiency | |
| Lesch-Nyhan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | |
| HPRT FUJ | |
| Hereditary factor VIII deficiency disease | |
| Hereditary factor IX deficiency disease | |
| FACTOR VIII | |
| Mild hemophilia | |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Familial aortopathy | |
| G6PD AS | |
| G6PD deficiency | |
| G6PD CHAT | |
| G6PD MAHI | |
| G6PD SASS | |
| G6PD MEDITERRAN | |
| G6PD CAGLI | |
| G6PD deficient hemolytic anemia | |
| Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| G6PD PORT | |
| G6PD NASHVI | |
| G6PD ANAH | |
| G6PD SANTIAGO DE C | |
| G6PD SEATTLE-L | |
| G6PD MOD | |
| G6PD IOWA C | |
| G6PD I | |
| G6PD SPRINGFI | |
| G6PD WALTER R | |
| G6PD BEVERLY HI | |
| G6PD TO | |
| G6PD RIVERS | |
| G6PD ANDA | |
| G6PD AGRIGE | |
| G6PD G | |
| G6PD TAIWAN-HA | |
| G6PD CAN | |
| G6PD PUERTO LI | |
| G6PD MAL | |
| G6PD GASTO | |
| G6PD MINNES | |
| G6PD MAR | |
| G6PD IERAPE | |
| G6PD VIANGC | |
| G6PD JA | |
| G6PD LOMA LI | |
| G6PD COIM | |
| G6PD TAIWAN-HAKKA | |
| G6PD GUADALAJ | |
| G6PD KERALA-KAL | |
| G6PD KER | |
| G6PD KAL | |
| Congenital nonspherocytic hemolytic anemia | |
| G6PD AU | |
| G6PD GA | |
| G6PD QUING Y | |
| G6PD ORI | |
| G6PD NANK | |
| G6PD NEAPO | |
| G6PD AVE | |
| G6PD NAM | |
| G6PD NILG | |
| G6PD COSE | |
| Beta-thalassemia-X-linked thrombocytopenia syndrome | |
| GATA binding protein 1 related thrombocytopenia | |
| X-linked dyserythropoetic anemia | |
| Charcot-Marie-Tooth disease X-linked dominant | |
| X-linked Alport syndrome | |
| Alport syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| Hematuria | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| X-linked sideroblastic anemia | OMIM mapping confirmed by DO. [LS]. |
| X-linked erythropoietic protoporphyria | |
| Cone monochromatism | |
| Protan defect | |
| Glycogen storage disease IXa | |
| Warfarin sensitivity | |
| Deep venous thrombosis | Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. |
| Hemophilia b | An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| FACTOR | |
| FACTOR IX POLYMORPH | |
| Hemophilia B leyden | |
| Atrophia bulborum hereditaria | |
| Focal dermal hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Osteopathia striata | A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. |
| Syndromic X-linked intellectual disability Raymond | |
| Fabry disease | OMIM mapping confirmed by DO. [SN]. |
| Pettigrew syndrome | |
| Polyagglutinable erythrocyte syndrome | |
| Hemolytic uremic syndrome | |
| Syndromic X-linked intellectual disability Hedera | |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| Aarskog syndrome | |
| Diabetes insipidus | |
| Nephrogenic syndrome of inappropriate antidiuresis | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. |
| Nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| Lowe syndrome | |
| Dent disease | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
| Pyruvate dehydrogenase E1-alpha deficiency | |
| Pyruvate dehydrogenase complex deficiency | |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| X-linked lymphoproliferative syndrome | |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | |
| Congenital adrenal hypoplasia | |
| Renpenning syndrome | An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. |
| Hyperactivity | |
| Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| Ornithine carbamoyltransferase deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| ORNITHINE TRANSCARBAMYLASE POLYMORPH | |
| Nance-Horan syndrome | |
| Hypohidrotic X-linked ectodermal dysplasia | |
| Borjeson-Forssman-Lehmann syndrome | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| Pelizaeus-Merzbacher disease | OMIM mapping confirmed by DO. [SN]. |
| Wiskott-Aldrich syndrome | OMIM mapping confirmed by DO. [SN]. |
| X-linked severe congenital neutropenia | |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| X-linked Emery-Dreifuss muscular dystrophy | |
| X-linked lissencephaly | |
| Corpus callosum agenesis-abnormal genitalia syndrome | |
| Partington syndrome | |
| West syndrome | |
| Duchenne muscular dystrophy | A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. |
| Dystrophin deficiency | |
| Becker muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| X-linked DMD-related dystrophinopathy | |
| Neuromuscular disease caused by qualitative or quantitative defects of dystrophin | |
| Adrenoleukodystrophy | A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. |
| X-linked spondyloepimetaphyseal dysplasia | |
| Primary adrenocortical insufficiency | |
| X-linked intellectual disability Cabezas | |
| Abnormal facial shape | An abnormal morphology (form) of the face or its components. |
| X-linked agammaglobulinemia | |
| Autosomal recessive agammaglobulinemia | |
| Inherited Immunodeficiency diseases | |
| IFAP syndrome | |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
| VACTERL association | A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. |
| HSD10 mitochondrial disease | |
| Christianson syndrome | Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. |
| Chondrodysplasia punctata 2 X-linked dominant | |
| MEND syndrome | |
| Atypical Rett syndrome | |
| CDKL5 disorder | |
| Angelman syndrome-like | |
| Spondyloepiphyseal dysplasia tarda | |
| FG syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Blepharophimosis - intellectual disability syndrome | |
| X-linked intellectual disability | |
| X-linked chondrodysplasia punctata | |
| Chondrodysplasia punctata | |
| Syndromic X-linked intellectual disability Najm | |
| X-linked myopathy | |
| Subcortical laminar heterotopia | |
| Lissencephaly due to doublecortin gene mutation | |
| Ectopic tissue | |
| Abnormal cerebral morphology | |
| Syndromic X-linked intellectual disability Snyder | |
| Allan-Herndon-Dudley syndrome | An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. |
| Coffin-Lowry syndrome | OMIM mapping confirmed by DO. [SN]. |
| Congenital muscular hypertrophy-cerebral syndrome | |
| Simpson-Golabi-Behmel syndrome | An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. |
| Creatine transporter deficiency | |
| Craniofrontonasal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Alpha thalassemia-X-linked intellectual disability syndrome | |
| Atypical teratoid rhabdoid tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| Astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| Intellectual disability-hypotonic facies syndrome | |
| Acquired hemoglobin H disease | |
| Renier-Gabreels-Jasper syndrome | |
| Oto-palato-digital syndrome | |
| Conductive hearing impairment | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| Frontometaphyseal dysplasia | Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. |
| Melnick-Needles syndrome | |
| Heterotopia | |
| Terminal osseous dysplasia-pigmentary defects syndrome | |
| Cardiac valvular dysplasia | |
| Menkes kinky-hair syndrome | |
| X-linked distal spinal muscular atrophy | |
| X-linked recessive nephrolithiasis | |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | |
| Severe neonatal-onset encephalopathy | |
| Syndromic X-linked intellectual disability Lubs | |
| Atypical behavior | |
| Fumarylacetoacetase pseudodeficiency | |
| Trypsinogen deficiency | |
| Myoepithelial tumor | |
| Hereditary factor XI deficiency disease | |
| Plasma factor XI deficiency | |
| Factor XI deficiency | OMIM mapping confirmed by DO. [SN]. |
| Hurler syndrome | |
| Interstitial pneumonitis | |
| Hyperimmunoglobulin | |
| Mevalonic aciduria | OMIM mapping confirmed by DO. [SN]. |
| Porokeratosis | Xref MGI. |
| Deficiency of hydroxymethylglutaryl-CoA lyase | |
| Infantile nephronophthisis | |
| Pyruvate dehydrogenase E3 deficiency | Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. |
| Glycine encephalopathy | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| Glycogen storage disease due to glucose-6-phosphatase deficiency | |
| Propionic acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| Glutaric acidemia IIc | |
| Prekallikrein deficiency | |
| Inherited prekallikrein deficiency | |
| Factor X deficiency | |
| Factor VII deficiency | |
| Congenital factor VII deficiency | |
| Myocardial infarction | Xref MGI. |
| Apparent mineralocorticoid excess | Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. |
| Complement component 7 deficiency | NT MGI. |
| Factor I deficiency | |
| Complement component 2 deficiency | NT MGI. |
| Carnitine acylcarnitine translocase deficiency | |
| BBS1-related ciliopathy | |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| Adenoma | A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. |
| 21-HYDROXYLASE POLYMORPH | |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | |
| Neurohypophyseal diabetes insipidus | OMIM mapping confirmed by DO. [SN]. |
| Distal renal tubular acidosis | A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. |
| Hereditary diffuse gastric adenocarcinoma | |
| CDH1-related diffuse gastric and lobular breast cancer syndrome | |
| Breast lobular carcinoma | A breast carcinoma that derives_from breast lobules (milk glands). |
| Gastric adenocarcinoma | A stomach carcinoma that derives_from epithelial cells of glandular origin. |
| Prostate cancer susceptibility | |
| Familial juvenile hyperuricemic nephropathy | A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. |
| Crigler-Najjar syndrome | A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). |
| Gilbert syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. |
| Lucey-Driscoll syndrome | |
| BILIRU | |
| Hyperbilirubinemia | |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | |
| Familial medullary thyroid carcinoma | OMIM mapping confirmed by DO. [SN]. |
| Hereditary insensitivity to pain | |
| Capillary infantile hemangioma | |
| Autosomal recessive DOPA responsive dystonia | |
| TNF receptor-associated periodic fever syndrome | |
| Multiple sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| Choroid plexus carcinoma | A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. |
| Gallbladder cancer | A biliary tract cancer that is located_in the gallbladder. |
| Congenital fibrosarcoma | |
| Familial pancreatic carcinoma | |
| Malignant lymphoma | |
| Adrenocortical carcinoma | An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| TP53 POLYMORPH | |
| Acute myeloid leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| Cervical cancer | A female reproductive organ cancer that is located_in the cervix. |
| Squamous cell carcinoma of the head and neck | |
| Adrenal cortex carcinoma | |
| Squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| Li-fraumeni-like syndrome | |
| Sarcoma | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. |
| Lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| Ductal carcinoma in situ | |
| Pleomorphic xanthoastrocytoma | |
| Diffuse pediatric--grade glioma | |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| Thyroid gland undifferentiated | |
| Lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| Nasopharyngeal carcinoma | |
| Breast adenocarcinoma | A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. |
| Malignant tumor of esophagus | |
| ADRENOCORTICAL CARCIN | |
| Lymphangiomyomatosis | |
| Familial isolated dilated cardiomyopathy | |
| Familial restrictive cardiomyopathy | |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| Restrictive cardiomyopathy | Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. |
| Distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| Ulnar deviation of the wrist | |
| Congenital finger flexion contractures | Multiple bent (flexed) finger joints that cannot be straightened actively or passively. |
| Calcaneovalgus deformity | This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). |
| TPM3-related core myopathy | |
| Nemaline myopathy | A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. |
| Triosephosphate isomerase deficiency | A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. |
| Rienhoff syndrome | |
| Adams-Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| Congenital ichthyosiform erythroderma | OMIM mapping confirmed by DO. [SN]. |
| Loeys-Dietz syndrome | |
| Marfan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Multiple self-healing squamous epithelioma | |
| Diaphyseal dysplasia | |
| Thyroid hormone resistance | |
| Thyroid hormone resistance syndrome | OMIM mapping confirmed by DO. [LS]. |
| Selective pituitary resistance to thyroid hormone | |
| Squamous cell lung carcinoma | |
| Non-small cell lung carcinoma | A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. |
| Adenoid cystic carcinoma | Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. |
| OCULOECTODERMAL SYNDR | |
| Encephalocraniocutaneous lipomatosis | |
| Nevus sebaceous | A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. |
| Epidermal nevus | Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. |
| Linear nevus sebaceous syndrome | |
| Primary low grade serous adenocarcinoma of ovary | |
| Capillary malformation-arteriovenous malformation | |
| Cerebral arteriovenous malformation | |
| Vascular Tumors Including Pyogenic Granuloma | |
| Atypical endometrial hyperplasia | |
| Endometrial hyperplasia | |
| Congenital Pulmonary Airway Malformations | |
| KRAS-related overgrowth | |
| Chronic myelogenous leukemia | Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS. |
| Lung sarcomatoid carcinoma | |
| Vascular malformation | |
| Toriello-Lacassie-Droste syndrome | |
| Costello syndrome | OMIM mapping confirmed by DO. [SN]. |
| Thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| Spermatocytic seminoma | |
| Wooly hair nevus | |
| Transferrin variant | |
| Atransferrinemia | OMIM mapping confirmed by DO. [SN]. |
| TF* | |
| Iron deficiency anemia | |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Renal cysts and diabetes syndrome | Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. |
| Autosomal dominant medullary cystic kidney disease | |
| Tibial muscular dystrophy | |
| Carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Acrodysostosis | A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. |
| Pigmented nodular adrenocortical disease | |
| Familial atrial myxoma | |
| Sorsby fundus dystrophy | |
| Isolated thyroid-stimulating hormone deficiency | |
| Iodotyrosyl coupling defect | |
| Autoimmune thyroid disease | disease cluster belonging to disease group immune |
| Thrombomodulin-related bleeding disorder | |
| Thiopurine S-methyltransferase deficiency | |
| Pulmonary fibrosis and/or bone marrow failure | |
| Interstitial lung disease | |
| Idiopathic Pulmonary Fibrosis | Chronic and progressive fibrosis of the lung parenchyma of unknown cause. |
| Pulmonary fibrosis | |
| Combined immunodeficiency due to CD3gamma deficiency | |
| Leigh syndrome due to mitochondrial complex IV deficiency | |
| Muscle weakness | Reduced strength of muscles. |
| Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| Abnormal pyramidal sign | |
| Congenital diarrhea | |
| Optic nerve hypoplasia and abnormalities of the central nervous system | |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| Elliptocytosis | hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape |
| Spherocytosis | The presence of erythrocytes that are sphere-shaped. |
| Pyropoikilocytosis | A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. |
| Prenatal anemia | |
| Fibromatosis | A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. |
| Benign familial infantile epilepsy | An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. |
| Benign sporadic infantile epilepsy | |
| Severe myoclonic epilepsy in infancy | |
| Carbamazepine response - Dosage | |
| Alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | |
| ATP1A3-associated neurological disorder | |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. |
| VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS | |
| SECRETOR/NONSECRETOR POLYMORPH | |
| Familial Otitis Media | |
| Bombay phenotype | |
| Oguchi disease | Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. |
| Hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. |
| Malignant hyperthermia of anesthesia | |
| Desflurane response - Toxicity | |
| Malignant hyperthermia | A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. |
| Enflurane response - Toxicity | |
| Succinylcholine response - Toxicity | |
| Central core myopathy | OMIM mapping confirmed by DO. [SN]. |
| King Denborough syndrome | |
| Congenital multicore myopathy | |
| Halothane response - Toxicity | |
| Isoflurane response - Toxicity | |
| Methoxyflurane response - Toxicity | |
| Sevoflurane response - Toxicity | |
| RYR1-related myopathy | |
| History of neonatal hypotonia | |
| Absence of the sacrum | |
| Ptosis | An eye disease characterized by the drooping or falling of the upper or lower eyelid. |
| Oguchi disease- | |
| Congenital stationary night blindness autosomal dominant | |
| Blurred vision | Lack of sharpness of vision resulting in the inability to see fine detail. |
| Peripheral visual field loss | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. |
| Rh-null | |
| Overhydrated hereditary stomatocytosis | |
| Retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| Small cell lung carcinoma | An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05) |
| Vulvar adenocarcinoma of mammary gland | |
| Trilateral retinoblastoma | A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. |
| Hereditary retinoblastoma | |
| Newfoundland cone-rod dystrophy | |
| Bothnia retinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| RPE65-related recessive retinopathy | |
| Renal tubular dysgenesis | |
| Renal tubular dysgenesis of genetic origin | |
| Recombinase activating gene 2 deficiency | |
| Inborn error of immunity | |
| Combined immunodeficiency due to partial RAG1 deficiency | |
| Recombinase activating gene 1 deficiency | A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. |
| Patterned dystrophy of the retinal pigment epithelium | |
| Patterned macular dystrophy | |
| Maculopathy | |
| Autosomal recessive cutis laxa | |
| PYCR1-related de Barsy syndrome | |
| Wiedemann-Rautenstrauch-like progeroid syndrome | |
| Surfactant metabolism dysfunction | |
| Hereditary pulmonary alveolar proteinosis | |
| Deficiency of butyrylcholinesterase | |
| Butyrylcholinesterase deficiency | |
| Combined immunodeficiency due to ZAP70 deficiency | |
| ZAP70-Related Severe Combined Immunodeficiency | |
| Crouzon syndrome | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
| Pfeiffer syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| FGFR2-related craniosynostosis | |
| Antley-Bixler syndrome | An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. |
| Craniosynostosis syndrome | |
| Jackson-Weiss syndrome | |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Scaphocephaly and axenfeld-rieger anomaly | |
| Acrocephalosyndactyly | |
| Meier-Gorlin syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| Beare-Stevenson cutis gyrata syndrome | OMIM mapping confirmed by DO. [SN]. |
| Aural atresia | |
| Craniofacial-skeletal-dermatologic dysplasia | |
| Familial scaphocephaly syndrome | |
| Levy-Hollister syndrome | |
| Congenital prothrombin deficiency | |
| Thrombophilia caused by F2 prothrombin deficiency | |
| Thrombophilia due to protein S deficiency | |
| LEOPARD syndrome | OMIM mapping confirmed by DO. [SN]. |
| Metachondromatosis | Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
| Vascular disorder | |
| Early T cell progenitor acute lymphoblastic leukemia | |
| Acute megakaryoblastic leukemia in down syndrome | |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Obesity due to pro-opiomelanocortin deficiency | |
| Sphingolipid activator protein 1 deficiency | |
| Combined PSAP deficiency | |
| Gaucher disease due to saposin C deficiency | |
| Krabbe disease due to saposin A deficiency | |
| Hyperproinsulinemia | |
| Gerstmann-Straussler-Scheinker syndrome | A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. |
| Inherited Creutzfeldt-Jakob disease | |
| Spongiform encephalopathy | |
| Huntington disease-like | |
| Inherited prion disease | |
| Fatal familial insomnia | OMIM mapping confirmed by DO. [SN]. |
| Reclassified - variant of unknown significance | |
| Hyperthyroxinemia | |
| ATTRV122I amyloidosis | |
| AMYLOIDO | |
| Hereditary amyloidosis | |
| TRANSTHYRETIN POLYMORPH | |
| Sensory ataxic neuropathy | |
| POLG-Related Spectrum Disorders | |
| Autosomal dominant non-syndromic intellectual disability | |
| Abnormality of corpus callosum | |
| Bleeding disorder | |
| Mo ALLOANTIGEN POLYMORPH | |
| Ca/Tu ALLOANTIGEN POLYMORPH | |
| Hyper-IgE recurrent infection syndrome | |
| Congenital plasminogen activator inhibitor deficiency | |
| Dysplasminogenemia | |
| Plasminogen deficiency | |
| Otitis media | A otitis which involves inflammation of the middle ear. |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Coronary sclerosis | |
| Naxos disease | |
| Glycogen storage disease IXb | |
| Glycogen phosphorylase kinase deficiency | |
| Deficiency of phosphoserine phosphatase | |
| Glycogen storage disease IXc | |
| Combined immunodeficiency and megaloblastic anemia | |
| Sudden cardiac death | The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). |
| Cardiac arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. |
| Intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| Hemolytic anemia due to glucophosphate isomerase deficiency | |
| Seborrheic keratosis | OMIM mapping confirmed by DO. [SN]. |
| OVARIAN CAN | |
| CLOVES syndrome | |
| PIK3CA related overgrowth syndrome | |
| Rosette-forming glioneuronal tumor | |
| MACRODACT | |
| CEREBRAL CAVERNOUS MALFORMATIONS | disease cluster belonging to disease group cardiovascular |
| CLAPO syndrome | |
| Cerebrofacial Vascular Metameric Syndrome | |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | |
| Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| Congenital macrodactylia | |
| Klippel-Trenaunay-like-Syndrome | |
| Rare venous malformation | |
| Rare combined vascular malformation | |
| PIK3CA-Related Overgrowth Spectrum Disorders | |
| Macrodactyly of toe | |
| Hemihypertrophy | Overgrowth of only one side of the body. |
| Cavernous lymphangioma | |
| Eccrine angiomatous hamartoma | |
| HEMIFACIAL MYOHYPERPLA | |
| Angioosteohypertrophic syndrome | |
| PIK3CA overgrowth syndrome | |
| Infantile hypophosphatasia | |
| Hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| Adult hypophosphatasia | |
| Childhood hypophosphatasia | |
| Odontohypophosphatasia | |
| Perinatal lethal hypophosphatasia | |
| Low phospholipid associated cholelithiasis | |
| Peroxisome biogenesis disorder 5A | |
| MHC class I deficiency | OMIM mapping confirmed by DO. [SN]. |
| TAP2 POLYMORPH | |
| PEPTIDE TRANSPORTER PSF1 POLYMORPH | |
| TAP1 deficiency | |
| Enzyme activity finding | |
| Primary failure of tooth eruption | |
| MULTIPLE MYEL | |
| VON HIPPEL-LINDAU SYNDR | |
| PAX8 POLYMORPH | |
| Renal coloboma syndrome | Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. |
| Postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| Pallister-Hall syndrome | OMIM mapping confirmed by DO. [SN]. |
| Greig cephalopolysyndactyly syndrome | An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. |
| Polysyndactyly | Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. |
| Dysgerminoma | A germ cell cancer that derives_from cells that give rise to egg cells. |
| Cutaneous mastocytosis | |
| FOXG1 disorder | |
| ERBB2 POLYMORPH | |
| Renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. |
| Hereditary papillary renal cell carcinoma | |
| Osteofibrous dysplasia | |
| Feingold syndrome | Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. |
| Large congenital melanocytic nevus | |
| Neurocutaneous melanocytosis | |
| Nodal T-follicular helper cell lymphoma | |
| Accelerated tumor formation | |
| Multiple endocrine neoplasia | |
| MEN2 pheno: Unclassified | |
| Aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| Thyroid gland carcinoma | |
| Thyroid carcinoma | |
| Medullary thyroid carcinoma | |
| MULTIPLE ENDOCRINE NEOPLA | |
| Non-Hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| Familial cardiofaciocutaneous syndrome | |
| PHACE syndrome | |
| Genetic syndrome | |
| Tethered cord | During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. |
| Dandy-Walker syndrome | OMIM mapping confirmed by DO. [SN]. |
| Proteus syndrome | OMIM mapping confirmed by DO. [SN]. |
| OAS1 polymorphism | |
| Purine-nucleoside phosphorylase deficiency | |
| PNP POLYMORPH | |
| CORONARY ARTERY SPASM | disease cluster belonging to disease group cardiovascular |
| HYPERTENSION RESISTANT TO CONVENTIONAL THER | |
| HYPERTENS | |
| Essential hypertension | A hypertension with no known cause. It is the most common type of hypertension. |
| Warts | |
| WHIM syndrome | WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasionnal hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). |
| Distal muscle weakness | Reduced strength of the musculature of the distal extremities. |
| Peripheral demyelination | A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. |
| Hand muscle atrophy | Muscular atrophy involving the muscles of the hand. |
| Decreased nerve conduction velocity | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| Pes cavus | The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. |
| Distal lower limb muscle weakness | Reduced strength of the distal musculature of the legs. |
| Body mass index quantitative trait locus | |
| Retinal degeneration | |
| Death in early adulthood | Death between the age of 16 and 40 years. |
| Macrothrombocytopenia and granulocyte inclusions | |
| MYH7-related skeletal myopathy | |
| Myosin storage myopathy | |
| Left ventricular noncompaction cardiomyopathy | Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. |
| Chest pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. |
| Arrhythmogenic cardiomyopathy | |
| Aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Visceral myopathy | |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. |
| Hecht syndrome | |
| Carney complex - trismus - pseudocamptodactyly syndrome | |
| Freeman-Sheldon syndrome | |
| Contractures | |
| Congenital amegakaryocytic thrombocytopenia | Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. |
| Primary myelofibrosis | |
| Essential thrombocythemia | |
| Distal lower limb amyotrophy | Muscular atrophy of distal leg muscles. |
| Distal hereditary motor neuropathy | OMIM mapping confirmed by DO. [SN]. |
| CHARCOT-MARIE-TOOTH DISE | |
| Metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| Anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Abetalipoproteinaemia | |
| METABOLIC SYNDR | |
| Metabolic syndrome | |
| Frontotemporal dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| Pick disease | |
| Progressive supranuclear palsy-parkinsonism syndrome | |
| Progressive supranuclear ophthalmoplegia | |
| Supranuclear palsy | |
| Tietz syndrome | Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. |
| Coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| Poliosis | Circumscribed depigmentation of the hair of the head or the eyelashes. |
| Heterochromia iridis | Heterochromia iridis is a difference in the color of the iris in the two eyes. |
| Prelingual sensorineural hearing impairment | A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. |
| Decreased methionine synthase activity | A reduction in methionine synthase activity. |
| Merosin deficient congenital muscular dystrophy | |
| LAMA2-related muscular dystrophy | |
| Qualitative or quantitative defects of merosin | |
| Congenital Muscular Dystrophy | A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. |
| Congenital muscular dystrophy due to partial LAMA2 deficiency | |
| Short stature and advanced bone age | |
| SKIN/HAIR/EYE PIGMENTAT | |
| Increased analgesia from kappa-opioid receptor agonist | |
| Obesity due to melanocortin 4 receptor deficiency | |
| Keutel syndrome | |
| MPI-congenital disorder of glycosylation | |
| Mannose-binding lectin deficiency | |
| LOX POLYMORPH | |
| Gonadotropin-independent familial sexual precocity | |
| Precocious puberty in males | The onset of puberty before the age of 9 years in boys. |
| Leydig cell agenesis | |
| Luteinizing hormone resistance | |
| Leydig hypoplasia | |
| Variant of unknown significance | |
| Isolated lutropin deficiency | |
| Prolonged QT interval | increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| Long QT syndrome 2/ | |
| High density lipoprotein cholesterol level quantitative trait locus | |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated | |
| Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |
| TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDR | |
| LEUKE | |
| Acquired partial lipodystrophy | |
| Congenital muscular dystrophy due to LMNA mutation | |
| Familial partial lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| Hutchinson-Gilford syndrome | |
| Pierson syndrome | |
| LAMB2-related infantile-onset nephrotic syndrome | |
| Junctional epidermolysis bullosa | Xref MGI. |
| Epidermolytic ichthyosis | |
| Epidermolytic hyperkeratosis | OMIM mapping confirmed by DO. [SN]. |
| Annular epidermolytic ichthyosis | |
| Congenital reticular ichthyosiform erythroderma | |
| Epidermolytic acanthoma | |
| Autosomal dominant epidermolytic ichthyosis | |
| Epidermolytic nevus | |
| Pachyonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| Steatocystoma multiplex | Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). |
| Dermatopathia pigmentosa reticularis | |
| Cirrhosis | |
| Hepatitis C virus | |
| Soluble interleukin-6 receptor | |
| Interleukin | An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses. |
| Primary familial polycythemia due to EPO receptor mutation | |
| Acquired polycythemia vera | |
| Myeloproliferative disorder | |
| Polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| Inosine triphosphatase deficiency | |
| Peginterferon alfa-2b and ribavirin response - Toxicity | |
| Motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| Spastic tetraplegia and axial hypotonia | |
| Growth delay due to insulin-like growth factor I resistance | |
| Lupus nephritis | Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982). |
| Pseudomonas aeruginosa | |
| IGG receptor | |
| Autosomal recessive primary immunodeficiency | |
| Anophthalmia | Absence of the globe or eyeball. |
| VSX2-related Microphthalmia | |
| Synpolydactyly | |
| Syndactyly | A synostosis that results_in the fusion of two or more digits. |
| Clear cell carcinoma of kidney | |
| Hepatic adenomas | |
| SERUM HDL CHOLESTEROL LE | |
| Insulin resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| Hyperinsulinism due to HNF1A deficiency | |
| Chromophobe renal cell carcinoma | |
| Cyanosis | A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. |
| HEMOGLOBIN F | |
| HBG1 POLYMORPH | |
| Hereditary persistence of fetal hemoglobin | |
| HEMOGLOBIN ABRU | |
| HEMOGLOBIN AGEN | |
| Beta Thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| HEMOGLOBIN BUNB | |
| HEMOGLOBIN | |
| Hb SS disease | |
| Heinz body anemia | Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. |
| Beta-thalassemia HBB/L | |
| Sickle cell-hemoglobin C disease | |
| Alpha Thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| Dominant beta-thalassemia | |
| Inherited hemoglobinopathy | |
| HEMOGLOBIN CARIBB | |
| HEMOGLOBIN CH | |
| HEMOGLOBIN D | |
| Hb D-Los Angeles | |
| Hemoglobin D disease | |
| HEMOGLOBIN DETR | |
| Beta-plus-thalassemia | |
| Hemoglobin E/beta thalassemia disease | |
| Hemoglobin E disease | |
| Hemoglobin E/beta- thalassemia | |
| HEMOGLOBIN FUKUY | |
| HEMOGLOBIN G | |
| HEMOGLOBIN HAMIL | |
| HEMOGLOBIN HAMMERSM | |
| HEMOGLOBIN J | |
| HEMOGLOBIN K | |
| Beta-thalassemia major | Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. |
| HEMOGLOBIN KNOS | |
| Beta-Knossos-thalassemia | |
| Hemoglobinopathy | |
| HEMOGLOBIN LAS PAL | |
| HEMOGLOBIN LEI | |
| HEMOGLOBIN MA | |
| Beta-Malay-thalassemia | |
| HEMOGLOBIN N | |
| HEMOGLOBIN O | |
| Sickle cell-Hemoglobin O Arab disease | |
| HEMOGLOBIN EG | |
| HEMOGLOBIN OLYM | |
| HEMOGLOBIN RAIN | |
| Sickle cell disease and related diseases | |
| HEMOGLOBIN S | |
| HEMOGLOBIN SAN DI | |
| HEMOGLOBIN SANTA | |
| HEMOGLOBIN SHOWA-YAKUSH | |
| Beta-Showa-Yakushiji thalassemia | |
| HEMOGLOBIN SUMMER H | |
| HEMOGLOBIN TA- | |
| HEMOGLOBIN VILLEJ | |
| Beta zero thalassemia | |
| Beta thalassemia intermedia | |
| HEMOGLOBIN VALLE | |
| HEMOGLOBIN BRES | |
| HEMOGLOBIN DURHAM-N.C. | |
| HEMOGLOBIN BRIS | |
| HEMOGLOBIN ALE | |
| HEMOGLOBIN T | |
| HEMOGLOBIN TE | |
| HEMOGLOBIN E | |
| HEMOGLOBIN ROCKF | |
| Hemoglobin H disease | |
| Hemoglobin constant spring | |
| HEMOGLOBIN ICA | |
| HEMOGLOBIN KOYA D | |
| Hemoglobin Quong Sze | |
| HEMOGLOBIN HASHA | |
| HEMOGLOBIN SE | |
| HEMOGLOBIN L | |
| HEMOGLOBIN SI | |
| HEMOGLOBIN MONTGOM | |
| HEMOGLOBIN BIRMINGHAM | |
| Alpha-thalassemia- | |
| HEMOGLOBIN AGRI | |
| HEMOGLOBIN SEAL R | |
| HEMOGLOBIN SALLANC | |
| HEMOGLOBIN DARTMO | |
| Alpha-thalassemia | |
| HEMOGLOBIN ZURICH ALBISRIE | |
| HEMOGLOBIN PLASEN | |
| HEMOGLOBIN HOPKINS | |
| HEMOGLOBIN M | |
| Methemoglobinemia | |
| HEMOGLOBIN UPPS | |
| HEMOGLOBIN MEX | |
| HEMOGLOBIN QUE | |
| HEMOGLOBIN OW | |
| HEMOGLOBIN PETAH TI | |
| HEMOGLOBIN Q | |
| HEMOGLOBIN UBE- | |
| HEMOGLOBIN AD | |
| HEMOGLOBIN TA | |
| HEMOGLOBIN TUNIS-BIZE | |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Pseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| McCune-Albright syndrome | |
| Sex cord-stromal tumor | |
| ACTH-independent macronodular adrenal hyperplasia | ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term). |
| Progressive osseous heteroplasia | |
| Pseudopseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| Disorders of GNAS Inactivation | |
| Autosomal dominant isolated somatotropin deficiency | |
| Short stature due to growth hormone qualitative anomaly | |
| Ateleiotic dwarfism | |
| Isolated growth hormone deficiency | |
| Capillary malformation-arteriovenous malformation syndrome | |
| Gorham-Stout disease | |
| GRN-related frontotemporal lobar degeneration | |
| Gonadotropin deficiency | A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). |
| Isolated congenital hypogonadotropic hypogonadism | |
| Amenorrhea | |
| Isolated GnRH Deficiency | |
| MACROTHROMBOCYTOPE | |
| Increased mean platelet volume | Average platelet volume above the upper limit of the normal reference interval. |
| RECLASSIFIED - AHSG POLYMORPH | |
| Alopecia-intellectual disability syndrome | |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | |
| Hereditary hyperekplexia | |
| Factor B fast/slow polymorphism | |
| BF*FA/ | |
| Complement factor b deficiency | |
| GPX1 POLYMORPH | |
| Gluthathione peroxidase deficiency | |
| Fanconi-Bickel syndrome | |
| GLUT1 deficiency syndrome | |
| Encephalopathy due to GLUT1 deficiency | |
| Hereditary cryohydrocytosis | |
| Childhood onset GLUT1 deficiency syndrome | |
| Chromosome 17q23.1-q23.2 deletion syndrome | |
| Developmental disorder | |
| Hyperinsulinism-hyperammonemia syndrome | Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. |
| Familial hyperinsulinemia | |
| Cortisone reductase deficiency | |
| Hyperinsulinism due to glucokinase deficiency | |
| NR3C1 POLYMORPH | |
| Glucocorticoid resistance | An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page. |
| Mitochondrial DNA depletion syndrome 6 | |
| Mitochondrial DNA depletion syndrome 15 | |
| Alexander disease | A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. |
| Finnish | |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | |
| GGCX - Related Disorders | |
| EPILE | |
| Tremor | An unintentional, oscillating to-and-fro muscle movement. |
| Hereditary leiomyomatosis and renal cell cancer | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
| Fumarase deficiency | |
| Ovarian hyperstimulation syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cerebral folate transport deficiency | |
| Hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| Delayed puberty | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| Osteoglophonic dysplasia | |
| Trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| Ichthyosis vulgaris | OMIM mapping confirmed by DO. [SN]. |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Eczematoid dermatitis | |
| Atopic eczema | |
| Glomerulopathy | Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. |
| Spondylometaphyseal dysplasia - Sutcliffe | |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | |
| Hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| Muenke syndrome | |
| Crouzon syndrome-acanthosis nigricans syndrome | |
| Thanatophoric dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| Hamartoma | A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. |
| FGFR3-related chondrodysplasia | |
| Malignant neoplastic disease | |
| Lacrimoauriculodentodigital syndrome | |
| FIBRINOGEN TOKYO | |
| Hypofibrinogenemia | Decreased concentration of fibrinogen in the blood. |
| Afibrinogenemia | |
| Familial dysfibrinogenemia | |
| FIBRINOGEN HAIFA | |
| Congenital afibrinogenemia | OMIM mapping confirmed by DO. [SN]. |
| FIBRINOGEN BALTIMORE | |
| FIBRINOGEN AS | |
| FIBRINOGEN CHRISTCHURCH | |
| Dysfibrinogenemia | Qualitatively abnormal fibrinogen. |
| FIBRINOGEN AARHUS | |
| Familial visceral amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| FIBRINOGEN DUS | |
| Familial hypodysfibrinogenemia | |
| Ectopia lentis | Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. |
| Isolated thoracic aortic aneurysm | |
| Aortic dissection | Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. |
| Arachnodactyly | Abnormally long and slender fingers (spider fingers). |
| Lens subluxation | |
| High palate | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | |
| Weill-Marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| Stiff skin syndrome | |
| MASS syndrome | |
| Acromicric dysplasia | Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
| Congenital aneurysm of ascending aorta | |
| Disproportionate tall stature | A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. |
| Neonatal Marfan syndrome | |
| Familial ectopia lentis | |
| MARFAN SYNDR | |
| Hereditary hyperferritinemia | |
| Neuroferritinopathy | Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. |
| L-ferritin deficiency | |
| FABP2 POLYMORPH | |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDR | |
| Venous thrombosis | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. |
| Factor X | |
| Basal laminar drusen | |
| Factor H deficiency | |
| CFH-Related Dense Deposit disease / Membranoproliferative Glomerulonephritis | |
| EPOXIDE HYDROLASE 1 POLYMORPH | |
| Tyrosine kinase inhibitor response | |
| Nonsmall cell lung cancer | |
| Adenocarcinoma of lung | |
| Gefitinib response - Efficacy | |
| EGFR-related lung cancer | |
| Erlotinib response - Efficacy | |
| Inflammatory skin and bowel disease | |
| Glycogen storage disease due to muscle beta-enolase deficiency | |
| Hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| ABCD syndrome | An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). |
| Auriculocondylar syndrome | |
| Mitochondrial neurogastrointestinal encephalomyopathy | |
| Hereditary hemorrhagic telangiectasia | An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| Neuroendocrine pancreatic tumor | |
| Lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| Glutaric acidemia IIb | |
| Supravalvar aortic stenosis | a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root |
| Cyclical neutropenia | |
| Neutropenia | |
| Dejerine-sottas neuropathy | |
| Congenital secretory diarrhea | |
| AUTONOMIC NERVOUS SYSTEM DYSFUNCT | |
| Essential tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| Hypotrichosis simplex | Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
| Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| Miller syndrome | |
| Desmin-related myofibrillar myopathy | |
| Neurogenic scapuloperoneal syndrome | |
| Keratosis palmoplantaris striata | |
| Lethal acantholytic epidermolysis bullosa | |
| Dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| Porphobilinogen synthase deficiency | |
| ALAD*1/ALAD*2 POLYMORPH | |
| Graft-versus-host disease | |
| Cholangiocarcinoma | |
| Corticosterone methyloxidase deficiency | |
| Corticosterone 18-monooxygenase deficiency | |
| Corticosterone methyl oxidase deficiency | |
| Debrisoquine | |
| Tamoxifen response | |
| Tramadol response | |
| Deutetrabenazine response | |
| Mephenytoin | |
| Proguanil | |
| Clopidogrel response | |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| Hashimoto thyroiditis | |
| Celiac disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| Chronic fatigue syndrome | A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. |
| Aculeiform cataract | |
| Cataract 4 multiple | |
| Developmental cataract | a lens opacity that is present before or at birth |
| Cataract 3 multiple | |
| Cataract 9 multiple | |
| Nonsyndromic Deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | |
| Knuckle pads | |
| Palmoplantar keratoderma-deafness syndrome | |
| Mutilating keratoderma | |
| Hereditary palmoplantar keratoderma | |
| Bilateral conductive hearing impairment | A bilateral type of conductive hearing impairment. |
| Severe sensorineural hearing impairment | A severe form of sensorineural hearing impairment. |
| Bilateral sensorineural hearing impairment | A bilateral form of sensorineural hearing impairment. |
| Progressive sensorineural hearing impairment | A progressive form of sensorineural hearing impairment. |
| Complement component 8 deficiency | |
| Complement component 6 deficiency | NT MGI. |
| COMPLEMENT COMPONENT | |
| Complement component 9 deficiency | NT MGI. |
| Eculizumab | |
| Complement component 5 deficiency | OMIM mapping confirmed by DO. [SN]. |
| Lathosterolosis | Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. |
| C3S/C3F POLYMORPH | |
| Complement component 3 deficiency | Xref MGI. |
| C3 POLYMORPH | |
| Familial Atypical Hemolytic-Uremic Syndrome | |
| Complement component C1s deficiency | |
| C1Q deficiency | |
| Lynch-like syndrome | |
| Multicentric osteolysis nodulosis arthropathy spectrum | |
| Multicentric osteolysis | |
| Knobloch syndrome | |
| Otospondylomegaepiphyseal dysplasia | An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. |
| Fibrochondrogenesis | |
| Marshall syndrome | |
| Stickler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Lumbar disk herniation | |
| Intervertebral disc disease | disease cluster belonging to disease group aging |
| Epiphyseal dysplasia | |
| Bethlem myopathy | OMIM mapping confirmed by DO. [SN]. |
| Ullrich congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Collagen 6-related myopathy | |
| COLLAGEN POLYMORPH | |
| Infantile cortical hyperostosis | |
| Abnormality of the skeletal system | An abnormality of the skeletal system. |
| Joint hypermobility | The ability of a joint to move beyond its normal range of motion. |
| Bruising susceptibility | An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. |
| Fragile skin | Skin that splits easily with minimal injury. |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome | |
| Namaqualand hip dysplasia | |
| Spondyloepiphyseal dysplasia congenita | OMIM mapping confirmed by DO. [SN]. |
| Spondyloperipheral dysplasia | |
| Collagenopathy | |
| Kniest dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. |
| Acetabular dysplasia | The presence of developmental dysplasia of the acetabular part of hip bone. |
| Avascular necrosis of femoral head | |
| Legg-Calve-Perthes disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| Autosomal dominant rhegmatogenous retinal detachment | |
| Autosomal recessive Alport syndrome | |
| Benign familial hematuria | |
| Autosomal dominant Alport syndrome | |
| Kidney damage | |
| Recessive dystrophic epidermolysis bullosa | |
| Epidermolysis bullosa dystrophica | |
| Generalized dominant dystrophic epidermolysis bullosa | Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. |
| Dominant dystrophic epidermolysis bullosa | |
| Pretibial dystrophic epidermolysis bullosa | |
| Epidermolysis bullosa pruriginosa | |
| Nonsyndromic congenital nail disorder | |
| Epidermolysis bullosa dystrophica inversa | |
| Transient bullous dermolysis of the newborn | Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
| Abnormal blistering of the skin | The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. |
| Alport syndrome 3b | |
| Wagner syndrome | |
| Autosomal dominant nocturnal frontal lobe epilepsy | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. |
| Lung cancer susceptibility | |
| SMOKING AS A QUANTITATIVE TRAIT LOCUS | |
| Nicotine response - Toxicity | |
| Congenital adrenal insufficiency | OMIM mapping confirmed by DO. [SN]. |
| Hyperalphalipoproteinemia | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. |
| Coronary artery disorder | |
| Congenital myotonia | |
| Batten-Turner congenital myopathy | |
| Myotonia levior | |
| Myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
| EMG: myopathic abnormalities | The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. |
| Desmoid tumor caused by somatic mutation | |
| Desmoid tumor | |
| CATECHOL-O-METHYLTRANSFERASE POLYMORPH | |
| MELANESIAN BLOND H | |
| ALBIN | |
| Myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| Lower-limb joint contracture | |
| Elbow flexion contracture | A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. |
| Calf muscle hypertrophy | Muscle hypertrophy affecting the calf muscles. |
| Shoulder girdle muscle weakness | The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. |
| Limb-girdle muscle weakness | Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. |
| Absent Achilles reflex | Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. |
| Thyrotoxic periodic paralysis | Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. |
| Timothy syndrome | An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. |
| BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS | |
| Congenital hypotrichosis | |
| EEM syndrome | |
| Epithelial recurrent erosion dystrophy | |
| BRCA1-related cancer predisposition | |
| Invasive medullary breast carcinoma | |
| Triple-negative breast cancer | |
| Punctate palmoplantar keratoderma | |
| Memory impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
| DUFFY BLOOD GROUP SYS | |
| Resting heart rate | |
| Autosomal dominant distal renal tubular acidosis | |
| Southeast Asian ovalocytosis | |
| DIEGO BLOOD GROUP ANTI | |
| Cryohydrocytosis | |
| Darier disease | |
| Keratosis follicularis | OMIM mapping confirmed by DO. [SN]. |
| Acrokeratosis verruciformis of Hopf | |
| RECLASSIFIED - ATP2B2 POLYMORPH | |
| Brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| NAT1*17 ALL | |
| Deficiency of aromatic-L-amino-acid decarboxylase | |
| Aromatase deficiency | Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. |
| Aromatase excess syndrome | |
| Atorvastatin response - Efficacy | |
| Lipoprotein glomerulopathy | |
| Familial hypobetalipoproteinemia | |
| APOLIPOPROTEIN A-IV POLYMORPH | |
| APOLIPOPROTEIN A-I | |
| Familial amyloid polyneuropathy | |
| Disseminated atypical mycobacterial infection | |
| IFN-gamma receptor 1 deficiency | |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | |
| Helicobacter pylori infection | |
| PI M1-ALA | |
| Alpha-1-antitrypsin deficiency | |
| PI | |
| Chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| PI N | |
| Pyridoxine-dependent epilepsy | |
| Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant | |
| Hereditary antithrombin deficiency | |
| ANTICHYMOTRYPSIN BONN | |
| Antichymotrypsin deficiency-alpha- | |
| ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPH | |
| Microvascular complications of diabetes | |
| Hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| Hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| Hypertensive disorder | |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| ABeta amyloidosis | |
| Cerebral amyloid angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Primary degenerative dementia of the Alzheimer | |
| Aminoacylase 1 deficiency | |
| Acne inversa | |
| ALPHA-2-MACROGLOBULIN POLYMORPH | |
| Mitochondrial DNA depletion syndrome 12B | |
| Mitochondrial respiratory chain defects | |
| Abnormality of mitochondrial metabolism | A functional anomaly of mitochondria. |
| Inborn mitochondrial myopathy | |
| Vertigo | An abnormal sensation of spinning while the body is actually stationary. |
| Left ventricular hypertrophy | |
| Reticular dysgenesis | A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. |
| Hydrochlorothiazide response - Efficacy | |
| Baraitser-Winter syndrome | |
| Developmental malformations-deafness-dystonia syndrome | |
| ACTB-related BAFopathy | |
| Moyamoya disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| Actin accumulation myopathy | |
| ACTA1-related myopathies | |
| Congenital myopathy 2b | |
| Congenital myopathy 2c | |
| Progressive scapulohumeroperoneal distal myopathy | |
| Alpha-actinopathy | |
| Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
| STAT3 gain of function | |
| STAT3-related early-onset multisystem autoimmune disease | |
| Hyper-IgE syndrome | |
| Progressive myositis ossificans | |
| Epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| Autosomal recessive multiple pterygium syndrome | |
| Lethal multiple pterygium syndrome | |
| Myasthenic syndrome | |
| Alcohol sensitivity | |
| Alcohol dependence | A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol. |
| SUBLINGUAL NITROGLYCE | |
| Susceptibility to hangover | |
| ESOPHAGEAL CAN | |
| AMED syndrome | |
| Ethanol response - Toxicity | |
| DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE | |
| SRD5A3-congenital disorder of glycosylation | |
| Posterior column ataxia-retinitis pigmentosa syndrome | |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | |
| INTELLECTUAL DEVELOPMENTAL DISOR | |
| Infantile cerebral and cerebellar atrophy | |
| T-substance anomaly | |
| Myokymia | Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. |
| Hereditary episodic ataxia | |
| Elevated circulating 7-dehydrocholesterol concentration | |
| Small for gestational age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| 2-3 toe syndactyly | Syndactyly with fusion of toes two and three. |
| Primary microcephaly | |
| FLNB-Related Spectrum Disorders | |
| Association | |
| History of neurodevelopmental disorder | |
| Benign neonatal seizures | A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. |
| Benign Neonatal Epilepsy | |
| Infantile nephropathic cystinosis | |
| CNS demyelination | A loss of myelin from nerve fibers in the central nervous system. |
| Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Hypomyelination and Congenital Cataract | |
| Mild proteinuria | Mildly increased levels of protein in the urine (150-500 mg per day in adults). |
| Myhre syndrome | |
| Juvenile polyposis of stomach | |
| Appendicitis | A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. |
| Carnitine deficiency | |
| Abnormality of immune system physiology | A functional abnormality of the immune system. |
| Pulmonary disease | disease cluster belonging to disease group immune |
| Oligosynaptic infertility | |
| Malignant hypothermia | |
| Alterations of great arteries and veins | |
| Multisystemic smooth muscle dysfunction syndrome | |
| Porencephaly | NT MGI. |
| Skin erosion | A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. |
| Nail dystrophy | Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. |
| Anonychia | Aplasia of the nail. |
| Efavirenz response | |
| Efavirenz response - Metabolism/ | |
| Efavirenz response - Toxicity | |
| Nevirapine response - Metabolism/ | |
| Hypercalcemia | |
| Muscle spasm | an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions |
| Hereditary sensory neuropathy-deafness-dementia syndrome | |
| Autosomal dominant cerebellar ataxia | |
| Classic dopamine transporter deficiency syndrome | |
| Parkinsonism-dystonia | |
| Hereditary arterial and articular multiple calcification syndrome | |
| Monocytopenia | An decreased number of circulating monocytes. |
| Deafness-lymphedema-leukemia syndrome | |
| GATA2 deficiency | |
| Myelodysplastic syndrome | Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells.|A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) |
| Idiopathic basal ganglia calcification | |
| Hereditary diffuse leukoencephalopathy | |
| Spondyloenchondrodysplasia | |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | |
| Bent bone dysplasia syndrome | |
| Proteasome-associated autoinflammatory syndrome | |
| Proteosome-associated autoinflammatory syndrome | |
| Infantile spasms | Infantile spasms represent a subset of epileptic spasms. Infantile Spasms are epileptic spasms starting in the first year of life (infancy). |
| Okt4 epitope deficiency | |
| Telomere syndrome | |
| X-Linked Neutropenia | |
| Multiple congenital anomalies-hypotonia-seizures syndrome | |
| Nicolaides-Baraitser syndrome | |
| SMARCA2-related BAFopathy | |
| Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy | |
| Rubinstein-Taybi syndrome | An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
| Blue rubber bleb nevus | |
| Trichohepatoenteric syndrome | |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| Chronic mucocutaneous candidiasis | A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. |
| Susceptibility to coronavirus disease | |
| Antisynthetase syndrome | |
| PEHO syndrome | |
| Osteodysplastic primordial dwarfism | |
| Roifman syndrome | |
| Lowry-Wood syndrome | |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| Congenital diaphragmatic hernia | A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. |
| Autosomal systemic lupus erythematosus | |
| MGAT2-congenital disorder of glycosylation | |
| Abnormal glycosylation | An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. |
| Coffin-Siris syndrome | A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. |
| BAP1-related tumor predisposition syndrome | |
| Aneurysm-osteoarthritis syndrome | |
| URIC ACID CONCENTRAT | |
| BLOOD GR | |
| Rosuvastatin response - Efficacy | |
| Gemcitabine response | |
| Rosuvastatin response - Metabolism/ | |
| Mandibulofacial dysostosis-microcephaly syndrome | |
| Rafiq syndrome | |
| Occipital pachygyria and polymicrogyria | |
| Mitochondrial DNA depletion syndrome 8a | |
| Rotor syndrome | Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. |
| Radial aplasia-thrombocytopenia syndrome | |
| Clinodactyly of the 5th finger | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| EMG abnormality | Abnormal results of investigations using electromyography (EMG). |
| Clubfoot | OMIM mapping confirmed by DO. [SN]. |
| Generalized pustular psoriasis | |
| Acrodermatitis continua suppurativa of Hallopeau | |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | |
| Genitopatellar syndrome | |
| Diffuse intrinsic pontine glioma | |
| CHIME syndrome | Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
| Syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| WFS1-spectrum disorder | |
| Euthyroid goiter | A goiter that is not associated with functional thyroid abnormalities. |
| MULTIPLE JOINT DISLOCATI | |
| Multiple joint dislocations | |
| Candidiasis | An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. |
| Klippel-Feil syndrome | A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. |
| Combined oxidative phosphorylation deficiency | |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | |
| Galactosylceramide beta-galactosidase deficiency | |
| Bruck syndrome | |
| Multiple mitochondrial dysfunctions syndrome | |
| Developmental delay and seizures | |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | |
| Diaphanospondylodysostosis | |
| Hypomyelinating leukodystrophy | |
| Multicentric carpo-tarsal osteolysis | |
| NDE1-related microhydranencephaly | |
| Sengers syndrome | |
| Familial Autism Spectrum Disorder | |
| Acyl-CoA dehydrogenase 9 deficiency | Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. |
| Acrocallosal syndrome | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. |
| Autosomal dominant limb-girdle muscular dystrophy | |
| Floating-Harbor syndrome | Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. |
| Developmental delay | |
| Pulmonary hypoplasia | |
| Congenital myopathy 10b | |
| MEGF10-related myopathy | |
| Bohring-Opitz syndrome | |
| Dystrophia | |
| Cerebroretinal microangiopathy | |
| Coats plus syndrome | Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. |
| Nanophthalmia | |
| Kel6 antigen | |
| Chondrodysplasia | |
| Brittle cornea syndrome | |
| BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCIN | |
| 5-Oxoprolinase deficiency | |
| Combined malonic and methylmalonic acidemia | |
| POLR-related leukodystrophy | |
| Neonatal pseudo-hydrocephalic progeroid syndrome | |
| Episodic kinesigenic dyskinesia | |
| Infantile convulsions and choreoathetosis | |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | |
| Neonatal-onset encephalopathy | |
| ARID1B-related BAFopathy | |
| Orofaciodigital syndrome | A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. |
| Amelocerebrohypohidrotic syndrome | |
| Glutaric acidemia | An increased concentration of glutaric acid in the blood. |
| Woodhouse-Sakati syndrome | Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
| Autosomal dominant sensory ataxia | |
| Acyl-CoA dehydrogenase deficiency | |
| Hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| Nager syndrome | Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. |
| Autosomal dominant aplasia and myelodysplasia | |
| Saldino-Mainzer syndrome | |
| Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | |
| Koolen-de Vries syndrome | |
| Congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| MYPN-related myopathy | |
| Arthrogryposis multiplex congenita distal | |
| Simvastatin acid response - Metabolism/ | |
| Simvastatin response - Metabolism/ | |
| Fluvastatin response - Metabolism/ | |
| Fluvastatin response - Toxicity | |
| Lovastatin acid response - Metabolism/ | |
| Simvastatin response - Toxicity | |
| Hmg coa reductase inhibitors response - Toxicity | |
| Atorvastatin response - Toxicity | |
| Atorvastatin response - Metabolism/ | |
| Lovastatin response - Metabolism/ | |
| Pitavastatin response - Metabolism/ | |
| Rosuvastatin response - Toxicity | |
| Lovastatin response - Toxicity | |
| Pravastatin response - Toxicity | |
| PIK3CA-related overgrowth | |
| Capillary malformation | |
| Hypertrichotic osteochondrodysplasia Cantu | |
| Combined immunodeficiency due to LRBA deficiency | |
| Mitochondrial hypertrophic cardiomyopathy | |
| Mitochondrial oxidative phosphorylation disorder | |
| IMAGe syndrome | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. |
| Schinzel phocomelia syndrome | |
| Fuhrmann syndrome | |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | |
| ASAH1-related disorders | |
| NEVUS SPI | |
| SPITZ NE | |
| Cutaneous-skeletal hypophosphatemia syndrome | |
| Pityriasis rubra pilaris | OMIM mapping confirmed by DO. [SN]. |
| Papulosquamous eruptions | |
| ALG11-congenital disorder of glycosylation | |
| Postmenopausal osteoporosis | Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. |
| Increased susceptibility to fractures | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| Systolic heart failure | |
| Woolly hair-skin fragility syndrome | |
| FNB1 POLYMORPH | |
| Acute aortic dissection | |
| Gestational diabetes | |
| Idiopathic growth hormone deficiency | |
| Beta-thalassemia | |
| Interferon gamma receptor deficiency | |
| Pancreatic hypoplasia | Hypoplasia of the pancreas. |
| Diabetes | |
| Laminopathy | |
| Heart-hand syndrome | |
| Lipoatrophy | Localized loss of fat tissue. |
| Malignant tumor of ascending colon | |
| Intellectual developmental disorder | |
| Asymmetric septal hypertrophy | Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. |
| Short fetal femur length | |
| Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | |
| Congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| Pulmonary valve stenosis | |
| Paraganglioma | Xref MGI. |
| Qualitative or quantitative defects of delta-sarcoglycan | |
| Tropical pancreatitis | |
| Symphalangism affecting the proximal phalanx of the 4th finger | |
| Reduced delayed hypersensitivity | Decreased ability to react to a delayed hypersensitivity skin test. |
| Thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| Common Variable Immune Deficiency | |
| DPAGT1-congenital disorder of glycosylation | |
| Marshall-Smith syndrome | A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. |
| Associated | |
| Short stature-optic atrophy-Pelger-Huet anomaly syndrome | |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | |
| Karyomegalic interstitial nephritis | |
| Tetraparesis | Weakness of all four limbs. |
| Oculogyric crisis | |
| Spermatogenic failure | |
| Myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Demyelinating peripheral neuropathy | Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. |
| MICROCEPH | |
| Primary immunodeficiency | |
| CFHR5 deficiency | |
| Shprintzen-Goldberg syndrome | |
| Autosomal recessive axonal neuropathy | |
| Combined immunodeficiency due to STK4 deficiency | |
| Bilateral breast cancer | A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. |
| Infiltrating duct carcinoma of breast | |
| Ovarian serous surface papillary adenocarcinoma | |
| Abnormality of the ovary | An abnormality of the ovary. |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Metastatic Prostate Small Cell Carcinoma | |
| Inherited prostate cancer | |
| Genetic non-acquired premature ovarian failure | |
| MPV17-related mitochondrial DNA maintenance defect | |
| Recurrent pancreatitis | A recurrent form of pancreatitis. |
| Brain abnormalities | |
| Autosomal recessive titinopathy | |
| Fibromuscular dysplasia | |
| Juvenile osteochondrosis of spine | |
| Autosomal recessive dyskeratosis congenita | |
| Vascular parkinsonism | |
| Symmetrical dyschromatosis of extremities | |
| Opsismodysplasia | |
| Congenital nonbullous ichthyosiform erythroderma | |
| Ectopia lentis et pupillae | |
| 2-aminoadipic 2-oxoadipic aciduria | |
| Spinocerebellar ataxia / | |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | |
| Schuurs-Hoeijmakers syndrome | |
| PACS1-related syndrome | |
| Basal ganglia calcification | A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. |
| Epilepsy syndrome | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. |
| Hereditary macular dystrophy | |
| Isolated cleft palate | |
| Severe intellectual disability-progressive spastic diplegia syndrome | |
| Landau-Kleffner syndrome | OMIM mapping confirmed by DO. [SN]. |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| Sinoatrial node dysfunction and deafness | |
| PRRT2-associated paroxysmal movement disorder | |
| PGM1-congenital disorder of glycosylation | |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | |
| Capillary hemangioma | |
| Mitochondrial encephalomyopathy | |
| MTFMT-Related Disorders | |
| X-linked progressive cerebellar ataxia | |
| MEDNIK syndrome | |
| Neutral lipid storage myopathy | |
| Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| Vici syndrome | Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
| Cystic fibrosis-gastritis-megaloblastic anemia syndrome | |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | |
| Polymerase proofreading-related adenomatous polyposis | |
| Focal T2 hyperintense basal ganglia lesion | A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. |
| Lactic acidosis | An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. |
| AXIN2-related attenuated familial adenomatous polyposis | |
| Noonan-like syndrome | |
| Pulmonic stenosis | |
| KRAS-related RASopathy | |
| Increased nuchal translucency | The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). |
| Brachycephaly | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| Neurodevelopmental abnormality | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Strabismus | |
| Scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| Cafe-au-lait spot | Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. |
| Specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| Neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Fetal cystic hygroma | The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. |
| Abnormal sternum morphology | any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process |
| Abnormal aortic valve morphology | any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) |
| MAP2K1-related RASopathy | |
| Lymphoproliferative syndrome | |
| Familial isolated pituitary adenoma | |
| Hajdu-Cheney syndrome | OMIM mapping confirmed by DO. [SN]. |
| SPG11-related spastic paraplegia | |
| Mitochondrial DNA deletion syndrome | |
| Welander distal myopathy | |
| Stormorken syndrome | |
| Combined immunodeficiency due to STIM1 deficiency | |
| Hereditary cancer | |
| Neoplasm of the liver | |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Piebaldism | OMIM mapping confirmed by DO. [SN]. |
| Bile duct cancer | A biliary tract cancer that is located_in the bile duct. |
| Tuberous sclerosis and lymphangiomyomatosis | |
| Idiopathic hypereosinophilic syndrome | |
| Myeloproliferative neoplasm | |
| Polyps | |
| Cataract 16 multiple | |
| Fatal infantile hypertonic myofibrillar myopathy | |
| Cataract 39 multiple | |
| Qualitative or quantitative defects of beta-sarcoglycan | |
| Deficiency of ferroxidase | |
| 2-hydroxyglutaric aciduria | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. |
| Endocardial fibroelastosis | An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | |
| Isolated Nonsyndromic Congenital Heart disease | |
| Familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| Hyprtrophic cardiomyopathy | |
| Premature ventricular contraction | |
| Familial cardiomyopathy | |
| Scapuloperoneal myopathy | A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. |
| Increased left ventricular wall thickness | |
| Ebstein anomaly | A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. |
| Meniere disease | |
| Nonsyndromic Hearing Loss | a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear |
| Diabetic retinopathy | Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | |
| Neural tube defect | |
| Caudal regression sequence | |
| Hypodontia | |
| Anhidrotic ectodermal dysplasia | |
| Scapuloperoneal weakness | |
| Heart failure | |
| Charcot-Marie-Tooth | |
| Nonsyndromic sensorineural hearing loss | |
| DSP-related arrhythmogenic cardiomyopathy | |
| Epidermolysis bullosa simplex due to plakophilin deficiency | |
| Family history of cardiomyopathy | |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | |
| Male subfertility | |
| Intellectual disability and myopathy syndrome | |
| Congenital total pulmonary venous return anomaly | |
| ANKRD1-related dilated cardiomyopathy | |
| Non-Syndromic Hereditary Hearing Impairment | |
| Atypical Gaucher disease | |
| Sudden cardiac arrest | |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | |
| Early-onset myopathy | |
| TTN-related myopathy | |
| Familial dilated cardiomyopathy and peripheral neuropathy | |
| Supraventricular tachycardia | Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. |
| Auditory neuropathy spectrum disorder | |
| BENTA disease | |
| Severe combined immunodeficiency due to CARD11 deficiency | |
| Osteopenia | Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Cardiac rhabdomyoma | A benign tumor of cardiac striated muscle. |
| Multiple renal cysts | The presence of many cysts in the kidney. |
| Cortical tubers | Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. |
| Renal insufficiency | |
| Cortical dysplasia | The presence of developmental dysplasia of the cerebral cortex. |
| Renal cortical cysts | Cysts of the cortex of the kidney. |
| Neoplasm of brain | |
| OSTEOPORO | |
| CEDNIK syndrome | |
| KAT6B-related multiple congenital anomalies syndrome | |
| SLC35A2-congenital disorder of glycosylation | |
| Intestinal pseudo-obstruction | |
| Congenital short bowel syndrome | Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. |
| Gastrointestinal defects and immunodeficiency syndrome | |
| Multiple gastrointestinal atresias | |
| Gastrointestinal defect and immunodeficiency syndrome | |
| C2 deficiency | |
| Microcephaly-capillary malformation syndrome | |
| Familial focal epilepsy | |
| Sturge-Weber syndrome | Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
| Hemangiomatosis | |
| Familial multiple nevi flammei | |
| GAPO syndrome | GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations |
| Cataract 14 multiple | |
| Phelan-McDermid syndrome | |
| Cataract 15 multiple | |
| Congenital disorder of deglycosylation | |
| Wieacker-Wolff syndrome | |
| Carcinoma of male breast | |
| Carcinoma of esophagus | |
| Neuroendocrine tumor of pancreas | |
| KCNQ1-related epilepsy | |
| Congenital bilateral absence of vas deferens | |
| Lung disease | A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. |
| Breast and colorectal cancer | |
| Infant- glioma | |
| Dehydrated hereditary stomatocytosis | |
| Lymphatic malformation | |
| Blood group | |
| Precursor B-cell acute lymphoblastic leukemia | |
| XFE progeroid syndrome | |
| ERCC4-Related Disorders | |
| Autosomal recessive cerebellar ataxia | |
| Hypoplastic left heart syndrome | A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. |
| Aortic valve atresia | A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. |
| Mitral atresia disorder | |
| Familial atrioventricular septal defect | |
| Visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. |
| Pulmonary atresia | |
| Single Ventricle Defect | |
| Infantile myofibromatosis | |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | |
| Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | |
| LARS2-Related Disorders | |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | |
| Severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| TCF12-related craniosynostosis | |
| Chitayat syndrome | |
| Polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| Intestinal obstruction | |
| Ciliopathy | Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. |
| Anencephaly | |
| Infantile Nephrotic syndrome | |
| Congenital nephrotic syndrome | |
| Cornea plana | NT MGI. |
| Congenital muscular alpha-dystroglycanopathy | |
| Myopathy caused by variation in POMG | |
| Autosomal dominant Kenny-Caffey syndrome | |
| Osteocraniostenosis | Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. |
| Caused by mutation in the TBC1 domain family | |
| SHORT syndrome | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Mandibular hypoplasia-deafness-progeroid syndrome | |
| Nephrolithiasis susceptibility caused by SLC2 | |
| Hypersulfaturia | |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | |
| Premature ovarian insufficiency | |
| Hereditary glaucoma | |
| CPT1A ARCTIC VARI | |
| CPT1A POLYMORPH | |
| Idiopathic camptocormia | |
| Weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| Myostatin-related muscle hypertrophy | |
| CONE-ROD DYSTRO | |
| Juvenile retinitis pigmentosa | |
| PRRT2 insufficiency | |
| Self-limited familial infantile epilepsy | |
| PRRT2-Associated Paroxysmal Movement Disorders | |
| Convulsions | |
| Coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| Aldosterone-producing adenoma | |
| Rare genetic intellectual disability | |
| GNAO1-Related Neurodevelopmental Disorder | |
| Dowling-Degos disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. |
| Palmoplantar blistering | A type of blistering that affects the skin of the palms of the hands and the soles of the feet. |
| Skin fragility | |
| White sponge nevus | |
| Adult-onset autosomal dominant demyelinating leukodystrophy | |
| Diffuse nonepidermolytic palmoplantar keratoderma | |
| Family history of sudden cardiac death | |
| Collapse | |
| Torsades de pointes | |
| Coagulation factor deficiency syndrome | |
| Ectodermal dysplasia and immunodeficiency | |
| Incontinentia pigmenti syndrome | |
| Autoinflammatory disease | |
| Glycogen storage disease due to SLC37A4 mutation | |
| Atypical coarctation of aorta | |
| Chronic and progressive ataxia | |
| Enlarged cisterna magna | Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. |
| Ataxia _ Neurologic | |
| Non-progressive congenital cerebellar ataxia | |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | |
| Congenital ocular coloboma | |
| Cataract 10 multiple | |
| Focal epilepsy | An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. |
| Macrocephaly and epileptic encephalopathy | |
| Abnormality of connective tissue | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Familial episodic pain syndrome | |
| MIRAGE syndrome | |
| Normophosphatemic familial tumoral calcinosis | |
| Monosomy 7 myelodysplasia and leukemia syndrome | |
| Tobacco use disorder | |
| Muscle AMP deaminase deficiency | |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| Congenital contractural arachnodactyly | |
| Singleton-Merten syndrome | |
| Combined immunodeficiency due to DOCK8 deficiency | |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | |
| CTCF-related syndromic intellectual disability | |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | |
| Palmoplantar keratoderma i | |
| Epidermal disease | |
| Moyamoya angiopathy | |
| Immunodeficiency 14b | |
| Alacrima | Absence of tear secretion. |
| Chromosomal instability | abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity |
| Idiopathic CD4 lymphocytopenia | |
| Bailey-Bloch congenital myopathy | |
| Fuchs' endothelial dystrophy | A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. |
| Early-onset Parkinson disease | |
| High myopia-sensorineural deafness syndrome | |
| KMT2C-related | |
| Craniopharyngioma | |
| Schaaf-Yang syndrome | |
| Episodic pain syndrome | |
| Autism spectrum disorder - epilepsy - arthrogryposis syndrome | |
| Sigmoid colon cancer | |
| Colonic neoplasm | |
| Ovarian cyst | Ovarian cysts are small fluid-filled sacs that develop in a woman's ovaries. |
| Hereditary nonpolyposis colorectal carcinoma | |
| Colonic diverticula | |
| Burkitt lymphoma | A mature B-cell neoplasm of B-cells found in the germinal center. |
| DOORS syndrome | DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
| Peritoneum cancer | An organ system cancer that is located in the peritoneum. |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| Aldosterone-producing adrenal adenoma | |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | |
| Spastic gait | |
| Hereditary disease | |
| Metabolic myopathy | |
| Elevated circulating glutaric acid concentration | |
| Calcium oxalate urolithiasis | |
| Brunner syndrome | |
| Adult-onset foveomacular vitelliform dystrophy | |
| Benign concentric annular macular dystrophy | |
| Retinal atrophy | |
| Central scotoma | An area of depressed vision located at the point of fixation and that interferes with central vision. |
| X-linked Opitz G/BBB syndrome | |
| Myalgia | A tendency to experience muscle pain. |
| Exercise-induced myalgia | The occurrence of an unusually high amount of muscle pain following exercise. |
| Alpha-thalassemia/intellectual disability syndrome | |
| Multiminicore myopathy | |
| Congenital hip dislocation | |
| Generalized muscle weakness | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| Maffucci syndrome | |
| Tobacco addiction | |
| NICOTINE ADDICT | |
| Syndromic X-linked intellectual disability | |
| X-linked central congenital hypothyroidism | |
| VACT | |
| Erythrocyte AMP deaminase deficiency | |
| Short rib-polydactyly syndrome | |
| Pitt-Hopkins-like syndrome | |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | |
| Patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| Abnormality of the face | An abnormality of the face. |
| Ventral hernia | |
| B4GALT1-congenital disorder of glycosylation | |
| Collagenopathies | |
| Myosclerosis | |
| Fragile X syndrome | A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. |
| Fragile X-associated tremor/ataxia syndrome | A neurodegenerative disease that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
| FR | |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | |
| Small fiber neuropathy | |
| Branchial cleft anomaly | |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | |
| Miyoshi myopathy | Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes. |
| Holoprosencephaly sequence | |
| Intermediate muscular dystrophy | |
| Syndromic X-linked intellectual disability Claes-Jensen | |
| Bamforth-Lazarus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Peroxisome biogenesis disorder 13A | |
| Oculopharyngeal muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| MPDU1-congenital disorder of glycosylation | |
| Norman-Roberts syndrome | |
| Familial temporal lobe epilepsy | |
| MOGS-congenital disorder of glycosylation | |
| De Lange syndrome | |
| COG5-congenital disorder of glycosylation | |
| SLC35A1-congenital disorder of glycosylation | |
| Limb-girdle muscular dystrophy due to POMK deficiency | |
| Myopathy caused by variation in PO | |
| Microcephalic osteodysplastic dysplasia | |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | |
| Oculofaciocardiodental syndrome | |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Fowler syndrome | |
| COG1 congenital disorder of glycosylation | |
| COG6-congenital disorder of glycosylation | |
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | |
| Amish lethal microcephaly | Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. |
| ALG8 congenital disorder of glycosylation | |
| Familial cystic renal disease | |
| Kahrizi syndrome | An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. |
| Gillessen-Kaesbach-Nishimura syndrome | |
| Smith-Magenis syndrome | Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
| X-linked immunodeficiency | |
| Caroli disease | |
| Retinal cone dystrophy | |
| Lymphedema | |
| ANO5-Related Muscle diseases | |
| Familial pulmonary capillary hemangiomatosis | |
| Hyperzincemia and hypercalprotectinemia | |
| Yao syndrome | |
| Psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| Mental deterioration | Loss of previously present mental abilities, generally in adults. |
| Early-onset autosomal dominant Alzheimer disease | |
| Primary progressive aphasia | Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms). |
| MAPT-Related Spectrum Disorders | |
| Abnormality of retinal pigmentation | |
| Cone dystrophy and rod monochromatism | |
| Abnormal retinal morphology | |
| Vitreoretinopathy | |
| Visual loss | Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that). |
| Iron Overload | |
| Oroticaciduria | increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine |
| Hereditary orotic aciduria | |
| Prolonged bleeding time | Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. |
| CNGB1-related retinopathy | |
| DK1-congenital disorder of glycosylation | |
| Macrocephaly-developmental delay syndrome | |
| EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | |
| Martsolf syndrome | |
| Greenberg dysplasia | |
| Pelger-Huet anomaly | OMIM mapping confirmed by DO. [SN]. |
| Polymorphous corneal dystrophy | |
| LZTR1-related schwannomatosis | |
| Schwannomatosis | |
| Proximal myopathy | |
| Cerebral autosomal dominant arteriopathy | |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | |
| Connective and Soft Tissue Disorder | |
| Alzheimer disease familial | |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | |
| Hypotension | Blood pressure that is abnormally low. |
| Vasculitis due to ADA2 deficiency | |
| Sneddon syndrome | |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | |
| Foveal hypoplasia 2 and optic nerve misrouting | |
| Pancytopenia-developmental delay syndrome | |
| Microprolactinoma | |
| Coffin Siris/Intellectual Disability | |
| Blepharophimosis-impaired intellectual development syndrome | |
| Otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| Sea-blue histiocyte syndrome | OMIM mapping confirmed by DO. [SN]. |
| Skeletal dysplasia and progressive central nervous system degeneration | |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| PALB2-related cancer predisposition | |
| Anaplastic ependymoma | |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | |
| Multiple benign circumferential skin creases on limbs | |
| Dias-Logan syndrome | |
| Proline dehydrogenase deficiency | |
| APC-related attenuated familial adenomatous polyposis | |
| Gastric adenocarcinoma and proximal polyposis of the stomach | |
| Colorectal adenoma | |
| ATM-related cancer predisposition syndrome | |
| Malignant glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| Bannayan-Riley-Ruvalcaba syndrome | OMIM mapping confirmed by DO. [SN]. |
| Triple-Negative Breast Cancer Finding | |
| BARD1-related cancer predisposition | |
| B-cell chronic lymphocytic leukemia | |
| Colorectal polyposis | Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. |
| Blepharocheilodontic syndrome | |
| Anophthalmia-microphthalmia syndrome | |
| Neoplasm of the skin | |
| HOXB13-Related Cancer Predisposition | |
| Predisposition to cancer | disease cluster belonging to disease group cancer |
| TUMOR PREDISPOSITION SYNDROME | |
| Pancreatic adenocarcinoma | |
| Hereditary site-specific ovarian cancer syndrome | |
| Asplenia | Absence (aplasia) of the spleen. |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | |
| Infantile cerebellar-retinal degeneration | A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. |
| Stuttering | An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. |
| Triangular shaped proximal phalanx of the thumb | |
| Neutrophilia in presence of infection | |
| Isolated systolic hypertension | |
| Periventricular heterotopia | |
| Genetic developmental and epileptic encephalopathy | |
| Fetal akinesia | |
| Branched-chain keto acid dehydrogenase kinase deficiency | |
| Cerebellar dysfunction | |
| Megaconial muscular dystrophy | |
| CIDEC-related familial partial lipodystrophy | |
| Compton-North congenital myopathy | |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| Familial steroid-resistant nephrotic syndrome | |
| CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPH | |
| Pyruvate dehydrogenase E2 deficiency | Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. |
| Steinert myotonic dystrophy syndrome | |
| MEHMO syndrome | |
| COFS syndrome | Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
| Persistent truncus arteriosus | |
| Glycosuria | An increased concentration of glucose in the urine. |
| Gillespie syndrome | |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| Cerebellar atrophy | Atrophy (wasting) of the cerebellum. |
| Liang-Wang syndrome | |
| Infantile bilateral striatal necrosis | |
| Pyruvate dehydrogenase E1-beta deficiency | Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia. |
| Pyruvate dehydrogenase phosphatase deficiency | Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. |
| Early Infantile Epileptic Encephalopathy | |
| PLIN1-related familial partial lipodystrophy | |
| Jawad syndrome | |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | |
| Microcephalic primordial dwarfism due to RTTN deficiency | |
| Exercise-induced hyperinsulinism | |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | |
| Metabolic myopathy due to lactate transporter defect | |
| Thiamine-responsive megaloblastic anemia | A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. |
| Progressive demyelinating neuropathy | |
| Acanthosis nigricans | OMIM mapping confirmed by DO. [SN]. |
| Creatine deficiency syndrome | |
| Rolandic epilepsy | |
| Familial infantile myoclonic epilepsy | |
| Orofacial-digital syndrome | |
| Fatal Infantile Cardioencephalomyopathy | |
| Urocanate hydratase deficiency | |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | |
| Galloway-Mowat syndrome | |
| Hereditary inclusion-body myopathy | |
| Chronic pancreatitis | A chronic form of pancreatitis. |
| Noise induced hearing loss | |
| Breast and Ovarian Cancer Susceptibility | |
| Triple-negative breast carcinoma | |
| Rieger anomaly | A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. |
| Visceral neuropathy | |
| Chronic intestinal pseudoobstruction | |
| Constipation | |
| Megacystis | Dilatation of the bladder postnatally. |
| Paroxysmal nocturnal hemoglobinuria | NT MGI. |
| Pseudoexfoliation glaucoma | |
| Multiminicore/minicore/multicore disease | |
| Pelvic girdle muscle weakness | Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. |
| Proximal muscle weakness | A lack of strength of the proximal muscles. |
| Central core disease | |
| Autism spectrum disorder due to AUTS2 deficiency | |
| Sleep apnea | A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | |
| Neuroblastoma Susceptibility | |
| Kury-Isidor syndrome | |
| Immunodeficiency 11b | |
| Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | |
| Tatton-Brown-Rahman overgrowth syndrome | |
| Ketotic hypoglycemia | |
| Mixed Pheno Leukemia | |
| Langer-Giedion syndrome | |
| Isolated Coronal Synostosis | |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| Pyogenic bacterial infections due to MyD88 deficiency | Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. |
| Congenital heart anomalies | |
| Alagille syndrome due to a NOTCH2 point mutation | |
| Haddad syndrome | Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms). |
| Houge-Janssens syndrome | |
| Luscan-Lumish syndrome | |
| A20 haploinsufficiency | |
| Poly | |
| Hamartoma of hypothalamus | |
| Abnormal corpus callosum morphology | any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres |
| Intraventricular hemorrhage | bleeding into the brain ventricles |
| Brain small vessel disease | |
| Intracranial hemorrhage | Hemorrhage occurring within the skull. |
| Cerebral calcification | The presence of calcium deposition within brain structures. |
| Turcot syndrome | |
| Sideroblastic Anemia and Ataxia | |
| Severe X-linked mitochondrial encephalomyopathy | |
| Unspecified heart condition | |
| X-linked parkinsonism-spasticity syndrome | |
| Methylmalonic acidemia due to transcobalamin receptor defect | |
| Oculodentodigital dysplasia | NT MGI. |
| Spastic diplegia | A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| Gordon syndrome | |
| Marden-Walker syndrome | Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | |
| Hereditary Sideroblastic Anemia | |
| Infantile liver failure syndrome | |
| Left-right axis malformations | |
| Hypergonadotropic hypogonadism | |
| Lipoic acid synthetase deficiency | |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | |
| Chromosome 2p16.3 deletion syndrome | |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | |
| Mitochondrial DNA depletion syndrome 16 | |
| Mitochondrial dna depletion syndrome 16B | |
| Neutrophil immunodeficiency syndrome | Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. |
| Immunodeficiency 73b | |
| Immunodeficiency 73c | |
| Hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | |
| Primrose syndrome | |
| Testicular anomalies | |
| Structural congenital heart disease | |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | |
| Ogden syndrome | An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. |
| Severe combined immunodeficiency due to CTPS1 deficiency | |
| Alanine glyoxylate aminotransferase deficiency | |
| Polyglucosan body myopathy | |
| Autosomal dominant mitochondrial myopathy | |
| Undetermined early-onset epileptic encephalopathy | |
| RIDDLE syndrome | |
| BRIP1-associated familial cancer predisposition | |
| Rectum adenocarcinoma | A rectum cancer that derives_from epithelial cells of glandular origin. |
| Chromosome 17q11.2 deletion syndrome | |
| Childhood neoplasm | |
| BMPR1A-Related Polyposis Syndrome | |
| Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain | |
| Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 | |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | |
| Steel syndrome | |
| Loss of ambulation | |
| Smith-Magenis Syndrome-like | |
| Attention deficit hyperactivity disorder | A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV) |
| Absent speech | Complete lack of development of speech and language abilities. |
| Irregular respiration | |
| STING-associated vasculopathy | |
| Intellectual disability-epilepsy-extrapyramidal syndrome | |
| Lipase deficiency | |
| HNRNPDL-related myopathy | |
| Acromelic frontonasal dysostosis | |
| Tibia | The shin bone: the inner and larger bone of the leg below the knee; it articulates with the femur and head of the fibula above and with the talus below. |
| Autosomal dominant slowed nerve conduction velocity | |
| Bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| Stereotypic movement disorder | A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. |
| Vascular dementia | A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. |
| Van Maldergem syndrome | |
| Glomerular sclerosis | |
| Analbuminemia | |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | |
| Sporadic abdominal aortic aneurysm | |
| Glioblastoma multiforme | The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)|Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. |
| Metaphyseal chondromatosis | |
| Keratoacanthoma | |
| Diffuse gastric and lobular breast cancer syndrome | |
| Non-obstructive azoospermia | Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy. |
| Psychomotor retardation | |
| Severe underweight in infancy childhood and adolescence | |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| CEBALID syndrome | |
| Methotrexate response - Efficacy | |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | |
| Neonatal hypoglycemia | |
| Monocarboxylate transporter 1 deficiency | |
| Malformation of the heart and great vessels | |
| Pseudo-TORCH syndrome | No OMIM mapping, confirmed by DO. [SN]. |
| Mungan syndrome | |
| Autosomal dominant Robinow syndrome | |
| Goldberg-Shprintzen syndrome | |
| Wiedemann-Steiner syndrome | |
| Abnormality of neuronal migration | An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. |
| Decreased head circumference | |
| Infantile osteopetrosis | |
| Child syndrome | CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
| CK syndrome | |
| Decreased activity of the pyruvate dehydrogenase complex | |
| Salivary gland neoplasm | A tumor (abnormal growth of tissue) of a salivary gland. |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | |
| Abnormal earlobe morphology | |
| Depressed nasal bridge | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| Meconium ileus | Obstruction of the intestine due to abnormally thick meconium. |
| Polymorphic ventricular tachycardia | |
| Skin fragility-woolly hair-palmoplantar keratoderma syndrome | |
| Haemorrhagic telangiectasia | |
| Abnormality of the cardiovascular system | Any abnormality of the cardiovascular system. |
| Malignant hyperthermia and exertional rhabdomyolosis | |
| Malignant hyperthermia equivocal | |
| Axial myopathy | |
| Cerebellar-facial-dental syndrome | |
| Familial renal glucosuria | |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | |
| Gamma-aminobutyric acid transaminase deficiency | |
| Hypotrichosis-lymphedema-telangiectasia syndrome | |
| Absent or delayed speech development | |
| Feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| DYRK1A-related intellectual disability syndrome | |
| Generalized-onset seizure | |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | |
| Hematologic neoplasm | |
| Microcephaly and chorioretinopathy | |
| Hutchinson-Gilford progeria syndrome | |
| Catel-Manzke syndrome | Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis. |
| Ayme-Gripp syndrome | |
| Temple-Baraitser syndrome | |
| Zimmermann-Laband syndrome | Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. |
| Deficiency of transaldolase | |
| Chronic atrial and intestinal dysrhythmia | |
| Conduction disorder of the heart | |
| Central hypoventilation syndrome | |
| Pulmonary Surfactant Metabolism Dysfunction | |
| MYBPC3-related cardiomyopathies | |
| Malignant germ cell tumor of ovary | |
| Connective tissue dysplasia | |
| TNNI3-associated disorder | |
| Deafness-infertility syndrome | |
| Neoplasm of the large intestine | The presence of a neoplasm of the large intestine. |
| Childhood ganglioglioma | |
| Abnormal intrahepatic bile duct morphology | any structural anomaly of the passages within the liver for the conveyance of bile |
| Guanidinoacetate methyltransferase | |
| Aland island eye disease | |
| Ocular impairment | |
| Hypoplasia of the iris | Congenital underdevelopment of the iris. |
| PITX2-Related Eye Abnormalities | |
| Recessive mitochondrial ataxia syndrome | |
| Congenital Indifference to Pain | |
| Sacral defect | |
| Migalastat response | |
| Lower motor neuron syndrome | |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| Arterial dissection | A separation (dissection) of the layers of an artery. |
| Diastolic dysfunction | |
| Subvalvular aortic stenosis | |
| Trifascicular block on electrocardiogram | |
| Isolated neonatal sclerosing cholangitis | |
| Ventriculomegaly-cystic kidney disease | |
| Fragile site 11b | |
| KA-like vemurafenib-induced squamous lesions | |
| Astrocytic tumor | |
| MYH7-related cardiomyopathy | |
| Pancreatic cysts | A cyst of the pancreas that possess a lining of mucous epithelium. |
| Retinal capillary hemangioma | |
| Spinal hemangioblastoma | A 'hemangioblastoma of the spinal cord. |
| Cerebellar hemangioblastoma | A 'hemangioblastoma of the cerebellum. |
| Malignant tumor of testis | |
| Neurodegenerative illness progressing to crippling dystonia and death | |
| Brain atrophy | Partial or complete wasting (loss) of brain tissue that was once present. |
| CNS hypomyelination | Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. |
| Hypoplasia of the corpus callosum | Underdevelopment of the corpus callosum. |
| Light complexion | |
| Early onset focal segmental glomerulosclerosis | |
| Hypohidrosis | |
| Fatal multiple mitochondrial dysfunctions syndrome | |
| Esophageal squamous cell carcinoma | A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor. |
| Cerebellar vermis hypoplasia | Underdevelopment of the vermis of cerebellum. |
| Intellectual disability-strabismus syndrome | |
| Tenorio syndrome | |
| Cerebro-costo-mandibular syndrome | |
| Malignant tumor of thyroid gland | |
| Attenuated familial adenomatous polyposis | |
| Glioma | |
| Mediastinal germ cell tumor | |
| Acute megakaryoblastic leukemia | |
| Astrocytoma IDH-mutant | |
| Generalized hypopigmentation | |
| Neurofibromatosis due to NF1 mutation or intragenic deletion | |
| Abnormal lymph node morphology | any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched |
| Cervical lymphadenopathy | |
| Ewing sarcoma | A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004|A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.|A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)|A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. |
| Subcutaneous neurofibroma | |
| Lisch nodules | The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. |
| Malignant neoplasm of brain | |
| Decreased total neutrophil count | |
| Mirror movements | |
| Corpus callosum | The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans. |
| Congenital contractures of the limbs and face | |
| Concentric hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. |
| Ventricular hypertrophy | Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. |
| CNGB3-related retinopathy | |
| Hyperhomocysteinemia | An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. |
| Stuve-Wiedemann syndrome | |
| SGCG-related congenital myopathy | |
| Nongoitrous Euthyroid Hyperthyrotropinemia | |
| PURA Syndrome | |
| Cole-Carpenter syndrome | |
| Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | |
| PTEN hamartoma tumor syndromes | |
| Lipoyl transferase 1 deficiency | |
| SCN1A Seizure Disorders | |
| Prader-Willi-like syndrome | |
| Autosomal recessive chorioretinopathy-microcephaly syndrome | |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | |
| Cockayne spectrum | |
| Quebec platelet disorder | Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. |
| Hogue-Janssens syndrome | |
| Linear skin defects | |
| Histiocytoid cardiomyopathy | |
| PPP2R1A-related neurodevelopmental disorders | |
| Spinocerebellar atrophy | Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | |
| Stromme syndrome | |
| Bilateral ptosis | |
| Respiratory insufficiency | Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide. |
| Stridor | Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. |
| Disorder of eye | |
| Bartsocas-Papas syndrome | |
| Bile acid conjugation defect | |
| Early onset epileptic encephalopathy | |
| X-linked retinitis pigmentosa | |
| Congenital hypotonia | |
| Isolated focal non-epidermolytic palmoplantar keratoderma | |
| Olmsted syndrome | |
| Congenital nongoitrous hypothyroidism | |
| Combined immunodeficiency due to ORAI1 deficiency | |
| PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease | |
| Hypomagnesemia | An abnormally decreased magnesium concentration in the blood. |
| Rabson-Mendenhall syndrome | |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | |
| Leprechaunism syndrome | |
| Hypopigmentation | |
| Porencephalic cyst | |
| Peroxisome biogenesis disorder 11A | |
| Bone Paget disease | |
| Paget disease of bone | |
| Panhypopituitarism | |
| Cataract 34 multiple | |
| Non-acquired combined pituitary hormone deficiency | |
| TMEM165-congenital disorder of glycosylation | |
| Prader-Willi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | |
| Isolated cryptophthalmia | |
| Hyperinsulinism due to INSR deficiency | |
| Lethal Kniest-like syndrome | |
| Schwartz-Jampel syndrome | |
| Lethal osteosclerotic bone dysplasia | |
| Ghosal hematodiaphyseal dysplasia | |
| Growth delay | A deficiency or slowing down of growth pre- and postnatally. |
| Non-syndromic X-linked intellectual disability | A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. |
| Growth hormone insensitivity | |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | |
| Decreased response to growth hormone stimulation test | |
| Oculootoradial syndrome | |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | |
| Craniofacial-deafness-hand syndrome | |
| Autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| Alpha-N-acetylgalactosaminidase deficiency | |
| Hyperphosphatasemia | |
| Cataract 11 multiple | |
| Asperger syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| Focal impaired awareness seizure | |
| Cleft Lip +/- Cleft Palate | |
| Duchenne and Becker muscular dystrophy | |
| Autistic behavior | |
| Immunodeficiency due to CD25 deficiency | |
| FIGLA-related condition | |
| Schneckenbecken dysplasia | |
| Combined Pituitary Hormone Deficiency | disease cluster belonging to disease group metabolic |
| Ulnar-mammary syndrome | |
| Generalized myoclonic seizure | |
| Acheiropodia | |
| Laurin-Sandrow syndrome | |
| Triphalangeal thumb-polysyndactyly syndrome | |
| X-linked scapuloperoneal muscular dystrophy | |
| Uruguay Faciocardiomusculoskeletal syndrome | |
| UPF3B-associated intellectual disability | |
| Malan overgrowth syndrome | |
| Nephronophthisis-like nephropathy | |
| Autoimmune interstitial lung disease-arthritis syndrome | |
| DSP-related cardiomyopathy | |
| Aortic dilatation | |
| Waddling gait | |
| Proximal lower limb amyotrophy | Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. |
| Decreased patellar reflex | Decreased intensity of the patellar reflex (also known as the knee jerk reflex). |
| Rimmed vacuoles | Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. |
| Limb-girdle muscle atrophy | Muscular atrophy affecting the muscles of the limb girdle. |
| Mitral valve prolapse | A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. |
| Third degree atrioventricular block | |
| Autosomal dominant titinopathy | |
| Intellectual disability and seizures | |
| Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | |
| Diffuse interstitial pulmonary fibrosis | |
| Autosomal dominant deafness - onychodystrophy syndrome | |
| Syndromic complex neurodevelopmental disorder | |
| Mitochondrial proton-transporting ATP synthase complex deficiency | |
| KIAA0586- Related disorders | |
| Intellectual deficiency | |
| Epilepsy of infancy | |
| SCN2A-related generalized epilepsy | |
| Lennox-Gastaut syndrome | |
| 5q14.3 microdeletion syndrome | |
| Severe neurodevelopmental delay | |
| KCNQ3-related developmental disability | |
| KCNQ3-related Autism and developmental disability | |
| Familial sleep-related hypermotor epilepsy | |
| Moderate global developmental delay | A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. |
| STXBP1-associated neurodevelopmental disorder | |
| Childhood myocerebrohepatopathy spectrum | |
| Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Autosomal recessive progressive external ophthalmoplegia | |
| Limb dystonia | A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. |
| Difficulty standing | |
| Progressive neurologic deterioration | |
| PCDH19-related epilepsy syndrome | |
| Speech apraxia | A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. |
| X-linked intellectual disability-hypotonia-movement disorder syndrome | |
| Ablepharon macrostomia syndrome | |
| Familial expansile osteolysis | |
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | |
| Peeling skin syndrome | NT MGI. |
| Cryptorchidism | Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. |
| Transient ischemic attack | Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6) |
| Arthrogryposis syndrome | |
| Hypokalemia | |
| Hypermagnesemia | An abnormally increased magnesium concentration in the blood. |
| Inherited renal tubular disease | |
| Neurodevelopmental Disability | |
| Postnatal growth retardation | Slow or limited growth after birth. |
| Abnormality of the immune system | An abnormality of the immune system. |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | |
| SATB2 associated disorder | |
| Oculocerebrofacial syndrome | |
| Microangiopathy and leukoencephalopathy | |
| GNAO1-related developmental delay-seizures-movement disorder spectrum | |
| KBG syndrome | A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. |
| Unilateral Hypotonia | |
| Acute rhabdomyolysis | An acute form of rhabdomyolysis. |
| Episodic flaccid weakness | Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
| Autosomal recessive AGK-related phenotype | |
| Juvenile amyotrophic lateral sclerosis | |
| Progressive bulbar palsy of childhood | |
| CHAMP1-related syndrome | |
| Gingival fibromatosis | The presence of fibrosis of the gingiva. |
| DDX41-related hematologic malignancy predisposition syndrome | |
| TUBB2A-related tubulinopathy | |
| Autosomal dominant hereditary axonal motor and sensory neuropathy | |
| MATURITY-ONSET DIABETES OF THE YO | |
| SMARCA4-related BAFopathy | |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | |
| RIN2 syndrome | |
| Benign Rolandic epilepsy | |
| Abnormal cortical gyration | An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. |
| X-linked cerebral-cerebellar-coloboma syndrome syndrome | |
| Syndromic X-linked intellectual disability Siderius | |
| Pulmonary arterial hypertension associated | |
| Brain aneurysm | |
| Parkes Weber syndrome | |
| Williams syndrome | |
| Epistaxis | Bleeding from the nose. |
| Bicuspid aortic valve | The presence of an aortic valve with two instead of the normal three cusps (flaps). |
| MED12-related intellectual disability syndrome | |
| Cutaneous leiomyoma | The presence of leiomyoma of the skin. |
| Thiamine Metabolism Dysfunction Syndrome | |
| Mitochondrial DNA depletion syndrome 12A | |
| Hereditary myopathy | |
| Abnormality of the mitochondrion | An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. |
| Lens luxation | Complete dislocation of the lens of the eye. |
| Ganglioglioma | |
| Autosomal recessive complex spastic paraplegia | |
| Autosomal dominant spastic paraplegia | |
| De Barsy syndrome | |
| ALDH18A1 deficiency | |
| Dextrocardia | |
| ALDH18A1-related de Barsy syndrome | |
| Nonsyndromic otitis media | |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | |
| Zonular Pulverulent Cataract | disease cluster belonging to disease group vision |
| Chromosome 1q21.1 deletion syndrome | |
| Persistent hyperplastic primary vitreous | NT MGI. |
| Hypouricemia | An abnormally low level of uric acid in the blood. |
| Jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| Cystic renal dysplasia | |
| Occipital encephalocele | A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. |
| Limb undergrowth | Limb shortening because of underdevelopment of one or more bones of the extremities. |
| Rotary nystagmus | A form of nystagmus in which the eyeball makes rotary motions around the axis. |
| Paroxysmal familial ventricular fibrillation | |
| Langereis blood group | |
| Juvenile primary lateral sclerosis | Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. |
| Progressive encephalopathy | |
| Familial pseudohyperkalemia | |
| MC4R POLYMORPH | |
| OBES | |
| Hereditary sensorimotor neuropathy | |
| Recurrent infections | Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. |
| Khan-Khan-Katsanis syndrome | |
| Cleft lip/palate-ectodermal dysplasia syndrome | |
| Carboxymethyl-dextran-A2-gadolinium-D | |
| Autosomal dominant keratitis | |
| Congenital aniridia | |
| Congenital microvillous atrophy | |
| SLC39A8- | |
| Nonsyndromic hypergonadotropic hypogonadism | |
| Skin creases | |
| Radioulnar synostosis | OMIM mapping confirmed by DO. [SN]. |
| MECOM-associated syndrome | |
| Congenital disorders of glycosylation | |
| TMEM199- | |
| CCDC115- | |
| Myelodysplastic syndrome progressed to acute myeloid leukemia | |
| DeSanto-Shinawi syndrome due to WAC point mutation | |
| Metabolic crises | |
| SLC25A42-related mitochondrial disorder | |
| GARS-Associated Axonal Neuropathy | |
| Intrauterine growth retardation | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| POLE-related polyposis and colorectal cancer syndrome | |
| Thoracic scoliosis | |
| BAP1 Cancer Syndrome | |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
| Inherited bone marrow failure syndrome | |
| Bone marrow failure syndrome | |
| Heart disease | A cardiovascular system disease that involves the heart. |
| First degree atrioventricular block | |
| Monoclonal B-Cell Lymphocytosis | |
| Exercise intolerance | |
| Fetal growth restriction | |
| Abnormal brainstem MRI signal intensity | |
| Delayed fine motor development | |
| Hypoplasia of the frontal lobes | Underdevelopment of the frontal lobe of the cerebrum. |
| Focal cortical dysplasia | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | |
| Pedal edema | |
| Downslanted palpebral fissures | The palpebral fissure inclination is more than two standard deviations below the mean. |
| Spasticity-ataxia-gait anomalies syndrome | |
| Autosomal dominant familial hypercholesterolemia | |
| Exudative retinopathy | |
| RCBTB1-related retinopathy | |
| Myelodysplasia | |
| Bone marrow hypocellularity | A reduced number of hematopoietic cells present in the bone marrow. |
| Floppy infant | |
| Okur-Chung neurodevelopmental syndrome | |
| Cerebral visual impairment and intellectual disability | |
| NEURODEVELOPMENTAL DISOR | |
| Anadysplasia-like | |
| RHIZOMELIC SKELETAL DYSPLA | |
| Reynolds syndrome | Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms). |
| Cardiac malformation | |
| X-linked reticulate pigmentary disorder | |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | |
| Progressive cerebellar ataxia | |
| Abnormal cerebral white matter morphology | |
| Optic neuropathy | |
| LEUKOENCEPHALOPA | |
| Periventricular nodular heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| Chromosome 5Q14.3 deletion syndrome | |
| Thiopurines | |
| Azathioprine response - Toxicity | |
| Mercaptopurine response - Dosage | |
| Epsilon-trimethyllysine hydroxylase deficiency | |
| Syndromic Infantile Encephalopathy | |
| High molecular weight kininogen deficiency | |
| Bone fragility | |
| Winchester syndrome | |
| Striatal degeneration | |
| Harel-Yoon syndrome | |
| Hoyeraal-Hreidarsson syndrome | Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. |
| Chronic osteomyelitis | |
| Pierpont syndrome | |
| Pineoblastoma | A pineal gland neoplasm located_in the brain. |
| Salmeterol response - Efficacy | |
| Etanercept response - Efficacy | |
| Inherited susceptibility to asthma | |
| Endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| HUMAN IMMUNODEFICIENCY VIRUS DEMEN | |
| Pravastatin response - Efficacy | |
| MDR1 POLYMORPH | |
| Peginterferon alfa-2a | |
| Boceprevir | |
| Interferons | |
| Nevirapine response - Toxicity | |
| Platinum compounds response - Efficacy | |
| Clopidogrel response - Efficacy | |
| Clopidogrel response - Metabolism/ | |
| GNB3 POLYMORPH | |
| GNB3-related condition | |
| SPAST-related spastic paraplegia | |
| CAP-congenital myopathy | |
| PERCHING syndrome | |
| Myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| Autosomal recessive spastic ataxia | |
| Alveolar capillary dysplasia | |
| CBS POLYMORPH | |
| PCWH syndrome | |
| Dyssynergia | |
| B Lymphoblastic Leukemia/Lymphoma | |
| BCR-A | |
| Polyp of colon | |
| Polydactyly-macrocephaly syndrome | |
| Neurofibrmatosis | |
| Heritable Thoracic Aortic disease | |
| Early age onset of sporadic thoracic aortic dissections | |
| Retinitis pigmentosa and erythrocytic microcytosis | |
| Semilobar holoprosencephaly | A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. |
| Situs inversus | OMIM mapping confirmed by DO. [LS]. |
| Antenatal Bartter syndrome | |
| Brachyolmia-amelogenesis imperfecta syndrome | |
| BBS9-related ciliopathy | |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLA | |
| Prednisolone response | |
| TELO2-related intellectual disability-neurodevelopmental disorder | |
| Perlman syndrome | |
| Papillary carcinoma of the corpus uteri | |
| Hypocalcemia | An abnormally decreased calcium concentration in the blood. |
| Regorafenib response | |
| Hereditary breast cancer | |
| TERT-associated disorder | |
| B-lymphoblastic leukemia/lymphoma | |
| Ciliary dyskinesia | A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. |
| PRKAG2 cardiac syndrome | |
| Diffuse hemispheric glioma | |
| Pediatric high-grade glioma | |
| Conotruncal heart malformations | |
| Peripheral schwannoma | The presence of a peripheral schwannoma. |
| Schwannoma | A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported.|A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.|A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)|A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH). |
| Continuous spike and waves during slow sleep | |
| Transketolase deficiency | |
| Congenital sensory neuropathy | |
| Testicular atrophy | Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. |
| DYNC1H1-related neurodevelopmental disorders | |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | |
| D-Glyceric aciduria | |
| Decreased total lymphocyte count | |
| Hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| Saccharopinuria | |
| Warsaw breakage syndrome | |
| DDX11-related condition | |
| ZTTK syndrome | |
| Open-angle glaucoma | A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment | |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | |
| Oromandibular-limb hypogenesis spectrum | |
| Obesity due to SIM1 deficiency | |
| Isolated Noncompaction of the Ventricular Myocardium | |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | |
| Familial breast and ovarian cancer | |
| Intervertebral disc disorder | |
| Familial hemolytic anemia | |
| Peroxisome biogenesis disorder 12A | |
| Cataract 6 multiple | |
| Warburg-cinotti syndrome | |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| Acute Recurrent Myoglobinuria | |
| APOB POLYMORPHISM IN SIGNAL PEPT | |
| Autosomal dominant pseudohypoaldosteronism | |
| Hypothalamic hypothyroidism | A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. |
| Huppke-Brendel syndrome | |
| Gray platelet syndrome | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
| Denticles | |
| Parietal foramina | NT MGI. |
| Cranium bifidum occultum | |
| Nephrolithiasis/osteoporosis | |
| Cataract 13 with adult I phenotype | |
| Retinal disorders | |
| Peroxisome biogenesis disorder 10A | |
| Angiokeratoma corporis diffusum | |
| Three Vessel Coronary disease | |
| Hemolytic anemia due to hexokinase deficiency | |
| Hypoinsulinemia | |
| Hereditary factor X deficiency disease | |
| Johanson-Blizzard syndrome | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. |
| Cataract 5 multiple | |
| Cataract 21 multiple | |
| CIC-rearranged sarcoma | |
| Coxopodopatellar syndrome | |
| Autosomal recessive amelia | |
| Arrhinia | |
| Cerebral small vessel disease | |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| Methamphetamine use disorder | |
| Congenital nuclear cataract | A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear. |
| Cataract 22 multiple | |
| Fundus dystrophy | |
| X-linked lymphoproliferative disease due to XIAP deficiency | |
| Cardiospondylocarpofacial syndrome | |
| Craniofacial dysmorphism | |
| Low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| Abnormality of the neck | An abnormality of the neck. |
| Dysphagia | Difficulty in swallowing. |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | |
| Abnormal lung growth | |
| Neonatal seizure | |
| Intractable seizure | |
| Hereditary cavernous hemangioma of brain | |
| Hereditary syndromic Pierre Robin syndrome | |
| Difficulty walking | Reduced ability to walk (ambulate). |
| Falls | |
| Hip flexor weakness | |
| Qualitative or quantitative defects of collagen | |
| Infantile encephalopathy | Encephalopathy with onset in the infantile period. |
| Ulnar/fibula ray defect-brachydactyly syndrome | |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | |
| Severe combined immunodeficiency due to CARMIL2 deficiency | |
| Retinal vascular dystrophy | |
| Sifrim-Hitz-Weiss syndrome | |
| Juvenile onset psychosis | |
| Lung damage | |
| Expressive language delay | A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. |
| Isolated Pierre-Robin syndrome | |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| GATAD2B-related intellectual disability syndrome | |
| Loricrin keratoderma | |
| Alveolar rhabdomyosarcoma | A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease | |
| Pes valgus | an outward deviation of the foot at the talocalcaneal or subtalar joint |
| Malignant migrating partial seizures of infancy | |
| Lung carcinoid tumor | |
| Proliferative vitreoretinopathy | |
| Desmoplastic/nodular medulloblastoma | |
| Perisylvian polymicrogyria | |
| Behcet disease | |
| Chondrodysplasia Blomstrand | |
| Chromosome 2q37 deletion syndrome | |
| Temtamy preaxial brachydactyly syndrome | An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. |
| Refractory anemia | |
| Retinal arterial tortuosity | |
| Autosomal recessive omodysplasia | |
| Abnormal electroretinogram | Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. |
| Osteochondritis dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| Polydactyly of a triphalangeal thumb | |
| Dermatofibrosis lenticularis disseminata | |
| KIF1A related neurological disorder | |
| Glioblastoma | |
| Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan | |
| Kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| MEGF8-related Carpenter syndrome | |
| Brachydactyly-elbow wrist dysplasia syndrome | |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | |
| Proximal muscle weakness in lower limbs | A lack of strength of the proximal muscles of the legs. |
| Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Pelviscapular dysplasia | |
| Growth delay due to insulin-like growth factor deficiency | |
| Eiken syndrome | |
| Alagille syndrome | A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. |
| OTX2-Related Syndromic Microphthalmia | |
| Syndromic microphthalmia | |
| Immunodeficiency due to MASP-2 deficiency | |
| Schnyder crystalline corneal dystrophy | |
| Age-related cortical cataract | |
| Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| Apolipoprotein A-II deficiency | |
| Isolated Hyperparathyroidism | |
| Hypermanganesemia | |
| Regressive spondylometaphyseal dysplasia | |
| Thrombotic microangiopathy | |
| Familial erythrocytosis | |
| Susceptibility to severe COVID- | |
| Gelatinous droplike corneal dystrophy | |
| Sterile multifocal osteomyelitis | |
| Lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| Congenital lactase deficiency | Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. |
| Propofol response | |
| DSD incomplete virilization | |
| Congenital vertical talus | |
| Nonimmune chronic idiopathic neutropenia of adults | |
| Duane retraction syndrome | OMIM mapping confirmed by DO. [SN]. |
| Fleck corneal dystrophy | Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. |
| Multiple congenital anomalies/dysmorphic syndrome | |
| Febrile seizure | |
| Selective tooth agenesis | |
| Hearing loss and Retinal dystrophy | |
| Essential fructosuria | |
| ALS2-related motor neuron disease | |
| Sorafenib response - Toxicity | |
| Luteinizing hormone/choriogonadotropin receptor | |
| Deficiency of ribose-5-phosphate isomerase | |
| Acrocapitofemoral dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Familial benign pemphigus | |
| C syndrome | C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. |
| Globozoospermia | Any structural anomaly of the acrosome resulting in a round sperm head. |
| Triglyceride storage disease | |
| Deficiency of hyaluronoglucosaminidase | |
| Hereditary renal cell carcinoma | |
| Pseudohyperaldosteronism | |
| BH4-Deficient Hyperphenylalaninemia | |
| Amegakaryocytic thrombocytopenia | Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. |
| Autosomal recessive proximal renal tubular acidosis | |
| Craniometadiaphyseal dysplasia wormian bone | |
| Lymphoproliferative disorder | |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | |
| ANK2-related Autism | |
| X-linked intellectual disability-short stature-overweight syndrome | |
| Susceptibility to nonsyndromic otitis media | |
| Mononeuropathy of the Median Nerve | |
| 4p partial monosomy syndrome | |
| Rauch-Steindl syndrome | |
| Autosomal dominant striatal neurodegeneration | |
| Obesity due to prohormone convertase I deficiency | |
| Cystic leukoencephalopathy | |
| Obesity due to congenital leptin deficiency | |
| Juvenile-onset Parkinson disease | |
| RPS10-NUDT3-related disorder | |
| Bosley-Salih-Alorainy syndrome | |
| Bilateral microtia-deafness-cleft palate syndrome | |
| Human HOXA1 syndromes | |
| Biliary tract abnormality | |
| Fetal and neonatal alloimmune thrombocytopenia | |
| Branchiootorenal Spectrum Disorders | |
| Familial High Density Lipoprotein Deficiency | |
| Hereditary Multiple Osteochondromatosis | |
| Inherited focal segmental glomerulosclerosis | |
| Diaphyseal medullary stenosis-bone malignancy syndrome | |
| Dysequilibrium syndrome | |
| Typical absence seizure | |
| Dicarboxylic aminoaciduria | |
| PSAT deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. |
| LCA5-related retinopathy | |
| Ataxia Neuropathy Spectrum Disorders | |
| Factor VII Marburg I Variant Thrombophilia | |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | |
| Familial hypoalphalipoproteinemia | |
| Decreased HDL cholesterol concentration | |
| Adenosine kinase deficiency | |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | |
| Nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| Hartsfield-Bixler-Demyer syndrome | |
| Nestor-Guillermo progeria syndrome | |
| Pleural effusion | The presence of an excessive amount of fluid in the pleural cavity. |
| Hypertyrosinemia | |
| Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| Juvenile Polyposis | disease cluster belonging to disease group other |
| Lethal Encephalopathy | |
| Cutaneous Malignant Melanoma | disease cluster belonging to disease group cancer |
| Congenital stromal corneal dystrophy | Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| BIVM-ERCC5-related disorder | |
| Concomitant exotropia | |
| Tourette syndrome | |
| Dopa-responsive dystonia | |
| Methylmalonate semialdehyde dehydrogenase deficiency | |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | |
| KAT6B-Related Spectrum Disorders | |
| Rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| Short stature due to primary acid-labile subunit deficiency | |
| Immunodeficiency due to defect in CD3-gamma | |
| Lethal polymalformative syndrome | |
| Hyperimmunoglobulin M syndrome | |
| Symphalangism-brachydactyly syndrome | |
| Behavior disorder | |
| Omodysplasia | |
| Brachyolmia | An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. |
| NKX2-1-related disorder | |
| BMP4-Related Syndromic Microphthalmia | |
| Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | |
| PI KALSHEKER-POL | |
| Thalidomide response | |
| Familial Periodic Fever | |
| Cayman ataxia | |
| Respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. |
| C3 deficiency | |
| HNSHA due to aldolase A deficiency | |
| Periventricular laminar heterotopia | |
| Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay. |
| Phosphoenolpyruvate carboxykinase | |
| Familial Candidiasis | |
| Congenital glucose-galactose malabsorption | |
| NAF | |
| Infantile-onset X-linked spinal muscular atrophy | |
| Hereditary Neuralgic Amyotrophy | |
| Letrozole response | |
| Crohn disease | |
| Neurocirculatory asthenia | A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. |
| Lissencephaly/Subcortical Band Heterotopia | |
| Cataract 19 multiple | |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Susceptibility to Nonalcoholic Fatty Liver disease | |
| Thyroid Hormonogenesis Defect | |
| F9 POLYMORPH | |
| VEXAS syndrome | |
| Abruzzo-Erickson syndrome | |
| Disease Association | |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTO | |
| APP POLYMORPH | |
| Ocular motility disease | |
| X-linked congenital stationary night blindness | |
| Cataract 17 multiple | |
| Mullegama-Klein-Martinez syndrome | |
| X-linked nonsyndromic hearing loss | |
| Porphyria cutanea tarda | An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. |
| Keratitis ichthyosis and deafness syndrome | |
| Isolated congenital growth hormone deficiency | |
| Cortical pulverulent cataract | A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. |
| Infantile hypercalcemia | |
| Cobblestone lissencephaly | |
| Fontaine progeroid syndrome | |
| Microscopic hematuria | Microscopic hematuria detected by dipstick or microscopic examination of the urine. |
| Intermediate severe Salla disease | |
| Opsoclonus-myoclonus syndrome | Opsoclonus myoclonus syndrome (OMS) is a rare pediatric brain inflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia and behavioural and sleep disorders. |
| Combined immunodeficiency due to moesin deficiency | |
| Sudden cardiac failure | |
| Cone-rod dystrophy and hearing loss | |
| Dysmorphy | |
| MBD5 associated neurodevelopmental disorder | |
| CASR-related calcium metabolism disorders | |
| EBV-positive nodal T- and NK-cell lymphoma | |
| Increased circulating IgE concentration | |
| Erythroderma | An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. |
| Rectal prolapse | |
| Stress urinary incontinence | |
| BRAT1-associated neurodegenerative disorder | |
| CATARA | |
| SMARCB1-related BAFopathy | |
| Multiple congenital anomalies | |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | |
| Pain | An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. |
| Joint laxity | Lack of stability of a joint. |
| Vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| EMG: axonal abnormality | Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. |
| Abnormality of vision | Abnormality of eyesight (visual perception). |
| Congenital blindness | Blindness with onset at birth. |
| Retinal disorder | |
| Pain insensitivity | Inability to perceive painful stimuli. |
| Intrahepatic cholestasis | Xref MGI. |
| Abnormal liver function tests during pregnancy | |
| Pruritus | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| Brachydactyly-syndactyly syndrome | OMIM mapping confirmed by DO. [SN]. |
| Arthralgia | Joint pain. |
| Stiff skin | An induration (hardening) of the skin |
| Lower limb hyperreflexia | |
| Clonus | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| Generalized dystonia | A dystonia that affects most or all of the body. |
| Parathyroid gland adenoma | |
| Hypocalciuria | An abnormally decreased calcium concentration in the urine (FMA:12274). |
| Toe syndactyly | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as Symphalangism. |
| Finger syndactyly | Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as Symphalangism. |
| Abnormality of the thyroid gland | An abnormality of the thyroid gland. |
| Elevated systolic blood pressure | Abnormal increase in systolic blood pressure. |
| Elevated diastolic blood pressure | Abnormal increase in diastolic blood pressure. |
| Hypertrichosis | |
| Nail dysplasia | The presence of developmental dysplasia of the nail. |
| Bifid nasal tip | A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. |
| Opacification of the corneal stroma | Reduced transparency of the stroma of cornea. |
| Upslanted palpebral fissure | The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. |
| Female infertility | |
| Vascular dilatation | |
| Ascending tubular aorta aneurysm | |
| Alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| Proportionate short stature | A kind of short stature in which different regions of the body are shortened to a comparable extent. |
| Pear-shaped nose | |
| Poor speech | |
| Gait disturbance | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Hand oligodactyly | |
| Aplasia/Hypoplasia of the phalanges of the hand | Small or missing phalangeal bones of the fingers of the hand. |
| Palpitations | A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. |
| Aplasia/Hypoplasia involving the metacarpal bones | Aplasia or Hypoplasia affecting the metacarpal bones. |
| Aneurysm of descending aorta | |
| Arterial tortuosity | Abnormal tortuous (i.e., twisted) form of arteries. |
| Oculomotor apraxia | Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. |
| Conjunctival telangiectasia | The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. |
| Hammertoe | Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. |
| Progressive muscle weakness | |
| Astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| Long fingers | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| Short ribs | Reduced rib length. |
| Absent vertebral body mineralization | A lack of bone mineralization of the vertebral bodies. |
| Generalized hyperreflexia | |
| Mitral regurgitation | |
| 3-4 toe syndactyly | Syndactyly with fusion of toes three and four. |
| Moderate sensorineural hearing impairment | |
| Abnormality of the kidney | An abnormality of the kidney. |
| Multicystic kidney dysplasia | Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. |
| Dilatation of the cerebral artery | |
| Hepatic cysts | |
| Stage 5 chronic kidney disease | |
| Thumb deformity | |
| Inguinal freckling | The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Plexiform neurofibroma | |
| Blue sclerae | An abnormal bluish coloration of the sclera. |
| Cerebral hypoplasia | Underdevelopment of the cerebrum. |
| Mildly elevated creatine kinase | |
| Limb pain | Chronic pain in the limbs with no clear focal etiology. |
| Proximal amyotrophy | Amyotrophy (muscular atrophy) affecting the proximal musculature. |
| Congenital contracture | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| Hyperextensible hand joints | The ability of the joints of the hand to move beyond their normal range of motion. |
| Foot dorsiflexor weakness | Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. |
| Pes planus | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| Decreased glucosephosphate isomerase level | |
| Reduced eye contact | |
| 8q24.3 microdeletion syndrome | |
| Subependymal giant-cell astrocytoma | |
| Abnormal skeletal morphology | |
| Congenital heart defects and skeletal malformations syndrome | |
| Hemimegalencephaly | Enlargement of all or parts of one cerebral hemisphere. |
| FGFR2-related syndromic and non-syndromic craniosynostoses | |
| Uncombable hair syndrome | |
| Childhood Onset Dystonias | |
| Microcephalic primordial dwarfism | |
| Relative macrocephaly | A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. |
| Hypertelorism and tetralogy of fallot | |
| Functional motor deficit | |
| Grange syndrome | |
| Captopril response - Efficacy | |
| Risk of requirement of invasive mechanical ventilation in patients | |
| Ribavirin response - Efficacy | |
| Peginterferon alfa-2a response - Efficacy | |
| Peginterferon alfa-2b response - Efficacy | |
| Dysmorphic features | |
| Clonal Cytopenia of Undetermined Significance | |
| Extracranial arteriovenous malformation | |
| Abnormal platelet function | Any anomaly in the function of thrombocytes. |
| Megalencephaly | Enlargement of all or parts of the cerebral hemispheres. |
| Diaphragmatic eventration | |
| Abnormality of the hairline | The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. |
| Intestinal duplication | |
| Hemolytic anemia due to adenylate kinase deficiency | |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| Al-Raqad syndrome | |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| Shashi-Pena syndrome | |
| DPM3-congenital disorder of glycosylation | |
| Familial idiopathic hypercalciuria | |
| PTPRC POLYMORPH | |
| ACTA1 gene related myopathy | |
| Hypomyelination | |
| Unclassified developmental and epileptic encephalopathy | |
| Encephalopathy due to defective mitochondrial and peroxisomal fission | |
| STT3B-congenital disorder of glycosylation | |
| Rabin-Pappas syndrome | |
| SETD2 associated neurodevelopmental disorder | |
| Renal dysplasia | Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. |
| 15q11q13 microduplication syndrome | |
| STT3A-congenital disorder of glycosylation | |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | |
| RAD51D-related cancer predisposition | |
| Severe combined immunodeficiency due to CORO1A deficiency | |
| TUBA1A-associated tubulinopathy | |
| Mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| Lattice retinal degeneration | |
| Retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| Rib fusion | Complete or partial merging of adjacent ribs. |
| Hemivertebrae | Absence of one half of the vertebral body. |
| LIPE-related familial partial lipodystrophy | |
| Rhombencephalosynapsis | |
| Shukla-Vernon syndrome | |
| ZC4H2-related X-linked intellectual disability | |
| Uterine leiomyoma | |
| Psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| Mutism | A speech disorder that involves a complete inability to speak. |
| Striatonigral degeneration | OMIM mapping confirmed by DO. [LS]. |
| Idiopathic scoliosis | |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | |
| Combined immunodeficiency due to OX40 deficiency | |
| Hyperchloremia | An abnormally increased chloride concentration in the blood. |
| Nuclear pulverulent cataract | |
| Susceptibility to respiratory infections associated | |
| Familial isolated congenital asplenia | |
| PULMONARY ALVEOLAR MICROLITHIA | |
| IL21-related infantile inflammatory bowel disease | |
| Lipoprotein | Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes. |
| Severe combined immunodeficiency due to IKK2 deficiency | |
| Immunodeficiency 15a | |
| Sandestig-stefanova syndrome | |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | |
| Poikiloderma | Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. |
| Gingival disorder | |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
| TSPEAR-related disorder of tooth and hair follicle morphogenesis | |
| Vertebral | |
| Congenital NAD deficiency disorder | |
| Impaired temperature sensation | A reduced ability to discriminate between different temperatures. |
| Hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| Papillary tumor of the pineal region | |
| BSCL2-related Developmental and epileptic encephalopathy | |
| Beckwith-Wiedemann syndrome due to CDKN1C mutation | |
| Primary progressive multiple sclerosis | |
| Childhood kidney cell carcinoma | |
| High-grade astrocytoma | |
| Cerebral cortical atrophy | Atrophy of the cortex of the cerebrum. |
| MYOM1-related non-immune fetal hydrops | |
| Adenomatous polyp of colon | |
| Aggressive systemic mastocytosis | |
| TRIT1 Deficiency | |
| Lopes-Maciel-Rodan syndrome | |
| Huntington disease | |
| Immunoskeletal dysplasia | |
| Inherited bleeding disorder | |
| Autosomal dominant ichthyosis vulgaris | |
| Myopathy due to calsequestrin and SERCA1 protein overload | |
| Chromosome 1p32-p31 deletion syndrome | |
| Brain malformations | |
| Activated PI3K-delta syndrome | |
| Brachydactyly syndrome | |
| Infantile epileptic dyskinetic encephalopathy | |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | |
| EYS-related retinopathy | |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | |
| Long telomere syndrome | |
| Myoclonus-dystonia syndrome | Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. |
| FAR1-related neurodevelopmental disorder | |
| WT1-related Wilms tumor | |
| Micrognathia | Developmental hypoplasia of the mandible. |
| Factor VII Padua | |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | |
| Juvenile neuronal ceroid lipofuscinosis | |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | |
| Ovarian Cancers | |
| Snijders Blok-Campeau syndrome | |
| Mannosidosis | |
| Bulbar palsy | Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. |
| Recurrent respiratory infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Cerebral arterial disease | |
| Noonan Syndrome-like developmental disorder | |
| Spastic hemiparesis | |
| Progressive spasticity | Spasticity that increases in degree with time. |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | |
| Structural heart defects and renal anomalies syndrome | |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | |
| Poirier-Bienvenu neurodevelopmental syndrome | |
| Gastrostomy tube feeding in infancy | |
| Decreased activity of mitochondrial complex | |
| Decreased circulating alkaline phosphatase activity | |
| Stankiewicz-Isidor syndrome | |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| ARMC9-related Joubert syndrome | |
| Axial spondylometaphyseal dysplasia | |
| Rahman syndrome | |
| Al-Gazali syndrome | |
| PINK1-Related Parkinsonism | |
| Lenz-Majewski hyperostosis syndrome | |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | |
| Wide mouth | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| Wide nasal bridge | Increased breadth of the nasal bridge (and with it, the nasal root). |
| Brain malformation | |
| Familial hematuria | |
| ACTL6B-related dominant intellectual disability | |
| ACTL6B-related BAFopathy | |
| Progressive childhood encephalopathy | |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | |
| Congenital nonprogressive myopathy | |
| Carey-Fineman-Ziter syndrome | |
| KINSSHIP syndrome | |
| Isolated anophthalmia-microphthalmia syndrome | |
| Caused by mutation in the tafazzin gene | |
| Microcephaly-micromelia syndrome | |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | |
| SYT1-associated neurodevelopmental disorder | |
| Atypical cerebral palsy | |
| ZSWIM6 related intellectual disability | |
| Congenital bilateral perisylvian syndrome | |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | |
| 46 XX gonadal dysgenesis | |
| ACTB Haploinsufficiency syndrome | |
| Kabuki-like syndrome | |
| MELAS syndrome | OMIM mapping confirmed by DO. [SN]. |
| Wilson-Turner syndrome | |
| SCN9A-related neuropathic pain syndromes | |
| Pituitary hypothyroidism | A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. |
| Hereditary neutrophilia | |
| DIABETES MELLI | |
| Currarino triad | |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | |
| Autosomal dominant hyperinsulinism due to SUR1 deficiency | |
| Familial Interstitial Pneumonia | |
| Hyperinsulinism due to HNF4A deficiency | |
| Castleman-Kojima disease | |
| Hip dysplasia | The presence of developmental dysplasia of the hip. |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | |
| UBTF E210K Neuroregression Syndrome | |
| Childhood-onset motor and cognitive regression syndrome | |
| Infantile or childhood onset neurodegenerative disease | |
| Rare syndromic intellectual disability | |
| Autosomal dominant retinitis pigmentosa | |
| Heyn-Sproul-Jackson syndrome | |
| Moderate albuminuria | |
| Macroscopic hematuria | |
| HEMOGLOBIN H HYDROPS FETALIS SYNDR | |
| Partial lipodystrophy | |
| Hemolytic anemia due to glutathione reductase deficiency | |
| Transcobalamin I deficiency | |
| Ambiguous genitalia | A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. |
| Multiple joint contractures | |
| Al Kaissi syndrome | |
| Methylmalonic aciduria of the cblA complementation | |
| Diencephalic-mesencephalic junction dysplasia syndrome | |
| Neurooculocardiogenitourinary syndrome | |
| Periodic fever syndrome | |
| Auditory neuropathy-optic atrophy syndrome | |
| Oocyte maturation defect | |
| Isolated macular dystrophy | |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | |
| AICA-ribosiduria | |
| Oculomaxillofacial dysostosis | |
| Teebi hypertelorism syndrome | |
| Juvenile onset Parkinson disease | |
| KNOPS BLOOD GROUP SYS | |
| Combined immunodeficiency due to MALT1 deficiency | |
| POLR3A-related neurological disorders | |
| X-linked ichthyosis | OMIM mapping confirmed by DO. [LS]. |
| SPECC1L-related syndrome | |
| Early-onset Lafora body disease | |
| Clark-Baraitser syndrome | |
| Hyperuricemic nephropathy | |
| North Carolina macular dystrophy | |
| Iris coloboma | A coloboma of the iris. |
| Neuroocular syndrome | |
| Ataxia-pancytopenia syndrome | |
| Short rib polydactyly syndrome | |
| Mohr syndrome | |
| Hyperostosis cranialis interna | Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. |
| Spasticity | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Flexion contracture | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Multiple mitochondrial dysfunctions syndrome 9b | |
| ATP1A2-associated neurological disorder | |
| Filippi syndrome | |
| SCOTT SYNDR | |
| Adult neuronal ceroid lipofuscinosis | |
| SIN3A-related intellectual disability syndrome due to a point mutation | |
| Skin and Hair Hypopigmentation | |
| CACNA1A-associated disorders | |
| Myoclonic absence seizure | |
| Developmental encephalopathy | |
| ARHGEF6-associated Neurodevelopmental disorder | |
| Abnormal circulating ornithine concentration | |
| Protein avoidance | |
| Glycosylphosphatidylinositol biosynthesis defect | |
| Preimplantation embryonic lethality | |
| Axial hypotonia | |
| Abnormal optic nerve morphology | |
| Severe combined immunodeficiency due to LCK deficiency | |
| Atypical glycine encephalopathy | |
| SLC6A1-related neurodevelopmental disorder | |
| Uveal melanoma | A uveal cancer that has_material_basis_in uvea pigment cells. |
| Hemiparesis | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| Cavernous hemangioma | |
| Hypoplastic enamel-onycholysis-hypohidrosis syndrome | |
| KMT2A Rearranged | |
| Neuroepithelial tumor | |
| Childhood absence epilepsy | A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. |
| DOCK2 deficiency | |
| Pulmonary fibrosis and/or bone marrow failure syndrome | |
| NKX2-6-related disorder | |
| Oxoglutaricaciduria | Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. |
| Congenital insensitivity to pain-hypohidrosis syndrome | |
| Evans syndrome | |
| MDM2-related condition | |
| Craniolenticulosutural dysplasia | |
| Specific granule deficiency | |
| KIF7-related ciliopathy spectrum disorder | |
| Absent inner and outer dynein arms | Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. |
| NIK deficiency | |
| Cataracts | |
| Intrahepatic cholangiocarcinoma | |
| Pituitary dependent hypercortisolism | |
| Depression | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| Polymerase proofreading associated polyposis | |
| Neoplasm of uterus | |
| Family history of cancer | |
| Alkuraya-Kucinskas syndrome | |
| Basilicata-Akhtar syndrome | |
| Autosomal dominant omodysplasia | |
| Distal shortening of limbs | |
| Platelet-activating factor acetylhydrolase deficiency | |
| Ariboflavinosis | |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | |
| EVC-associated disorder | |
| Breathing dysregulation | |
| Sterol carrier protein 2 deficiency | |
| Posterior polymorphous corneal dystrophy | |
| Rubinstein Taybi like syndrome | |
| SMC1A-related cohesinopathy | |
| Juvenile polyposis of infancy | |
| Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | |
| MFSD12 POLYMORPH | |
| Cogwheel rigidity | |
| Abdominal obesity-metabolic syndrome | |
| Hexosaminidase B | |
| Infantile liver failure | |
| Bile acid malabsorption | |
| BBS12-related ciliopathy | |
| Mendelian syndromes | |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | |
| Protein S deficiency disease | |
| Silver-Russell syndrome | OMIM mapping confirmed by DO. [LS]. |
| Lamb-Shaffer syndrome | |
| Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | |
| Immunodeficiency due to a late component of complement deficiency | |
| Hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| Respiratory distress associated | |
| Hereditary methemoglobinemia | |
| RECON progeroid syndrome | |
| Autosomal dominant auditory neuropathy | |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| Apolipoprotein c-III deficiency | |
| Van den Ende-Gupta syndrome | Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
| ADAR-related interferonopathy | |
| Bryant-Li-Bhoj neurodevelopmental syndrome | |
| Rhizomelic limb shortening | |
| Chromatinopathy | |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | |
| SIN3A-related intellectual disability syndrome | |
| Helicoid peripapillary chorioretinal degeneration | Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. |
| Dermatofibrosarcoma protuberans | A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. |
| Infantile-onset generalized dyskinesia | |
| Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | |
| Pearson syndrome | A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. |
| Bradyopsia | |
| PMPCB-related mitochondrial disorder | |
| Venous malformation | A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. |
| Isolated agenesis of gallbladder | |
| Bilateral cleft palate | Nonmidline cleft palate on the left and right sides. |
| Telecanthus | Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. |
| Neuropathic spinal arthropathy | |
| Hyperextensible skin | A condition in which the skin can be stretched beyond normal, and then returns to its initial position. |
| Abnormal myelination | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| Noncompaction cardiomyopathy | A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. |
| Right ventricular cardiomyopathy | Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. |
| Ventricular arrhythmia | |
| Vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| Dural ectasia | A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. |
| Abnormal digit morphology | any structural anomaly of the fingers or toes |
| Spontaneous | |
| Lip telangiectasia | Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. |
| Oral cavity telangiectasia | |
| Telangiectasia of the skin | |
| Cobalamin deficiency | |
| Hyperechogenic kidneys | An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. |
| Narrow chest | Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. |
| Reduced bone mineral density | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| Apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| Abnormal rectum morphology | any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| Sepsis | Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection. |
| Encephalitis | Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. |
| Episodic vomiting | Paroxysmal, recurrent episodes of vomiting. |
| Abnormal muscle fiber dystrophin expression | |
| AFib amyloidosis | |
| Ververi-Brady syndrome | |
| Aplasia/Hypoplasia of the corpus callosum | Absence or underdevelopment of the corpus callosum. |
| ALG9-associated autosomal dominant polycystic kidney disease | |
| CATSPER2-related condition | |
| GFPT1-related myasthenic syndrome | |
| Cataract 20 multiple | |
| Pure or complex autosomal recessive spastic paraplegia | |
| High myopia | |
| Hereditary peripheral neuropathy | |
| Sweeney-Cox syndrome | |
| Cohen-Gibson syndrome | |
| Inherited spastic paresis | |
| Azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| Cataract 31 multiple | |
| Qualitative or quantitative defects of myotubularin | |
| Progressive microcephaly | Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. |
| Recurrent encephalopathy | Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. |
| Rajab interstitial lung disease | |
| NE | |
| RFT1 related | |
| Megalencephaly-polydactyly syndrome | |
| NTHL1-deficiency tumor predisposition syndrome | |
| COL4A1 or COL4A2-related cerebral small vessel disease | |
| IFIH1-related interferonopathy | |
| Ankle flexion contracture | |
| Arthrogryposis-like hand anomaly | |
| Bladder exstrophy | Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall |
| Impaired ADP-induced platelet aggregation | Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. |
| POLE Exonuclease Domain Mutation | |
| Myotonic dystrophy | |
| Neuromotor delay | |
| Pulmonary artery atresia | A congenital anomaly with e narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. |
| SLC9A7-related neurodevelopmental disorder | |
| Syndromic neurodevelopmental disorder | |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| Cerebral atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| Diffuse mesangial sclerosis | Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. |
| Acetyl-CoA: carboxylase deficiency | |
| ITPR1-associated cerebellar ataxia spectrum disorder | |
| Generalized hypertrichosis | |
| Gingival overgrowth | |
| Facial dysmorphism | |
| Cleft lip | |
| Scapulohumeral muscular dystrophy | |
| Pharmacoresistant multifocal epilepsy | |
| Hyaline body myopathy | |
| ARID1A-related BAFopathy | |
| KAT6B-realted disoder | |
| Curly hair | |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | |
| Autosomal recessive sensorineural hearing loss | |
| Chronic colitis | A chronic inflammatory disease of the large intestine (colon, cecum and rectum). |
| Trichohepatoneurodevelopmental syndrome | |
| Recessive ARS-related multisystem disease | |
| CSF3R-Related Disorders | |
| Acute promyelocytic leukemia | An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) |
| ANK2-associated Neurodevelopmental Disorder | |
| FADD-related immunodeficiency | |
| Familial digital arthropathy-brachydactyly | |
| TPM2-related cap myopathy | |
| Gigantism | |
| IFT140-associated disorder | |
| Charcot-Marie-Tooth disease axonal - | |
| Isolated hereditary giant platelet disorder | |
| MYH6-related cardiac defects | |
| Colorectal carcinoma | disease cluster belonging to disease group cancer |
| MTOR-related megalencephaly and pigmentary mosaicism in skin | |
| TRIM8-related epileptic encephalopathy | |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | |
| Plasma fibronectin deficiency | |
| ITPR1-related disorders | |
| MYH2-related myopathy | |
| Familial isolated hyperparathyroidism | |
| Abnormal circulating lactate dehydrogenase concentration | |
| Lactic aciduria due to D-lactic acid | |
| Reduced muscle fiber perlecan | |
| Nonpersistence of intestinal lactase | |
| ATR-X-related syndrome | |
| Anti-SEMA4D Monoclonal Antibody VX15/2 | |
| Autosomal recessive PIEZO2 associated disease | |
| Androgen insensitivity | |
| Cardiac | |
| TRAF7-related syndrome | |
| TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | |
| Syndromic X-linked intellectual disability Nascimento | |
| Pilocytic astrocytoma | An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. |
| Hand-foot-genital syndrome | Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. |
| Guttmacher syndrome | Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
| GCGR-related hyperglucagonemia | |
| OSTEOPOIKILO | |
| Juvenile cataract-microcornea-renal glucosuria syndrome | |
| O'Donnell-Luria-Rodan syndrome | |
| Endocrine-cerebro-osteodysplasia syndrome | |
| Cephalocele | A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. |
| Cerebro-facio-thoracic dysplasia | |
| ABCB4-Related Intrahepatic Cholestasis | |
| Oligodontia | |
| Mega-corpus-callosum syndrome | |
| Fibrosis | |
| CODAS syndrome | |
| UBR4-associated neurodevelopmental syndrome | |
| Atrial flutter | A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. |
| Tachycardia | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| Abnormal morphology of left ventricular trabeculae | |
| PUM1-associated developmental disability-ataxia-seizure syndrome | |
| Sulfocysteinuria | |
| Turnpenny-fry syndrome | |
| Abnormality of the outer ear | An abnormality of the external ear. |
| POLYMICROGY | |
| Vissers-Bodmer syndrome | |
| Resistance to thyroid hormone | disease cluster belonging to disease group other |
| NAA15-related syndrome | |
| Cardiac-urogenital syndrome | |
| Nonspecific Intellectual Disability | |
| Malignant fibrous histiocytoma | Undifferentiated pleomorphic sarcoma (UPS) is an aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis. |
| Hereditary renal cancer | |
| Tufted angioma of skin | |
| Split-foot malformation-mesoaxial polydactyly syndrome | |
| Intestinal pseudoobstruction | |
| Exaggerated startle response | An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. |
| Sparse hair | Reduced density of hairs. |
| Agammaglobulinemia 8b | |
| Dengue virus | |
| Atrial conduction disease | |
| C1 inhibitor deficiency | A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. |
| Polydactyly of a biphalangeal thumb | |
| Storage pool disease of platelets | |
| Prolonged prothrombin time | Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. |
| Abnormal platelet aggregation | any functional anomaly in the adhesion of one platelet to one or more other platelets via adhesion molecules |
| Impaired thromboxane A2 agonist-induced platelet aggregation | |
| Pancytopenia | |
| Imagawa-Matsumoto syndrome | |
| Congenital sucrose-isomaltase deficiency | |
| Thalassemia | OMIM mapping confirmed by DO. [LS]. |
| RNASEH2A-related interferonopathy | |
| Non-lesional focal epilepsy | |
| Constitutional megaloblastic anemia | |
| Cavernous sinus meningioma | |
| Calvarial doughnut lesions-bone fragility syndrome | |
| Calvarial doughnut lesions | |
| Ataxia telangiectasi | |
| Pilarowski-Bjornsson syndrome | |
| Lower limb spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| GP130-deficient hyper-IgE syndrome | |
| Neurodevelopmental disorder and structural brain anomalies | |
| Platelet abnormalities | |
| Velocardiofacial syndrome | A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
| Meester-Loeys syndrome | |
| Recurrent Neisseria infections due to factor D deficiency | |
| Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome | |
| PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS | |
| Sponastrime dysplasia | |
| Skeletal dysplaisia | |
| Lichtenstein-Knorr syndrome | |
| Predisposition to dissection | |
| Karayol-Borroto-Haghshenas neurodevelopmental syndrome | |
| Partial agenesis of the corpus callosum | A partial failure of the development of the corpus callosum. |
| Mesothelioma | A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.|A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed) |
| Mucosa-associated lymphoma | |
| SCN3A-related neurodevelopmental disorder | |
| Spastic paraplegia 30b | |
| Emm-null phenotype | |
| CTNNA1-associated F | |
| GARS1-related neuropathies | |
| Oocyte/zygote/embryo maturation arrest | |
| Supratentorial primitive neuroectodermal tumor | |
| RYR3-related Epileptic encephalopathy | |
| Astroblastoma | |
| IgE responsiveness | |
| Hereditary skin disorder | |
| ACCES syndrome | |
| ARHGEF9-related neurodevelopmental disorder | |
| RECQL4-related spectrum disorders | |
| Kleefstra syndrome due to a point mutation | |
| Pyloric stenosis | |
| Esophageal atresia | |
| Oculoauricular syndrome | |
| Primary coenzyme Q10 deficiency | |
| Congenital hydrocephalus | |
| NUDT2-associated condition | |
| TARP syndrome | |
| Complex lethal osteochondrodysplasia | |
| Snijders blok-fisher syndrome | |
| Pachygyria | A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. |
| Neurodevelopmental disorders | |
| Neonatal death | Death within the first 28 days of life. |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | |
| COL2A1-related skeletal dysplasia | |
| Ascending aortic dissection | A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. |
| ACTL6B-related recessive epilepsy | |
| Hyperphenylalaninemia due to DNAJC12 deficiency | |
| CDC42BPB-related neurodevelopmental syndrome | |
| Chilton-Okur-Chung neurodevelopmental syndrome | |
| Inherited oocyte maturation defect | |
| Increased hepatic glycogen content | An increase in the amount of glycogen stored in hepatocytes compared to normal. |
| Neuro-ectodermal phenotype | |
| GDF5OS-related condition | |
| X-linked dystonia-parkinsonism | |
| Olaparib response | |
| Mullerian aplasia and hyperandrogenism | |
| SERKAL syndrome | |
| Monomelic amyotrophy | |
| Facial paresis | |
| Neurofacioskeletal syndrome | |
| Prune belly syndrome | |
| NKX3-2-related disorder | |
| Lower urinary tract obstruction | |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | |
| Mucopolysaccharidosis-plus syndrome | |
| Isolated anhidrosis | |
| Familial cavitary optic disk anomaly | |
| Bowen-Conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Webb-Dattani syndrome | |
| Caudal duplication | |
| PPAN-P2RY11-related disorder | |
| Wooly hair-palmoplantar keratoderma syndrome | |
| ASIP-related condition | |
| Primary intraosseous venous malformation | |
| X-linked dominant chondrodysplasia | |
| Ventriculomegaly and arthrogryposis | |
| Protein-losing enteropathy | OMIM mapping confirmed by DO. [SN]. |
| Cromer blood group system | |
| Chondrodysplasia-pseudohermaphroditism syndrome | |
| Beck-Fahrner syndrome | |
| Acrofacial dysostosis Cincinnati | |
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
| ABHD14A-ACY1-related disorder | |
| Autosomal dominant sideroblastic anemia | |
| Even-plus syndrome | |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | |
| Dyschromatosis universalis hereditaria | |
| Cancer | A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. |
| Cerebellar ataxia-hypogonadism syndrome | |
| Weiss-Kruszka syndrome | |
| Sarcosine dehydrogenase deficiency | |
| Mucocutaneous ulceration | |
| Osteosclerotic metaphyseal dysplasia | |
| Polyendocrine-polyneuropathy syndrome | |
| Intellectual developmental disorder and retinitis pigmentosa | |
| ID | |
| Agenesis of corpus callosum | Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. |
| Skraban-Deardorff syndrome | |
| Kleine-Levin syndrome | A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. |
| Sudden infant death-dysgenesis of the testes syndrome | |
| Alazami-Yuan syndrome | |
| C | |
| Granulocytopenia | |
| DCDC5-related condition | |
| Deeah syndrome | |
| Hepatitis | |
| Neurodevelopmental-craniofacial syndrome | |
| Isolated hyperchlorhidrosis | |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | |
| Hereditary North American Indian childhood cirrhosis | |
| Scalp-ear-nipple syndrome | |
| Vibratory urticaria | |
| Autosomal dominant vibratory urticaria | |
| Heart and brain malformation syndrome | |
| Craniofacial anomalies and anterior segment dysgenesis syndrome | |
| Paganini-Miozzo syndrome | |
| Congenital heart defects and ectodermal dysplasia | |
| Reticulate acropigmentation of Kitamura | A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | |
| GM2A-related condition | |
| H1-4-related disorder | |
| Fatty acyl-CoA reductase 1 deficiency | |
| Brachydactyly-arterial hypertension syndrome | |
| Urinary bladder | A membranous sac in many vertebrates that serves for the temporary retention of urine and discharges by the urethra. |
| NME1-NME2-related disorder | |
| Curry-Jones syndrome | |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | |
| Obesity due to CEP19 deficiency | |
| C3 glomerulonephritis | |
| Cone-rod synaptic disorder syndrome | |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | |
| Eosinophil peroxidase deficiency | |
| Kallikrein | |
| X-linked MED12-related disorder | |
| White matter deficit | |
| Breasts and/or nipples | |
| Inclusion body myopathy and brain white matter abnormalities | |
| Uveal coloboma-cleft lip and palate-intellectual disability | |
| Preterm premature rupture of membranes | |
| Microcornea-myopic chorioretinal atrophy | |
| Progressive peripheral neuropathy | |
| Progressive gait ataxia | A type of gait ataxia displaying progression of clinical severity. |
| Autosomal dominant Opitz G/BBB syndrome | |
| Deafness dystonia syndrome | A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. |
| MORC2-related neurodevelopmental disorders | |
| Cystine urolithiasis | |
| Axon pathfinding | |
| Retinal dystrophy and obesity | |
| Death in childhood | Death in during childhood, defined here as between the ages of 2 and 10 years. |
| D-6 | |
| Erythrokeratodermia variabilis | OMIM mapping confirmed by DO. [SN]. |
| Dysplastic corpus callosum | Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. |
| Sudden unexplained death in childhood | |
| Irinotecan response - Toxicity | |
| Pancytopenia due to IKZF1 mutations | |
| PCARE-related retinopathy | |
| Refsum syndrome | |
| MN1 C-terminal truncation | |
| Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| Primary pulmonary hypoplasia | |
| Head and neck cancer | An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. |
| Central areolar choroidal dystrophy | |
| TET3 deficiency | |
| Congenital omphalocele | |
| Midface hypoplasia | decrease in the number of normal cells in normal arrangement in the midface, typically resulting in decreased size and leading to a concave-looking face |
| Predisposition to neuroblastoma | |
| Renal transitional cell carcinoma | |
| Malignant neoplasm of nervous system | |
| T-CELL LYMPHOPE | |
| T-lymphocyte deficiency | |
| TLK2-related neurodevelopmental disorder | |
| Congenital anomaly of face | |
| Congenital structural myopathy | |
| Reduced left ventricular ejection fraction | |
| Increased risk to develop myelodysplastic syndrome | |
| SETD2-related neurodevelopmental disorder | |
| BBS7-related ciliopathy | |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | |
| Autosomal recessive myogenic arthrogryposis multiplex congenita | |
| Inherited aplastic anemia | |
| Thromboxane synthetase deficiency | |
| RP1-related recessive retinopathy | |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | |
| Cholesteatoma of middle ear | |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | |
| Lessel-kubisch syndrome | |
| Sessile serrated polyposis cancer syndrome | |
| Hyperplastic polyposis syndrome | |
| X-linked cardiomyopathies | |
| X-linked myopathies | |
| FPR1 POLYMORPH | |
| Oligospermia | |
| PIGG-related neurodevelopmental disorder | |
| Early-onset dementia of unclear | |
| Severe muscular hypotonia | A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. |
| Abnormal finger morphology | |
| Normochromic microcytic anemia | A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. |
| SCAMP5-related neurodevelopmental disorder | |
| SCAMP5-related neurodevelopmental and movement disorder | |
| Hao-Fountain syndrome due to USP7 mutation | |
| Hereditary cerebellar ataxia | |
| Pervasive developmental disorder | A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. |
| ASH1L-related neurodevelopmental disorders | |
| ITPR1-related syndromic and non-syndromic hereditary ataxias | |
| RP1-related retinal dystrophy | |
| DYNC1H1-related neuronopathy | |
| USP7-related neurodevelopmental disorder | |
| Liberfarb syndrome | |
| Chromosome 1p36 deletion syndrome | |
| Late-onset junctional epidermolysis bullosa | |
| Corticosteroids response | |
| Abnormal pulmonary interstitial morphology | |
| CYP1B1-related glaucoma | |
| SIM1-associated metabolic syndrome | |
| COL6A5 POLYMORPH | |
| Familial congenital nasolacrimal duct obstruction | |
| Rickets | A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. |
| Syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| Short telomere length | |
| Cryptophthalmos syndrome | |
| Macrocytic anemia | |
| Premature graying of hair | Development of gray hair at a younger than normal age. |
| WBP11 spliceosomopathy | |
| Klippel-Trenaunay syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| Neurodevelopmental | |
| Premature coronary artery atherosclerosis | |
| Leber-like hereditary optic neuropathy | |
| Idiopathic environmental intolerance | disease cluster belonging to disease group other |
| Joint dislocation | Displacement or malalignment of joints. |
| Pituitary stalk interruption syndrome | |
| Autosomal recessive infantile hypercalcemia | |
| Childhood-onset autosomal recessive myopathy | |
| Keratosis pilaris | |
| Developmental dysplasia of the hip | |
| Keratosis pilaris atrophicans | |
| MME-related autosomal dominant Charcot Marie Tooth disease | |
| Periventricular cysts | |
| Atrioventricular septal defect and common atrioventricular junction | |
| Gamma-glutamylcysteine synthetase deficiency | |
| Progressive retinal dystrophy due to retinol transport defect | |
| Presynaptic congenital myasthenic syndrome | |
| Hereditary mucoepithelial dysplasia | |
| Benign cystic nephroma | |
| AP-4 deficiency syndrome | |
| Skeletal myopathy | |
| KIZ-related retinopathy | |
| IGLL1-related condition | |
| GEN1-related prostate cancer | |
| JMJD1C-associated Neurodevelopmental Disorder | |
| Dysosteosclerosis | |
| Predisposition to Wilms tumor | |
| LRP5-related exudative vitreoretinopathy | |
| Disease of glomerular basement membrane | |
| Spastic paraplegia 18a | |
| Early-onset chronic pancreatitis | |
| Isolated ectopia lentis | |
| TXNRD2-associated Cardiomyopathy | |
| Intellectual developmental disorder- | |
| Glycoprotein storage disease | |
| SCN3A-related neurodevelopmental sisorder | |
| PAK1-related neurodevelopmental disorders | |
| POLG2-related spectrum disorders | |
| CIC-related neurodevelopmental disorders | |
| Properdin deficiency | |
| Generalized choriocapillaris dystrophy | |
| Juvenile hyaline fibromatosis | |
| HELIX syndrome | |
| Involuntary movements | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Renal neoplasm | |
| HIST1H1E-related neurodevelopmental disorder | |
| Li-Ghorbani-Weisz-Hubshman syndrome | |
| DNAJC30-associated disorder | |
| Leber hereditary optic neuropathy | OMIM mapping confirmed by DO. [SN]. |
| Leber optic atrophy | Degeneration of retinal ganglion cells and their axons. |
| SETD1B-associated disorder | |
| Genitourinary and/or brain malformation syndrome | |
| SPATA5L1-associated disorder | |
| Syndromic congenital hemolytic and dyserythropoietic anemia | |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | |
| HSPB8-related neuromuscular disorder | |
| Autoimmune hemolytic anemia | An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. |
| Autoimmune thrombocytopenia | |
| TPM2-related myopathy | |
| Very long chain fatty acid accumulation | |
| Penile hypospadias | Location of the urethral opening on the inferior aspect of the penis. |
| PLXNA1-related neurodevelopmental disorder | |
| Dworschak-Punetha neurodevelopmental syndrome | |
| TCF7L2-relatedIntellectual disability | |
| MTSS2-related neurodevelopmental disorder | |
| EZH1-neurodevelopmental syndrome | |
| Occult maculopathy | |
| Congenital titinopathy | |
| NRXN3-associated neurodevelopmental disorder | |
| KATNAL2-related autism | |
| DHX34-related Neurodevelopmental Disorder | |
| Predisposition to thrombocytopenia | |
| Fetal ascites | Accumulation of fluid in the peritoneal cavity during the fetal period. |
| Dysgenesis of the cerebellar vermis | Defective development of the vermis of cerebellum. |
| Aplasia/Hypoplasia of the cerebellum | |
| Colorectal cancer susceptibility | |
| Complex I deficiency | |
| Fucosyltransferase 6 deficiency | |
| Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Bockenheimer syndrome | |
| Abnormality of the dentition | |
| Cornelia de Lange-like syndrome | |
| LACTASE PERSISTE | |
| JMJD7-PLA2G4B-related disorder | |
| Gingival fibromatosis-hypertrichosis syndrome | |
| HCN2 related developmental and epileptic encephalopathy | |
| Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | |
| SLC6A20-related Neurodevelopmental Disorder | |
| DNHD1-related Intellectual Disability | |
| KIF16B-related Intellectual Disability | |
| Synovial plica syndrome | |
| Radio-Tartaglia syndrome | |
| CARDIOMYOPA | |
| Inborn glycerol kinase deficiency | |
| SNAP25-related early-onset developmental and epileptic encephalopathy | |
| Ophthalmoplegia | |
| Severe | |
| TMEM53-related craniotubular dysplasia | |
| Craniotubular dysplasia | |
| Diamond-Blackfan anemia-like | |
| CACNA1D-related neurodevelopmental and endocrine disorders | |
| TRRAP-related neurodevelopmental disorder | |
| WAC-related neurodevelopmental disorder | |
| TRAPPC6B-related neurodevelopmental disorder | |
| CSNK2A1-related neurodevelopmental syndrome | |
| Cardioacrofacial dysplasia | |
| Encephalomyopathy | |
| West Nile virus | |
| Encephalitis/encephalopathy | |
| Wolfram-like disorder | |
| Early-onset parkinsonism-intellectual disability syndrome | |
| Lessel-Kreienkamp syndrome | |
| Neurooculorenal syndrome | |
| UNC13A-associated disorder | |
| PYCR1- related autosomal recessive cutis laxa | |
| Familial ovarian carcinoma | |
| KCNAB2-related epilepsy | |
| COL7A1-related epidermolysis bullosa | |
| Primary immunodeficiency syndrome due to p14 deficiency | |
| KCND2-related neurodevelopmental disorder | |
| Reduced sperm motility | An abnormal reduction in the mobility of ejaculated sperm. |
| Abnormal sperm morphology | A structural anomaly of sperm. |
| Linear porokeratosis | |
| NDUFB11-related disorders | |
| ATOH7-related condition | |
| Immunodeficiency and Autoimmune Enterocolopathy | |
| Prolonged electroretinal response suppression | |
| Dentatorubral-pallidoluysian atrophy | A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. |
| Cardiac valvular defect | |
| TFRC-related combined immunodeficiency | |
| Autosomal recessive non-syndromic intellectual disability | |
| Polyvalvular heart disease syndrome | |
| Dentin dysplasia | A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. |
| ANE syndrome | |
| Growth retardation | |
| Mitochondrial complex 5 | |
| Alkaline ceramidase 3 deficiency | |
| ARID2-related BAFopathy | |
| Transient infantile hypertriglyceridemia and hepatosteatosis | |
| Severe combined immunodeficiency due to LAT deficiency | |
| Glutamate pyruvate transaminase 2 deficiency | |
| Congenital sodium diarrhea | |
| Keipert syndrome | |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | |
| Ectodermal dysplasia-syndactyly syndrome | |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | |
| Coloboma of optic nerve | OMIM mapping confirmed by DO. [SN]. |
| Hereditary sclerosing poikiloderma | |
| Mayer Rokitansky Kuster Hauser syndrome | |
| Autosomal recessive centronuclear myopathy | |
| Kohlschutter-Tonz syndrome-like | |
| IPO8-related aortopathy | |
| VISS syndrome | |
| IPO8 related Connective tissue disorder | |
| Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | |
| Rare disease | |
| Progressive muscular dystrophy | |
| McLeod neuroacanthocytosis syndrome | McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
| Microform holoprosencephaly | |
| Craniosynostosis and dental anomalies | |
| Midline facial cleft | A congenital malformation with a cleft (gap or opening) in the midline of the face. |
| Pericallosal lipoma | |
| Skin tags | Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. |
| Preauricular skin tag | A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear). |
| SNAP25 related neurodevelopmental disorder | |
| Micromelia | The presence of abnormally small extremities. |
| CNGA1-related retinopathy | |
| Abnormal cerebral cortex morphology | any structural anomaly of thin layer of grey matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri; it is responsible for intellectual faculties and higher mental functions |
| Colpocephaly | Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. |
| Arachnoid cyst | An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. |
| Abnormal cerebellar vermis morphology | |
| CHRM1-related neurodevelopmental disorder | |
| Delta-beta-thalassemia | Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. |
| WLS syndrome | |
| Zaki syndrome | |
| Keratolytic winter erythema | |
| Erythroleukemia | |
| ER BLOOD GROUP SYS | |
| Faundes-Banka syndrome | |
| PEHO-like syndrome | |
| B-cell immunodeficiency | |
| Lazy leukocyte syndrome | |
| Blue color blindness | A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. |
| Brain dopamine-serotonin vesicular transport disease | |
| Isolated sedoheptulokinase deficiency | |
| Combined immunodeficiency due to GINS1 deficiency | |
| Keppen-Lubinsky syndrome | |
| PRKAR1B-related neurodevelopmental disorder | |
| Marbach-Schaaf neurodevelopmental syndrome | |
| PIP5K1C-related neurodevelopmental disorder | |
| Neonatal respiratory distress | Respiratory difficulty as newborn. |
| Hao-Fountain syndrome | |
| CTR9-related neurodevelopmental disorder | |
| Multifocal pattern dystrophy simulating fundus flavimaculatus | |
| ACTL6A-related BAFopathy | |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | |
| Elsahy-Waters syndrome | |
| Lymphedema-posterior choanal atresia syndrome | |
| NEK9-related lethal skeletal dysplasia | |
| Craniofacial dysplasia - osteopenia syndrome | |
| Brain imaging abnormality | |
| Multifocal breast carcinoma | |
| Distinct bent bone dysplasia | |
| Camptosynpolydactyly | |
| Mesoaxial synostotic syndactyly | |
| Frontorhiny | |
| P5CS deficiency | |
| DNM1L-related movement disorder | |
| EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma | |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | |
| Glutamine synthetase stabilization disorder | |
| X-linked syndromic intellectual disability | |
| XPR1-related primary familial brain calcification | |
| SCN8A-related complex neurodevelopmental disorder | |
| OFD1-related ciliopathy | |
| RLIM-related syndromic intellectual disability | |
| IFIH1-related interferonopathy | |
| Short stature and microcephaly | |
| Blakemore-Durmaz-Vasileiou | |
| BDV syndrome | |
| GNB5-reled disorder | |
| Tolchin-Le Caignec syndrome | |
| Albright hereditary osteodystrophy | |
| RAPH BLOOD GROUP SYS | |
| B-cell childhood acute lymphoblastic leukemia | |
| Basan syndrome | |
| Keratoderma | |
| Adermatoglyphia | |
| Diets-Jongmans syndrome | |
| Neutrophil inclusion bodies | The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. |
| Parenti-mignot neurodevelopmental syndrome | |
| Macrocephaly/megalencephaly syndrome | |
| Humerofemoral hypoplasia | |
| Tetraamelia syndrome | |
| FIBRINO | |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| Estrogen resistance syndrome | |
| Biliary | |
| MAN1B1-congenital disorder of glycosylation | |
| Congenital anomalies of kidney and urinary tract syndrome | |
| Band heterotopia of brain | |
| Triokinase and FMN cyclase deficiency syndrome | |
| Gamma-Glutamyltransferase deficiency | |
| Thyroid adenoma | |
| Androgen deprivation therapy response | |
| ATL1-related spastic paraplegia | |
| Squalene synthase deficiency | |
| Primary peritoneal carcinoma | |
| Congenital chylothorax | |
| Tall stature-intellectual disability-renal anomalies syndrome | |
| Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | |
| Subcutaneous panniculitis-like T-cell lymphoma | |
| Pili torti-developmental delay-neurological abnormalities syndrome | |
| Hereditary thrombophilia due to congenital histidine-rich | |
| DOHH related neurodevelopmental disorder | |
| Pyle metaphyseal dysplasia | |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | |
| Childhood onset sensorineural hearing impairment | Sensorineural hearing impairment with childhood onset. |
| T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | |
| Macroglossia | Increased length and width of the tongue. |
| Short 5th finger | Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. |
| Familial retinal arterial macroaneurysm | |
| AGO1-related neurodevelopmental disorder | |
| Mycotic Aneurysm | |
| Catifa syndrome | |
| Hydroxykynureninuria | |
| Juvenile arthritis due to defect in LA | |
| Mirror movements 1 and/or agenesis of the corpus callosum | |
| Neurometabolic disorder due to serine deficiency | |
| Glutamine related condition | |
| Behavioral variant of frontotemporal dementia | |
| Familial idiopathic inflammatory myopathy | |
| Visual impairment and progressive phthisis bulbi | |
| Tubulointerstitial kidney disease | |
| Gabriele de Vries syndrome | |
| Immunodeficiency due to purine nucleoside phosphorylase deficiency | |
| CTCF-related neurodevelopmental disorder | |
| Chopra-Amiel-Gordon syndrome | |
| Heme oxygenase 1 deficiency | |
| Oculocerebrodental syndrome | |
| SPOP-related neurodevelopmental condition | |
| Tacrolimus response - Metabolism/ | |
| Pancreatic triacylglycerol lipase deficiency | |
| Gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Inherited acute myeloid leukemia | |
| Syndromic X-linked intellectual disability Shashi | |
| USP9X-related neurodevelopmental disorder | |
| GEMIN5-related neurodevelopmental disorder | |
| Mayer-Rokitansky-Kuster-Hauser syndrome | |
| Anhydramnios | |
| Enlarged kidney | larger than average size of the kidney |
| NBEA-related complex neurodevelopmental disorder | |
| PCDH19-related epilepsy | |
| Persistent pupillary membrane | The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. |
| Muscular channelopathy | |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | |
| Platyspondylic dysplasia | |
| Deafness-intellectual disability | |
| BECKER NE | |
| Becker nevus syndrome | |
| BECKER NEVUS SYNDR | |
| CONGENITAL SMOOTH MUSCLE HAMART | |
| Paraplegia-intellectual disability-hyperkeratosis syndrome | |
| SYNGAP1-related encephalopathy | |
| Scimitar syndrome | |
| H3-3B-related disorder | |
| EMILIN-1-related connective tissue disease | |
| Chromosome 22q11.2 deletion syndrome | |
| Peripheral motor neuropathy | |
| Wolf-Hirschhorn like syndrome | |
| NRXN2-related Austism Spectrum Disorder | |
| CSMD3-associated Hirschsprung disease | |
| TSPOAP1-related Dystonia | |
| DNHD1-related Neurodevelopmental Disorder | |
| Diencephalic-mesencephalic junction dysplasia | |
| SLC4A10-related neurodevelopmental disorder | |
| SEPHS1-related developmental delay | |
| Ectopic thyroid | Mislocalised thyroid gland. |
| Spastic cerebral palsy | A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. |
| Pilomyxoid astrocytoma | |
| Kilquist syndrome | |
| Delpire-McNeill syndrome | |
| HTRA2-Related Disorders | |
| Episodic kinesigenic dyskinesia and familial infantile convulsions | |
| Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | |
| BBS2-related ciliopathy | |
| JMJD1C-related Neurodevelopmental disorder | |
| Familial infantile bilateral striatal necrosis | |
| Congenital chromosomal disease | |
| ANK2-associated Complex Neurodevelopmental Disorder | |
| SYN1-related neurodevelopmental disorder | |
| Bladder exstrophy-epispadias-cloacal extrophy complex | |
| Maternal riboflavin deficiency | |
| Rare isolated myopia | |
| ADan amyloidosis | |
| ABri amyloidosis | |
| Hereditary thrombophilia due to congenital protein S deficiency | |
| Hypoproteinemia | A decreased concentration of protein in the blood. |
| COASY-Related Disorders | |
| Russell-Silver syndrome | |
| Focal and segmental glomerulosclerosis | |
| Late-onset cone-rod dystrophy | |
| Familial sick sinus syndrome | |
| TNK2-associated Epilepsy syndrome | |
| Mitochondrial cardiomyopathy and sudden cardiac failure | |
| KCNH1 associated disorder | |
| Immunodeficiency 87 and autoimmunity | |
| COL6A2-related core myopathy | |
| ILK-related cardiomyopathy | |
| Holoprosencephaly spectrum disorder | |
| TAOK2-associated neurodevelopmental disorder | |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | |
| NUS1-related epilepsy-myoclonus-ataxia syndrome | |
| GPR45-related condition | |
| FPGT-TNNI3K-related disorder | |
| Hyperandrogenism | |
| Borderline microcephaly | |
| 3-Methylglutaric aciduria | |
| Myeloid maturation arrest | |
| SHANK1-associated disorder | |
| CACNA1A-associated disorder | |
| EEF1D-associated Neurodevelopmental Syndrome | |
| FBRSL1-associated neurodevelopmental syndrome | |
| MICAL1-related Lateral temporal epilepsy | |
| JARID2-related Neurodevelopmental syndrome | |
| KIF21B-related Neurodevelopmental disorder | |
| TAOK1-related neurodevelopmental disorder | |
| NRXN2-related autism spectrum disorder | |
| Classic Hodgkin lymphoma | |
| Suleiman-El-Hattab syndrome | |
| Mitochondrial complex III deficiency | |
| Facial palsy | |
| Indifference to pain | |
| ATP7A-realted disorder | |
| SHANK1-related Neurodevelopmental Disorder | |
| BLOOD GROUP--DIEGO SYS | |
| Hepatorenocardiac degenerative fibrosis | |
| Ochoa syndrome | |
| Mild macrothrombocytopenia | |
| Verrucous hemangioma | |
| Hereditary mixed polyposis syndrome | |
| Congenital hypomyelination neuropathy | |
| KIF5A-related amyotrophic lateral sclerosis | |
| SCAF4-associated Neurodevelopmental disorder | |
| CLIP1-related intellectual disability | |
| Atrophy/Degeneration affecting the central nervous system | |
| Myopathic facies | A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. |
| Non-syndromic renal or urinary tract malformation | |
| X-linked complex neurodevelopmental disorder | |
| DNAH14-Associated Neurodevelopmental Disorder | |
| TOP2B-related neurodevelopmental disorder | |
| DDX23-related Neurodevelopmental disorder | |
| Specific language impairment | |
| Conjugate gaze palsy | |
| Abnormal circulating lipid concentration | |
| RFX3-related intellectual disability | |
| CAMSAP1-related neuronal migration disorder | |
| CNOT9-associated neurodevelopmental disorder | |
| CNOT3-associated disorder | |
| Hernia | |
| Usmani-Riazuddin syndrome | |
| Axenfeld-Rieger anomaly | |
| CST3-related Leukodystrophy | |
| LEUKODYSTRO | |
| Non-syndromic syndactyly | |
| Exstrophy-epispadias complex | |
| Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | |
| Pubertal developmental failure in females | |
| Delayed CNS myelination | Delayed myelination in the central nervous system. |
| GPT2-related neurodevelopmental disorder | |
| GRIN2B-related developmental delay | |
| USP9X-related intellectual developmental disorder | |
| Serpentine fibula | |
| Common Congenital Anomalies of the Kidney and Urinary Tract | |
| GNAS-associated disease | |
| Autosomal dominant wooly hair | |
| ACTB-associated syndromic thrombocytopenia | |
| GPR143-related foveal hypoplasia | |
| BAZ2B-associated neurodevelopmental disorder | |
| DCHS1-related congenital anomalies of the kidney and urinary tract | |
| Neonatal inflammatory skin and bowel disease | |
| CDC42-associated inflammatory disease | |
| Jaberi-Elahi syndrome | |
| HTRA1-related autosomal dominant cerebral small vessel disease | |
| PAUL-CHAO NEURODEVELOPMENTAL SYNDR | |
| IMPG2-related recessive retinopathy | |
| AK1-related condition | |
| Transient myeloproliferative syndrome | |
| Hereditary hypotrichosis | |
| KCND1-associated seizure disorder | |
| Yoon-Bellen neurodevelopmental syndrome | |
| Multiple congenital anomalies-neurodevelopmental syndrome | |
| X-linked congenital hemolytic anemia | |
| X-linked acrogigantism due to Xq26 microduplication | |
| FRYL-related developmental disorder | |
| Pan-Chung-Bellen syndrome | |
| Alpha | |
| Cataract 46 juvenile-onset | |
| Oculogastrointestinal-neurodevelopmental syndrome | |
| Immunodeficiency 85 and autoimmunity | |
| GRID1-associated neurodevelopmental disorder | |
| Neuromuscular disease and ocular or auditory anomalies | |
| CDH10-related condition | |
| BSN related epilepsy | |
| Hereditary attention deficit-hyperactivity disorder | |
| Hatipoglu immunodeficiency syndrome | |
| Advanced sleep phase syndrome | A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. |
| Baralle-Macken syndrome | |
| PPRC1-related conditon | |
| Brunet-Wagner neurodevelopmental syndrome | |
| Barrett esophagus | |
| Parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Finnish upper limb-onset distal myopathy | |
| Limb-mammary syndrome | |
| Precocious puberty | The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. |
| SLIT3-related anomalies of the kidney and urinary tract | |
| Tessadori-van Haaften neurodevelopmental syndrome | |
| Armfield syndrome | |
| Neonatal encephalopathy | |
| Tricho-oculo-dermo-vertebral syndrome | |
| Onychodystrophy | |
| KCNA3-associated developmental and epileptic encephalopathy | |
| KCNA3-associated disorder | |
| SPEG-related congenital myopathy | |
| Hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| SGSM3-related intellectual disability | |
| Fentanyl response - Dosage | |
| Atypical chronic myeloid leukemia | |
| Early-onset anterior polar cataract | |
| ALSAHAN-HARRIS SYNDR | |
| Premature birth | The birth of a baby of less than 37 weeks of gestational age. |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | |
| Male infertility due to gonadal dysgenesis or sperm disorder | |
| TMEM63B-associated disorder | |
| Rare epilepsy | |
| UBR5-associated neurodevelopmental condition | |
| Childhood Onset VCP-related Neurodevelopmental Disorder | |
| DEGCAGS syndrome | |
| Normal pressure hydrocephalus | OMIM mapping confirmed by DO. [SN]. |
| Megabladder | |
| CLDN5-related neurodevelopmental disorder | |
| Pure gonadal dysgenesis | |
| RMP64-related condition | |
| Abnormality of the vertebral column | Any abnormality of the vertebral column. |
| APOBEC3B-related condition | |
| DHX34-associated thromobocytopenia | |
| Immunodeficiency 89 and autoimmunity | |
| Mental disorder | disease cluster belonging to disease group developmental |
| Non-compaction cardiomyopathy | |
| Overgrowth syndrome | |
| SHANK1-associated neurodevelopmental disorder | |
| GABRA4-related developmental and epileptic encephalopathy | |
| MYCBP2-associated disorder | |
| Disabling pansclerotic morphea of childhood | |
| Tall stature | A height above that which is expected according to age and gender norms. |
| MAK-related retinopathy | |
| SOX17-related pulmonary arterial hypertension | |
| Heritable pulmonary arterial hypertension | |
| Jaw-winking syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brown syndrome | |
| Immunodeficiency 91 and hyperinflammation | |
| RNU4-2-associated neurodevelopmental disorder | |
| RNU4-2-related condition | |
| Disorder of development or morphogenesis | |
| Question mark ears | |
| Hyperbiliverdinemia | |
| CES1-related condition | |
| Corticosteroid-binding globulin deficiency | |
| Alpha-2-plasmin inhibitor deficiency | |
| Seborrhea-like dermatitis | |
| Prieto syndrome | |
| IDUA-related core myopathy | |
| FGFR3-related CATSHL syndrome | |
| Fliedner-Zweier syndrome | |
| KDM2B-related syndrome | |
| El Hayek-Chahrour neurodevelopmental disorder | |
| Familial hyperprolactinemia | |
| Multiple fibroadenoma of the breast | |
| Glutaryl-CoA oxidase deficiency | |
| Santos syndrome | |
| Exertional Heat Illness | |
| Buratti-Harel syndrome | |
| KDM2A-related neurodevelopmental disorder | |
| LAMA5-related multisystemic syndrome | |
| Wilms tumor predisposition | |
| Female infertility due to zona pellucida defect | |
| Autosomal dominant dilated cardiomyopathy | |
| Autosomal dominant myopathies | |
| Autosomal recessive myopathies | |
| John Milton Hagen blood group system | |
| Thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| Kaposi sarcoma | |
| Moderate | |
| Oculopharyngodistal myopathy | |
| Primary CD59 deficiency | |
| UNC79-related neurodevelopmental disorder | |
| LRBA deficiency | |
| Epithelial basement membrane dystrophy | |
| Mitochondrial DNA depletion syndrome 20 | |
| GABBR1-related neurodevelopmental disorder | |
| F8-related disorders | |
| Bronchiectasis and nasal polyposis | |
| PSMC5-related Neurodevelopmental proteasomopathy |
