OMIM Gene-Disease Associations Dataset

Description Disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications
Measurement association by literature curation
Association gene-phenotype associations by literature evidence for phenotype-causing gene mutations
Category disease or phenotype associations
Resource Online Mendelian Inheritance in Man
Citation(s)
Last Updated 2015 Apr 06
Stats
  1. 4552 genes
  2. 6175 phenotypes
  3. 6666 gene-phenotype associations

Data Access

API
Script

Visualizations

  • Attribute Similarity

  • Gene Attribute

  • Gene Similarity

phenotype Gene Sets

6175 sets of genes associated with phenotypes from the curated OMIM Gene-Disease Associations dataset.

Gene Set Description
door 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.
sick sinus syndrome 1
sick sinus syndrome 2
branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
meier-gorlin syndrome 1
meier-gorlin syndrome 2
meier-gorlin syndrome 3
meier-gorlin syndrome 4
meier-gorlin syndrome 5
{stature qtl 2}
short syndrome
?corneal intraepithelial dyskeratosis and ectodermal dysplasia
nemaline myopathy 6, autosomal dominant
{migraine, susceptibility to, 8}
{encephalopathy, acute, infection-induced, susceptibility to, 6}
mental retardation, severe, with spasticity and tapetoretinal degeneration
{sublingual nitroglycerin, susceptibility to poor response to}
methemoglobinemia, type i
mental retardation, autosomal recessive, 9/26
[body mass index qtl 15]
dyserythropoietic anemia, congenital, type iii
corneal dystrophy, schnyder type
epidermolysis bullosa dystrophica, ad
{retinal disease in usher syndrome type iia, modifier of}
{systemic lupus erythematous, association with susceptibility to, 6}
?otofaciocervical syndrome 2
epidermolysis bullosa dystrophica, ar
spastic paraplegia 8, autosomal dominant KIAA0196|This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
leri-weill dyschondrosteosis
plasma triglyceride level qtl, low
chromosome 7q11.23 deletion syndrome, distal, 1.2mb
craniosynostosis, philadelphia type Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly.
{autoimmune disease, susceptibility to, 1}
fanconi anemia, complementation group p
fanconi anemia, complementation group q
carpenter syndrome 2
fanconi anemia, complementation group i
fanconi anemia, complementation group j
{low renin hypertension, susceptibility to}
fanconi anemia, complementation group l
fanconi anemia, complementation group m
fanconi anemia, complementation group n
fanconi anemia, complementation group o
fanconi anemia, complementation group a
fanconi anemia, complementation group b
fanconi anemia, complementation group c
fanconi anemia, complementation group e
fanconi anemia, complementation group f
fanconi anemia, complementation group g
warburg micro syndrome 1
warburg micro syndrome 3
warburg micro syndrome 2
warburg micro syndrome 4
hyperoxaluria, primary, type iii
{bladder cancer, somatic}
myasthenia, congenital, with tubular aggregates 1
{autism, susceptibility to, x-linked 5}
epilepsy, familial focal, with variable foci
bosley-salih-alorainy syndrome
mental retardation, autosomal dominant 19
mental retardation, autosomal dominant 18
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.
dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
mental retardation, autosomal dominant 10
mental retardation, autosomal dominant 13
mental retardation, autosomal dominant 12
mental retardation, autosomal dominant 15
mental retardation, autosomal dominant 14
mental retardation, autosomal dominant 17
mental retardation, autosomal dominant 16
hyperparathyroidism, familial primary
{diabetes mellitus, insulin-dependent, 17}
hemochromatosis, type 2b
hemochromatosis, type 2a
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome
chromosome 17q21.31 duplication syndrome
chorea, hereditary benign
chrondrodysplasia, acromesomelic, with genital anomalies
[hypohaptoglobinemia]
{atrial fibrillation, familial, 5}
{hashimoto thyroiditis} An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
[blood group, swann]
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.
beare-stevenson cutis gyrata syndrome OMIM mapping confirmed by DO. [SN].
hyperparathyroidism 3
{chronic infections, due to mbl deficiency}
{diabetes mellitus, insulin-dependent, 4}
birt-hogg-dube syndrome OMIM mapping confirmed by DO. [SN].
polydactyly, preaxial type ii
[skin/hair/eye pigmentation 6, blond/brown hair]
{nasopharyngeal carcinoma, susceptibility to, 2}
[high density lipoprotein cholesterol level qtl 4]
scapuloperoneal syndrome, neurogenic, kaeser type
{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.
deafness, x-linked 1, progressive
{pelvic organ prolapse, susceptibility to, 2}
{stature qtl 17}
myopathy, spheroid body
[tuberculin skin test reactivity, absence of]
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
{?hypertension, essential}
macrocephaly, alopecia, cutis laxa, and scoliosis
long qt syndrome 12
long qt syndrome 13
lysyl hydroxylase 3 deficiency
{melioidosis, susceptibilty to}
rhabdomyolysis, cerivastatin-induced
von willebrand disease, types 2a, 2b, 2m, and 2n
jervell and lange-nielsen syndrome 2
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).
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
megalencephalic leukoencephalopathy with subcortical cysts 2a
thyroid hormone resistance OMIM mapping confirmed by DO. [LS].
fascioscapulohumeral muscular dystrophy 2, digenic
spastic paraplegia 13, autosomal dominant
hand-foot-uterus syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
enlarged vestibular aqueduct OMIM mapping confirmed by DO. [SN].
{pancreatic cancer, susceptibility to, 3}
incontinentia pigmenti, type ii
{pregnancy loss, susceptibility to}
mucopolysaccharidosis ii A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
scid, autosomal recessive, t-negative/b-positive type
dystonia 6, torsion
mucopolysaccharidosis is
{hypertension, essential, salt-sensitive}
chromosome 4q21 deletion syndrome
?eagle-barrett syndrome
combined c6/c7 deficiency
mental retardation, x-linked 84
polymicrogyria, symmetric or asymmetric
mental retardation, x-linked 81
mental retardation, x-linked 82
{venous thrombosis, protection against}
intestinal atresia, multiple
mental retardation, x-linked 89
{inflammatory bowel disease 23}
polymicrogyria with seizures
?myosclerosis, congenital
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.
mental retardation, autosomal recessive 28
mental retardation, autosomal recessive 29
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.
mental retardation, autosomal recessive 23
mental retardation, autosomal recessive 27
mental retardation, autosomal recessive 24
mental retardation, autosomal recessive 25
{pulmonary disease, chronic obstructive, susceptibility to}
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.
{menopause, natural, age at, qtl2}
dystonia-17, primary torsion
[blood group, rodgers]
?immunodeficiency 37
colorectal cancer with chromosomal instability, somatic
thrombocytopenia 2
thrombocytopenia 4
hypouricemia, renal
{malaria, cerebral, susceptibility to}
achromatopsia 6
alzheimer disease 8
{malignant hyperthermia susceptibility 6}
alzheimer disease 6
hypophosphatasia, childhood
liddle syndrome OMIM mapping confirmed by DO. [SN].
epilepsy, progressive myoclonic 3, with or without intracellular inclusions
newfoundland rod-cone dystrophy
cone dystrophy-3
{high density lipoprotein cholesterol, low serum, 3}
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.
[skin/hair/eye pigmentation 3, blue/green eyes]
palmoplantar keratoderma, bothnian type
lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
{colon cancer, susceptibility to}
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
{pemphigoid, susceptibility to}
mandibulofacial dysostosis, guion-almeida type
mental retardation with language impairment and autistic features
van maldergem syndrome 2
{major affective disorder 5}
{systemic lupus erythematosus susceptibility to}
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
leiomyoma, uterine, somatic
{diabetes mellitus, insulin-dependent, 23}
{spina bifida, folate-sensitive, susceptibility to}
spondylocostal dysostosis 1, autosomal recessive
achromatopsia-4
{malaria, susceptibility to}
achromatopsia-3
achromatopsia-2
{coronary artery spasm 2, susceptibility to
mody, type iii
[phosphohydroxylysinuria]
dystonia-parkinsonism, x-linked
paget disease, juvenile
pseudohypoparathyroidism ib
pseudohypoparathyroidism ic
pseudohypoparathyroidism ia
spastic paraplegia 5a, autosomal recessive
epilepsy, idiopathic generalized, susceptibility to, 5
{prostate cancer, hereditary, 7}
pigment disorder, reticulate
neuronopathy, distal hereditary motor, type vi
?epiphyseal dysplasia, multiple, 6
{hypogonadotropic hypogonadism 15 with or without anosmia}
[blood group, colton]
?microtia, hearing impairment, and cleft palate (ar)
fanconi renotubular syndrome 2
spondyloperipheral dysplasia
[placental lactogen deficiency]
cholestasis, progressive canalicular
{craniosynostosis 5, susceptibility to}
ulnar-mammary syndrome
epidermolysis bullosa, junctional, non-herlitz type
[anhaptoglobinemia]
alpha-1-antichymotrypsin deficiency
retinitis pigmentosa 1 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
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.
retinitis pigmentosa 3
{breast-ovarian cancer, familial, 1}
spastic paraplegia 12, autosomal dominant
myotonia levior, recessive
mucopolysaccharidosis iva
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.
nor polyagglutination syndrome
purpura, posttransfusion
{lupus nephritis, susceptibility to}
[kallikrein, decreased urinary activity of]
{sarcoidosis, susceptibility to, 3}
capos syndrome
{patent ductus arteriosus, susceptibility to}
{osteoporosis, postmenopausal} 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.
microcephaly, amish type
noonan-like syndrome with loose anagen hair
amyloidosis, renal
?polydactyly, postaxial, type a6
dystonia 4, torsion, autosomal dominant
{graft-versus-host disease, protection against}
{hepatic fibrosis susceptibility due to schistosoma mansoni infection}
macrothrombocytopenia, autosomal dominant, tubb1-related
{asthma, susceptibility to, 2}
factor xiiib deficiency
platelet glycoprotein iv deficiency
{alzheimer disease-13}
?heterotaxy, visceral, 3, autosomal
hyperlipoproteinemia, type 1d
{hiv-1, resistance to}
?rolandic epilepsy, mental retardation, and speech dyspraxia
c4b deficiency
bone mineral density qtl18, osteoporosis
?mitochondrial complex (atp synthase) deficiency, nuclear type 4
{major depressive disorder, response to citalopram therapy in}
hyperlipoproteinemia, type iii
{autoimmune disease, susceptibility to, 3}
gm1-gangliosidosis, type iii
{dyslexia, susceptibility to, 6}
occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
[neutral endopeptidase deficiency]
charcot-marie-tooth disease, dominant intermediate f
charcot-marie-tooth disease, dominant intermediate e
charcot-marie-tooth disease, dominant intermediate d
charcot-marie-tooth disease, dominant intermediate c
charcot-marie-tooth disease, dominant intermediate b
charcot-marie-tooth disease, dominant intermediate a
pontocerebellar hypoplasia, type 2e NT MGI.
pitt-hopkins-like syndrome 2
thalassemia-beta, dominant inclusion-body
pyruvate dehydrogenase lipoic acid synthetase deficiency
hydatidiform mole, recurrent, 2
hydatidiform mole, recurrent, 1
congenital disorder of glycosylation, type ih
congenital disorder of glycosylation, type ii A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
congenital disorder of glycosylation, type ij
congenital disorder of glycosylation, type ik
congenital disorder of glycosylation, type il
congenital disorder of glycosylation, type im
brachydactyly, type a1, b
brachydactyly, type a1, c
gitelman syndrome OMIM mapping confirmed by DO. [SN].
congenital disorder of glycosylation, type ia Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.
congenital disorder of glycosylation, type ib
congenital disorder of glycosylation, type ic
congenital disorder of glycosylation, type id
congenital disorder of glycosylation, type ie
congenital disorder of glycosylation, type if
congenital disorder of glycosylation, type ig
3-methylcrotonyl-coa carboxylase 1 deficiency
?ptosis, congenital
congenital disorder of glycosylation, type iq
?olmsted syndrome, x-linked
congenital disorder of glycosylation, type it
congenital disorder of glycosylation, type iu
congenital disorder of glycosylation, type iv
mental retardation, autosomal dominant 30
mental retardation, autosomal dominant 9
mental retardation, autosomal dominant 8
mental retardation, autosomal dominant 1
mental retardation, autosomal dominant 3
mental retardation, autosomal dominant 2
mental retardation, autosomal dominant 5
mental retardation, autosomal dominant 4
mental retardation, autosomal dominant 7
mental retardation, autosomal dominant 6
myopathy with extrapyramidal signs
glycine n-methyltransferase deficiency
leukemia, acute myeloid, with eosinophilia
shaheen syndrome
spinal muscular atrophy, distal, autosomal recessive, 4
spinal muscular atrophy, distal, autosomal recessive, 5
peroxisome biogenesis disorder 5a (zellweger)
sebastian syndrome
[blood group, knops system]
diabetes mellitus, neonatal, with congenital hypothyroidism
phospholipase a2, group iv a, deficiency of
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.
{asthma susceptibility 5}
striatal degeneration, autosomal dominant
melanoma and neural system tumor syndrome
deafness, autosomal recessive 74
adenocarcinoma of lung, response to tyrosine kinase inhibitor in
clove syndrome, somatic
leukemia, acute myeloid, reduced survival in
[high density lipoprotein cholesterol level qtl 2]
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
thrombocythemia 2
thrombocythemia 3
chromosome 6pter-p24 deletion syndrome
macular degeneration, early-onset
{atopy, resistance to}
heinz body anemias, alpha-
polyhydramnios, megalencephaly, and symptomatic epilepsy
{melanoma, cutaneous malignant, 4}
{stature qtl 15}
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.
craniosynostosis, type 1
craniosynostosis, type 2
glycogen storage disease iiia
glycogen storage disease iiib
enhanced s-cone 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).
cataract 5, multiple types
cataract 36
short-rib thoracic dysplasia 10 with or without polydactyly
intrinsic factor deficiency
[bone mineral density variability 1]
epilepsy, progressive myoclonic 2b (lafora)
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
ptosis, hereditary congenital, 1
{autism susceptibility 6}
nance-horan syndrome
{leukemia, acute myeloid, susceptibility to}
acampomelic campomelic dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
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)
hyperlipoproteinemia, type ib
{pancreatic cancer, susceptibility to, 1}
[uric acid concentration, serum, qtl5]
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.
thrombophilia due to hrg deficiency
ehlers-danlos syndrome, progeroid type, 1
ehlers-danlos syndrome, progeroid type, 2 An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
bamforth-lazarus syndrome OMIM mapping confirmed by DO. [SN].
{systemic lupus erythematosus, susceptibility to, 4}
thrombophilia due to thrombomodulin defect
microcephaly-capillary malformation syndrome
[skin/hair/eye pigmentation, variation in, 8]
spondylocostal dysostosis 2, autosomal recessive
severe combined immunodeficiency due to il2 deficiency
brain small vessel disease with or without ocular anomalies
{basal cell carcinoma, susceptibility to, 6}
angioedema, hereditary, type iii
myelofibrosis, somatic
chromosome 15q26-qter deletion syndrome
mental retardation, x-linked, snyder-robinson type
?spinocerebellar ataxia, autosomal recessive 15
?spinocerebellar ataxia, autosomal recessive 17
branchiootorenal syndrome 2
cystathioninuria An elevated urinary concentration of cystathionine.
adenomas, multiple colorectal
amyloidosis, 3 or more types
herpes simplex encephalitis, susceptibility to, 1
progressive external ophthalmoplegia, autosomal dominant, 3
?sarcoma, synovial
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.
{malignant hyperthermia susceptibility 4}
{obesity, susceptibility to, bmiq11}
{von hippel-lindau syndrome, modifier of}
amelogenesis imperfecta, type iii
?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.
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
autoimmune lymphoproliferative syndrome, type ib
autoimmune lymphoproliferative syndrome, type ia
porphyria cutanea tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
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.
autoimmune lymphoproliferative syndrome, type ii
trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair.
{colorectal cancer, susceptibility to, 3}
opitz gbbb syndrome, type i
skeletal defects, genital hypoplasia, and mental retardation
{aerodigestive tract cancer, squamous cell, alcohol-related, protection against}
glaucoma 1, open angle, 1o
{asthma, nocturnal, susceptibility to}
paragangliomas 1, with or without deafness
cardiomyopathy, dilated 1c
cardiomyopathy, dilated 1b
polycystic kidney disease 2
choreoacanthocytosis
{inflammatory bowel disease 9}
abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
mental retardation, x-linked 30/47
paroxysmal nonkinesigenic dyskinesia
{alkaline phosphatase, plasma level of, qtl4}
glaucoma 1b, primary open angle, adult onset,
{glioma susceptibility 6}
{osteoarthritis-5}
currarino syndrome
aural atresia, congenital
{fibrocalculous pancreatic diabetes, susceptibility to}
{pulmonary fibrosis, telomere-related, 1}
bothnia retinal dystrophy OMIM mapping confirmed by DO. [SN].
digital arthropathy-brachydactyly, familial
{spondyloarthropathy, susceptibility to, 2}
progressive familial heart block, type ib
{hirschsprung disease, susceptibility to, 2}
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.
campomelic dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
renal hypodysplasia/aplasia 1
?mental retardation, x-linked syndromic 10
{dermatitis, atopic, susceptibility to, 1}
caudal regression syndrome
thrombocytopenia, x-linked
pituitary adenoma, acth-secreting
pulmonary hypertension, primary, 2
pulmonary hypertension, primary, 4
sotos syndrome 1
cataract, juvenile, with microcornea and glucosuria
sotos syndrome 2
migraine, familial basilar
?spastic paraplegia 72, autosomal dominant
koolen-de vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
coproporphyria
keratoconus 8
keratoconus 5
keratoconus 4
keratoconus 7
keratoconus 6
deafness, autosomal recessive 18a
keratoconus 3
deafness, autosomal recessive 18b
hypocalcemia, autosomal dominant
pseudoxanthoma elasticum, forme fruste
optic atrophy 6
optic atrophy 5
chromosome xp11.23-p11.22 duplication syndrome
optic atrophy 1
naxos disease
ventricular tachycardia, catecholaminergic polymorphic, 1
ventricular tachycardia, catecholaminergic polymorphic, 3
ventricular tachycardia, catecholaminergic polymorphic, 2
nonsmall cell lung cancer, somatic
ventricular tachycardia, catecholaminergic polymorphic, 4
{alcohol dependence, protection against}
muscular dystrophy, congenital, megaconial type
seizures, benign neonatal, 1
leukemia, acute pre-b-cell
triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
myopathy, myofibrillar, 2
night blindness, congenital stationary, autosomal dominant 3
night blindness, congenital stationary, autosomal dominant 2
supranuclear palsy, progressive, 3
supranuclear palsy, progressive, 2
diabetes insipidus, neurohypophyseal
watson syndrome
aminoacylase 1 deficiency
adenosine triphosphate, elevated, of erythrocytes Autosomal dominant phenotype characterized by increase of red blood cell ATP.
chromosome 17q12 deletion syndrome
immunodeficiency 31a, mycobacteriosis, autosomal dominant
isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
{lumbar disc degeneration} A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
{coronary artery disease, autosomal dominant, 2}
diarrhea 4, malabsorptive, congenital
metaphyseal dysplasia without hypotrichosis
?rienhoff syndrome
epidermolysis bullosa, nonspecific, autosomal recessive
{autoimmune disease, susceptibility to, 5}
[macrothrombocytopenia]
{dyslexia, susceptibility to, 8}
cataract 40, x-linked
yunis-varon syndrome
dna ligase i deficiency
plasma fibronectin deficiency
dyggve-melchior-clausen disease Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
recombination rate qtl 1
{sepsis, susceptibility to}
migraine, resistance to
diarrhea 6
thyroid dyshormonogenesis 2a
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.
{epilepsy, idiopathic generalized, 10}
{hemolytic uremic syndrome, atypical, susceptibility to, 3}
t-cell immunodeficiency, congenital alopecia, and nail dystrophy
metaphyseal chondrodysplasia, schmid type
angelman syndrome-like
burn-mckeown syndrome Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).
{hypertension, essential, susceptibility to, 7}
[skin/hair/eye pigmentation 3, light/dark/freckling skin]
peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
chromosome 18p deletion syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5
thrombophilia due to protein s deficiency, autosomal recessive
[skin/hair/eye pigmentation 9, dark/light hair]
leukemia, acute nonlymphocytic
{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.
craniofacial anomalies and anterior segment dysgenesis syndrome
aortic aneurysm, familial thoracic 4
aortic aneurysm, familial thoracic 6
aortic aneurysm, familial thoracic 7
aortic aneurysm, familial thoracic 1
aortic aneurysm, familial thoracic 2
aortic aneurysm, familial thoracic 8
aortic aneurysm, familial thoracic 9
generalized epilepsy and paroxysmal dyskinesia
malignant melanoma, somatic
amelogenesis imperfecta, type 1e
tylosis with esophageal cancer
{stature qtl 13}
spastic paraplegia 29, autosomal dominant
{breast cancer, invasive ductal}
combined oxidative phosphorylation deficiency 20
epidermolysis bullosa, junctional, with pyloric atresia
[birth weight qtl 2]
hyperparathyroidism, neonatal
epidermolysis bullosa simplex, weber-cockayne type Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
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.
lymphoma/leukemia, b-cell, variant
{melanoma, cutaneous malignant, 6}
fetal akinesia deformation sequence
glycogen storage disease 0, muscle
cardiomyopathy, dilated, 1cc
leydig cell hypoplasia with hypergonadotropic hypogonadism
de sanctis-cacchione syndrome
pyloric stenosis, infantile hypertrophic, 4
pyloric stenosis, infantile hypertrophic, 5
pyloric stenosis, infantile hypertrophic, 2
pyloric stenosis, infantile hypertrophic, 3
insomnia, fatal familial
ehlers-danlos syndrome, musculocontractural type 1
bleeding disorder due to p2rx1 defect
parietal foramina 2
parietal foramina 1
orofacial cleft 9
orofacial cleft 8
orofacial cleft 7
orofacial cleft 6
orofacial cleft 5
orofacial cleft 4
{basal cell carcinoma, susceptibility to, 4}
{bardet-biedl syndrome 14, modifier of}
{autoimmune thyroid disease, susceptibility to, 3}
?charcot-marie-tooth disease, type 2r
short-rib thoracic dysplasia 4 with or without polydactyly
pulmonary alveolar microlithiasis OMIM mapping confirmed by DO. [SN].
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.
mitochondrial dna depletion syndrome 11
leukemia, acute lymphoblastic, somatic
hailey-hailey disease OMIM mapping confirmed by DO. [SN].
hemorrhagic destruction of the brain, subependymal calcification, and cataracts
hemolytic anemia due to phosphofructokinase deficiency
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.
retinal dystrophy, early-onset severe
{breast cancer, poor survival after chemotherapy for}
developmental dysplasia of the hip 2
{malignant hyperthermia susceptibility 2}
{benzene toxicity, susceptibility to}
pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
porphyria, congenital erythropoietic
[glutaric aciduria iii]
homocystinuria, cbld type, variant 1
?retinitis pigmentosa 67
?retinitis pigmentosa 66
{microvascular complications of diabetes 2}
hutchinson-gilford progeria
angioedema, hereditary, types i and ii
{t-cell acute lymphoblastic leukemia}
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.
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.
[skin/hair/eye pigmentation 10, blond/brown hair]
microhydranencephaly
{colorectal cancer, susceptibility to, 1}
centrotemporal epilepsy
dyserythropoietic anemia, congenital, type ia
wood neuroimmunologic syndrome
{glioma susceptibility 4}
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
dyserythropoietic anemia, congenital, type ib
rett syndrome, congenital variant
deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
palmoplantar keratoderma, nonepidermolytic
{adiponectin, serum level of, qtl3}
dyserythropoietic anemia, congenital, type ii
epileptic encephalopathy, early infantile, 2
{allergic rhinitis, susceptibility to}
{migraine with aura, susceptibility to, 9}
chilblain lupus
mental retardation, anterior maxillary protrusion, and strabismus
mental retardation syndrome, x-linked, siderius type
epidermolysis bullosa simplex, koebner type Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kƶbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
robinow-sorauf syndrome
hyperkalemic periodic paralysis, type 2
spastic paraplegia 16, x-linked, complicated
cornelia de lange syndrome 2
cornelia de lange syndrome 3
goldberg-shprintzen megacolon syndrome
cornelia de lange syndrome 1
cornelia de lange syndrome 4
cornelia de lange syndrome 5
{dermatitis, atopic, susceptibility to, 3}
robin sequence with cleft mandible and limb anomalies
{esophagitis, eosinophilic, 2}
wolfram syndrome 2
leukodystrophy, hypomyelinating, 9
{hepatitis c virus, response to therapy of}
hypomagnesemia 5, renal, with ocular involvement
leukodystrophy, hypomyelinating, 3
leukodystrophy, hypomyelinating, 2
leukodystrophy, hypomyelinating, 5
leukodystrophy, hypomyelinating, 4
leukodystrophy, hypomyelinating, 6
alpha-thalassemia/mental retardation syndrome
trichohepatoenteric syndrome 2
trichohepatoenteric syndrome 1
renal hypodysplasia, nonsyndromic, 1
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.
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
smith-mccort dysplasia 2
dysautonomia, familial
iridogoniodysgenesis, type 1 An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
iridogoniodysgenesis, type 2 An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
urocanase deficiency
central hypoventilation syndrome, congenital, with or without hirschsprung disease
orofacial cleft 13
[short sleeper]
nephropathy due to cfhr5 deficiency
porokeratosis 2, palmar, plantar, and disseminated
thalassemia, alpha-
turner syndrome-associated neurocognitive phenotype
febrile seizures, familial, 9
febrile seizures, familial, 8
mental retardation, x-linked syndromic 16
febrile seizures, familial, 5
febrile seizures, familial, 4
febrile seizures, familial, 7
febrile seizures, familial, 6
febrile seizures, familial, 1
wiedemann-steiner syndrome
febrile seizures, familial, 2
noonan syndrome 8
noonan syndrome 5
noonan syndrome 4
noonan syndrome 7
noonan syndrome 6
noonan syndrome 1
noonan syndrome 3
?charcot-marie-tooth disease, x-linked dominant, 6
{rheumatoid arthritis, progression of}
split hand/foot malformation 2
split hand/foot malformation 1
polydactyly, postaxial, types a1 and b
serkal syndrome
porencephaly 1
porencephaly 2
diaphyseal medullary stenosis with malignant fibrous histiocytoma
[hair morphology 1, hair thickness]
parietal foramina with cleidocranial dysplasia
lymphedema, hereditary, ia
lymphedema, hereditary, ib
lymphedema, hereditary, ic
lymphedema, hereditary, id
46xy sex reversal 1
46xy sex reversal 3
46xy sex reversal 5
46xy sex reversal 6
46xy sex reversal 7
46xy sex reversal 8
fucosyltransferase 6 deficiency
?neuropathy, hereditary sensory and autonomic, type vi
ichthyosis, cyclic, with epidermolytic hyperkeratosis
{prostate cancer, susceptibility to}
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
preeclampsia/eclampsia 4
preeclampsia/eclampsia 5
preeclampsia/eclampsia 1
preeclampsia/eclampsia 2
preeclampsia/eclampsia 3
microphthalmia, isolated 8
microphthalmia, isolated 1
sickle cell anemia OMIM mapping confirmed by DO. [LS].
microphthalmia, isolated 3
microphthalmia, isolated 2
microphthalmia, isolated 5
microphthalmia, isolated 4
microphthalmia, isolated 7
microphthalmia, isolated 6
apolipoprotein a-ii deficiency
mitochondrial dna depletion syndrome 4a (alpers type)
cone-rod dystrophy 19
cone-rod dystrophy 18
cone-rod dystrophy 17
cone-rod dystrophy 16
cone-rod dystrophy 15
cone-rod dystrophy 14
cone-rod dystrophy 13
cone-rod dystrophy 12
cone-rod dystrophy 11
cone-rod dystrophy 10
{prostate cancer, hereditary, 2, susceptibility to}
{diabetes mellitus, noninsulin-dependent, association with}
charcot-marie-tooth disease, x-linked recessive, 5
optic atrophy-4
weill-marchesani syndrome 3, recessive
hennekam lymphangiectasia-lymphedema syndrome 2
hennekam lymphangiectasia-lymphedema syndrome 1
gallbladder disease 4
l-ferritin deficiency, dominant and recessive
gallbladder disease 3
gallbladder disease 2
schizophrenia, neurophysiologic defect in
retinal degeneration, late-onset, autosomal dominant
cerebrooculofacioskeletal syndrome 4
cerebrooculofacioskeletal syndrome 2
leukemia, t-cell acute lymphoblastoid
cerebrooculofacioskeletal syndrome 1
obesity, hyperphagia, and developmental delay
neuroepithelioma
macular degeneration, age-related, 15, suscepbitility to
[obesity, resistance to]
{hypertension, essential, susceptibility to, 5}
cervical cancer, somatic
?diabetes mellitus, insulin-dependent, neonatal
vitamin k-dependent clotting factors, combined deficiency of, 1
vitamin k-dependent clotting factors, combined deficiency of, 2
myopathy, early-onset, with fatal cardiomyopathy
mungan syndrome
{osteoporosis, early-onset, susceptibility to, autosomal dominant}
{thyrotoxic periodic paralysis, susceptibility to, 1}
{male germ cell tumor, somatic}, 273300,
leukemia, acute lymphoblastic
?microcephaly 11, primary, autosomal recessive
mucopolysaccharidosis ih
spastic paraplegia 18, autosomal recessive
mehmo syndrome
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.
{asthma, susceptibility to}
gaba-transaminase deficiency
emery-dreifuss muscular dystrophy 4, autosomal dominant
hay-wells syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
periodic fever, menstrual cycle dependent
aspartate aminotransferase, serum level of, qtl1
{hypertriglyceridemia, susceptibility to}
retinitis pigmentosa-40
{stature qtl 11}
?microhydranencephaly
weaver syndrome OMIM mapping confirmed by DO. [LS].
hypoinsulinemic hypoglycemia with hemihypertrophy
[dopamine-beta-hydroxylase activity levels, plasma]
specific language impairment qtl, 1
microcoria, congenital
specific language impairment qtl, 3
cardiomyopathy, dilated, 1ee
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.
hepatocellular carcinoma, childhood type
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
combined hyperlipidemia, familial
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.
?periventricular nodular heterotopia 6
hypofibrinogenemia, congenital
woolly hair, autosomal dominant
{aspergillosis, susceptibility to}
cholangitis, primary sclerosing
keratosis palmoplantaris striata iii
estrogen resistance
{breast cancer, susceptibility to}
[junior blood group system]
?acat2 deficiency
hypogonadotropic hypogonadism 14 with or without anosmia
{basal cell carcinoma, susceptibility to, 2}
mental retardation, autosomal recessive 40
wagro syndrome
mental retardation, autosomal recessive 44
mental retardation, autosomal recessive 46
{leukemia, acute myeloid}
peroxisome biogenesis disorder 13a (zellweger)
?neutrophilia, hereditary
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.
renal-hepatic-pancreatic dysplasia 1
neuropathy, hereditary sensory, with spastic paraplegia
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
anisomastia
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.
{stevens-johnson syndrome, susceptibility to}
leukoencephalopathy, diffuse hereditary, with spheroids
megaloblastic anemia due to dihydrofolate reductase deficiency
trichothiodystrophy, nonphotosensitive 1
thrombophilia due to protein s deficiency, autosomal dominant
epidermolysis bullosa pruriginosa
immunodeficiency, x-linked, with hyper-igm
osteopetrosis, autosomal recessive 3, with renal tubular acidosis
{coronary heart disease, susceptibility to, 2}
{microvascular complications of diabetes 4}
joubert syndrome 2
ectodermal dysplasia 6, hair/nail type
joubert syndrome 1
joubert syndrome 6
joubert syndrome 7
joubert syndrome 4
joubert syndrome 5
ataxia with isolated vitamin e deficiency Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
joubert syndrome 9
hydrocephalus, nonsyndromic, autosomal recessive 2
{inflammatory bowel disease 5}
favism A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
[longevity 1]
{colorectal cancer, susceptibility to, 7}
succinyl coa:3-oxoacid coa transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
cataract 9, multiple types
hystrix-like ichthyosis with deafness
cerebral creatine deficiency syndrome 1
mitochondrial complex iv deficiency OMIM mapping confirmed by DO. [SN].
polyposis, juvenile intestinal
{biliary cirrhosis, primary, 3}
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
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.
{macular degeneration, age-related, 14, reduced risk of}
dystonia 9
cataract with late-onset corneal dystrophy
{epilepsy, juvenile myoclonic, susceptibility to}
glaucoma 1a, primary open angle
aortic aneurysm, familial abdominal 1 An aortic aneurysm that is located_in the abdominal aorta.
aortic aneurysm, familial abdominal 2
{major affective disorder-8, susceptibility to}
{stature qtl 3}
myopia, high, with cataract and vitreoretinal degeneration
waardenburg syndrome, type 2e, with or without neurologic involvement
ivic syndrome IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
?polymicrogyria, bilateral temporooccipital
?sneddon syndrome
{atrioventricular septal defect, susceptibility to, 1}
spastic paraplegia 32, autosomal recessive
chronic granulomatous disease, autosomal, due to deficiency of cyba
gaucher disease, type iii
deafness, autosomal recessive 51
deafness, autosomal recessive 53
deafness, autosomal recessive 55
deafness, autosomal recessive 59
cardiomyopathy, dilated, 2a
popliteal pterygium syndrome 2, lethal type
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1
ehlers-danlos syndrome, type i
?isolated growth hormone deficiency due to defect in ghrf
{glaucoma, normal tension, susceptibility to}
dermatofibrosarcoma protuberans A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
maturity-onset diabetes of the young, type viii
ocular albinism, type i, nettleship-falls type
{otitis media, susceptibility to}
familial cold-induced inflammatory syndrome 1
cataract 30, pulverulent
immunodeficiency, isolated
basal laminar drusen OMIM mapping confirmed by DO. [SN].
{hodgkin lymphoma, susceptibility to}
ectodermal dysplasia/short stature syndrome
deafness, autosomal recessive 5
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
{dermatitis, atopic, susceptibility to, 5}
okt4 epitope deficiency
brugada syndrome 7
brugada syndrome 6
brugada syndrome 5
brugada syndrome 4
brugada syndrome 3
?otofaciocervical syndrome
brugada syndrome 1
episodic ataxia, type 3 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
episodic ataxia, type 2 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
episodic ataxia, type 7 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
episodic ataxia, type 6 Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
episodic ataxia, type 5 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.
brugada syndrome 8
adrenal adenoma, somatic
dystonia 13, torsion
{organophosphate poisoning, sensitivity to}
mental retardation, x-linked, fraxe type
cognitive impairment with or without cerebellar ataxia
hepatic venoocclusive disease with immunodeficiency
short-rib thoracic dysplasia 6 with or without polydactyly
maple syrup urine disease, mild variant
epileptic encephalopathy, early infantile, 24
epileptic encephalopathy, early infantile, 25
epileptic encephalopathy, early infantile, 26
epileptic encephalopathy, early infantile, 27
neuromyotonia and axonal neuropathy, autosomal recessive
epileptic encephalopathy, early infantile, 23
vesicoureteral reflux 2
vesicoureteral reflux 3
immunodeficiency 24
immunodeficiency 23
vesicoureteral reflux 7
vesicoureteral reflux 4
immunodeficiency 20
vesicoureteral reflux 8
{colorectal cancer, susceptibility to, 11}
[visuospatial/perceptual abilities]
porphyria, acute hepatic
{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.
congenital bilateral absence of vas deferens
febrile seizures, familial, 11
febrile seizures, familial, 10
mitochondrial dna depletion syndrome 6 (hepatocerebral type)
neuropathy, hereditary sensory and autonomic, type ia
neuropathy, hereditary sensory and autonomic, type ic
[chitotriosidase deficiency]
{hepatitis b virus, susceptibility to}
neuropathy, hereditary sensory and autonomic, type ii
?ragweed sensitivity
spastic paraplegia 53, autosomal recessive
otosclerosis 8
otosclerosis 7
otosclerosis 5
otosclerosis 3
otosclerosis 2
otosclerosis 1
polydactyly, postaxial, type a3
polydactyly, postaxial, type a5
polydactyly, postaxial, type a4
ectopia lentis, isolated, autosomal recessive
copd, rate of decline of lung function in
microcephaly, postnatal progressive, with seizures and brain atrophy
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.
heterotaxy, visceral, 6, autosomal recessive
scalp-ear-nipple syndrome
{lung cancer susceptibility 5}
ulna and fibula, absence of, with severe limb deficiency
trichilemmal cyst 1
{hypertension, essential, susceptibility to, 3}
{glioblastoma 3}
cataract 22, autosomal recessive
central hypoventilation syndrome
rieger or axenfeld anomalies
[glyoxalase ii deficiency]
{preeclampsia, susceptibility to}
[skin/hair/eye pigmentation 6, blue/green eyes]
multiple endocrine neoplasia iib
alternating hemiplegia of childhood 2
multiple endocrine neoplasia iia
{sick sinus syndrome 3}
muscular dystrophy, limb-girdle, type 2c
corneal dystrophy, congenital stromal
leopard syndrome 2
leopard syndrome 3
leopard syndrome 1
oguchi disease-2
oguchi disease-1
mental retardation syndrome, x-linked, armfield type
46,xy sex reversal 9
[blood group, raph]
deafness, autosomal dominant 47
{migraine, susceptibility to}
colorectal cancer, hereditary nonpolyposis, type 7
pierre robin syndrome
du pan syndrome An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
brachiootic syndrome 3
[fasting plasma glucose level qtl 5]
deafness, cataract, retinitis pigmentosa, and sperm abnormalities
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.
epilepsy, partial, with pericentral spikes
diabetes mellitus, transient neonatal 2
porokeratosis 3, disseminated superficial actinic
hypogonadotropic hypogonadism 10 with or without anosmia
craniofacial-skeletal-dermatologic dysplasia
{melanoma, cutaneous malignant, 2}
{autism susceptibility 8}
thrombophilia due to heparin cofactor ii deficiency
adrenomyeloneuropathy, adult
epilepsy, familial temporal lobe, 5
epilepsy, familial temporal lobe, 4
epilepsy, familial temporal lobe, 6
epilepsy, familial temporal lobe, 1
[skin/hair/eye pigmentation 5, black/nonblack hair]
epilepsy, familial temporal lobe, 2
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.
hirschsprung disease, cardiac defects, and autonomic dysfunction
ciliary dyskinesia, primary, 28
[hemoglobin, high altitude adaptation]
microcephaly 5, primary, autosomal recessive
ciliary dyskinesia, primary, 22
ciliary dyskinesia, primary, 23
ciliary dyskinesia, primary, 20
ciliary dyskinesia, primary, 21
ciliary dyskinesia, primary, 26
ciliary dyskinesia, primary, 27
ciliary dyskinesia, primary, 24
ciliary dyskinesia, primary, 25
myopathy, distal, 4
hermansky-pudlak syndrome 8
hermansky-pudlak syndrome 9
hermansky-pudlak syndrome 4
hermansky-pudlak syndrome 5
hermansky-pudlak syndrome 6
epidermolysis bullosa simplex-mp
hermansky-pudlak syndrome 1
hermansky-pudlak syndrome 2
hermansky-pudlak syndrome 3
{deep venous thrombosis, protection against}
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
sebaceous tumors, somatic
obesity, morbid, due to leptin receptor deficiency
moyamoya disease 3
moyamoya disease 4
hyperprolinemia, type ii
cerebral cavernous malformations 3
focal cortical dysplasia, taylor balloon cell type
{systemic lupus erythematosus, susceptibility to, 2}
angiofibroma, somatic
cardiomyopathy, familial hypertrophic, 19
cardiomyopathy, familial hypertrophic, 18
cardiomyopathy, familial hypertrophic, 11
cardiomyopathy, familial hypertrophic, 10
cardiomyopathy, familial hypertrophic, 13
cardiomyopathy, familial hypertrophic, 12
cardiomyopathy, familial hypertrophic, 15
cardiomyopathy, familial hypertrophic, 14
{anorexia nervosa, susceptibility to, 1}
cardiomyopathy, familial hypertrophic, 16
{scoliosis, idiopathic, susceptibility to, 4}
macrothrombocytopenia and progressive sensorineural deafness
[body mass index qtl1]
acth-independent macronodular adrenal hyperplasia 2
cr1 deficiency
thanatophoric dysplasia, type i
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
small-cell cancer of lung
metacarpal 4-5 fusion
{microvascular complications of diabetes 6}
{encephalopathy, acute, infection-induced, 3, susceptibility to}
spastic paraplegia 19, autosomal dominant
anterior segment mesenchymal dysgenesis
hypoparathyroidism, x-linked
?mental retardation, x-linked, syndromic 12
hypogonadotropic hypogonadism 3 with or without anosmia
orofaciodigital syndrome vi
majeed syndrome
gaucher disease, type iiic
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 4
van maldergem syndrome 1
insulin resistance, severe, digenic
aicardi-goutieres syndrome 5
hypobetalipoproteinemia, familial, 2
?retinitis pigmentosa 23
hypogonadism, hypergonadotropic
mandibuloacral dysplasia
{coronary heart disease, susceptibility to, 4}
{seasonal affective disorder, susceptibility to}
?glycoprotein ia deficiency
pancreatitis, hereditary
{colorectal cancer, susceptibility to, 5}
{inflammatory bowel disease 7}
spastic ataxia 2, autosomal recessive
renal cell carcinoma, papillary
krabbe disease, atypical
{autism susceptibility, x-linked 4}
{graves disease, susceptibility to, x-linked}
spastic ataxia 3, autosomal recessive
{glioma susceptibility 8}
multiple pterygium syndrome, lethal type
hypercholesterolemia, due to ligand-defective apo b
amyotrophic lateral sclerosis 18 A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
amyotrophic lateral sclerosis 19 A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
amyotrophic lateral sclerosis 12 A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
{lewy body dementia, susceptibility to}
amyotrophic lateral sclerosis 11 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
amyotrophic lateral sclerosis 17 A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
{pseudofolliculitis barbae, susceptibility to}
[skin/hair/eye pigmentation 1, blue/nonblue eyes]
cataract 3, multiple types
mucoepidermoid salivary gland carcinoma
deafness, y-linked 1
{hirschsprung disease, susceptibility to, 8}
{specific language impairment 4}
[social cognition]
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).
canavan disease OMIM mapping confirmed by DO. [SN].
hypertrichotic osteochondrodysplasia
diphenylhydantoin toxicity
usher syndrome, type 1f
{psoraisis susceptibility 9}
corneal dystrophy, lattice type iiia
usher syndrome, type 1g
leukemia-1, t-cell acute lymphocytic
usher syndrome, type 1d
3-hydroxyisobutryl-coa hydrolase deficiency
{hdl response to hormone replacement, augmented}
lethal congenital contracture syndrome 5
lethal congenital contracture syndrome 4
lethal congenital contracture syndrome 1
vitreoretinopathy, neovascular inflammatory
deafness, autosomal recessive 76
deafness, autosomal recessive 77
moyamoya 6 with achalasia
hyperparathyroidism-jaw tumor syndrome
deafness, autosomal recessive 70
deafness, autosomal recessive 71
deafness, autosomal recessive 79
tyrosinemia, type i A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
hyaline fibromatosis syndrome
{colorectal cancer, susceptibility to}
glucocorticoid deficiency, due to acth unresponsiveness
netherton syndrome OMIM mapping confirmed by DO. [SN].
thrombocytopenia, x-linked, intermittent
sars infection, protection against
{narcolepsy 5}
brain tumor-polyposis syndrome 2
?spinocerebellar ataxia 34
?spinocerebellar ataxia 30
agammaglobulinemia and isolated hormone deficiency
dentinogenesis imperfecta, shields type ii
dystonia-12 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
pontocerebellar hypoplasia type 4 NT MGI.
{dermatitis, atopic, susceptibility to, 7}
?ceroid lipofuscinosis, neuronal, 12
[fasting plasma glucose level qtl 4]
t-cell prolymphocytic leukemia, somatic
brachyolmia 4 with mild epiphyseal and metaphyseal changes
disordered steroidogenesis due to cytochrome p450 oxidoreductase
ectodermal dysplasia, ectrodactyly, and macular dystrophy
lymphoma, non-hodgkin, somatic
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodegeneration with brain iron accumulation 1 A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.
neurodegeneration with brain iron accumulation 3
paroxysmal extreme pain disorder, 167400,
brachyolmia type 3 Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis.
glaucoma 1, open angle, i
[skin/hair/eye pigmentation 2, red hair/fair skin]
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.
psychomotor retardation, epilepsy, and craniofacial dysmorphism
{neural tube defects, susceptibility to}
hepatocellular carcinoma, somatic
{multiple myeloma, susceptibility to}
?spondylocostal dysostosis 5, autosomal dominant
hypotrichosis-lymphedema-telangiectasia syndrome
epileptic encephalopathy, early infantile, 5
epileptic encephalopathy, early infantile, 4
epileptic encephalopathy, early infantile, 7
epileptic encephalopathy, early infantile, 1
epileptic encephalopathy, early infantile, 3
rhabdomyosarcoma 2, alveolar
epileptic encephalopathy, early infantile, 9
epileptic encephalopathy, early infantile, 8
warfarin sensitivity
lymphangioleiomyomatosis
retinitis pigmentosa, juvenile, autosomal recessive
haim-munk syndrome
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
craniosynostosis, nonspecific
neuropathy, congenital hypomyelinating, 1
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.
sbbyss syndrome
{kala-azar, susceptibility to, 2}
urbach-wiethe disease OMIM mapping confirmed by DO. [SN].
febrile seizures, familial, 3a
mental retardation, truncal obesity, retinal dystrophy, and micropenis
pcwh syndrome
charcot-marie-tooth disease, recessive intermediate, a
epilespy, generalized, with febrile seizures plus, type 8
syndactyly, type v
nephronophthisis-like nephropathy 1
ring dermoid of cornea
centronuclear myopathy 5
[hematocrit/hemoglobin quantitative trait locus 3]
stiff skin syndrome
pseudopseudohypoparathyroidism OMIM mapping confirmed by DO. [SN].
cardiomyopathy, familial hypertrophic 17
heart block, nonprogressive
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
{migraine without aura, susceptibility to}
{hypertension, essential, susceptibility to, 1}
treacher collins syndrome 1
treacher collins syndrome 2
treacher collins syndrome 3
immunodeficiency 27b, mycobacteriosis, ad
syndactyly, type 1
[dysalbuminemic hyperthyroxinemia]
dementia, familial danish
mohr-tranebjaerg syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
hypogonadotropic hypogonadism 8 with or without anosmia
{pelvic organ prolapse, susceptibility to, 1}
2-aminoadipic 2-oxoadipic aciduria
polyposis syndrome, hereditary mixed, 2
erythrocyte lactate transporter defect
obesity, mild, early-onset
insensitivity to pain, congenital, with anhidrosis
{breast cancer, male, susceptibility to}
osteogenesis imperfecta, type vi
natural killer cell and glucocorticoid deficiency with dna repair defect
caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability.
{osteoarthritis susceptibility 3}
colorectal cancer, hereditary nonpolyposis, type 8
colorectal cancer, hereditary nonpolyposis, type 6
ldl cholesterol level qtl2
colorectal cancer, hereditary nonpolyposis, type 4
colorectal cancer, hereditary nonpolyposis, type 5
colorectal cancer, hereditary nonpolyposis, type 2
colorectal cancer, hereditary nonpolyposis, type 1
cardiomyopathy, familial hypertrophic 6
muir-torre syndrome OMIM mapping confirmed by DO. [SN].
diastrophic dysplasia, broad bone-platyspondylic variant
[c-reactive protein qtl]
17-alpha-hydroxylase/17,20-lyase deficiency
{menarche, age at, qtl3}
spinal muscular atrophy with progressive myoclonic epilepsy
cleft lip/palate-ectodermal dysplasia syndrome Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
{opioid dependence, susceptibility to}
[skin/hair/eye pigmentation 7, blond/brown hair]
{kawasaki disease, susceptibility to}
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.
[body mass index qtl3]
anemia, sideroblastic, with ataxia
neuronopathy, distal hereditary motor, type vb
spastic paraplegia 33, autosomal dominant
pancreatic lipase deficiency
muscular dystrophy, congenital, due to partial lama2 deficiency
mast cell disease
metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
glaucoma 1, open angle, p
spastic paraplegia 64
glaucoma 1, open angle, h
cone-rod dystrophy, x-linked, 1
glaucoma 1, open angle, m
glaucoma 1, open angle, n
glaucoma 1, open angle, e
glaucoma 1, open angle, f
glaucoma 1, open angle, g
?cataract 41
?cataract 42
porphyria, hepatoerythropoietic
leukemia, megakaryoblastic, with or without down syndrome, somatic
carasil syndrome
hypophosphatemic rickets and hyperparathyroidism
{systemic lupus erythematosus, susceptibility to, 12}
ewing sarcoma A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
crash 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.
alpha-2-macroglobulin deficiency
spinal muscular atrophy, x-linked 2, infantile
aldosteronism, glucocorticoid-remediable
chromosome 2p16.1-p15 deletion syndrome
immunodeficiency 14
boomerang dysplasia OMIM mapping confirmed by DO. [SN].
bor-duane hydrocephalus contiguous gene syndrome
pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity.
{nephrolithiasis, uric acid, susceptibility to}
erythremias, beta-
{coronary heart disease, susceptibility to, 6}
neuronopathy, distal hereditary motor, type viia
dicarboxylic aminoaciduria
leprechaunism OMIM mapping confirmed by DO. [SN].
medullary thyroid carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells.
parkinson disease 19, juvenile-onset
leydig cell hypoplasia with pseudohermaphroditism
t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
fanconi renotubular syndrome 1
ciliary dyskinesia, primary, 4
{malaria, mild, susceptibility to}
{inflammatory bowel disease 1}
hemorrhagic diathesis due to 'antithrombin' pittsburgh
renal agenesis
hyperoxaluria, primary, type ii
{dengue fever, protection against}
[axillary odor, variation in]
{myocardial infarction, susceptibility to}
breast cancer, early-onset
hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
{adiponectin, serum level of, qtl5]
[blood group gil]
sea-blue histiocyte disease
immunodeficiency due to purine nucleoside phosphorylase deficiency
?congenital disorder of glycosylation, type iw
hemolytic anemia due to glutathione peroxidase deficiency
{colorectal cancer} A large intestine cancer that is located in the colon and/or located in the rectum.
interleukin 1 receptor antagonist deficiency
?congenital disorder of glycosylation, type ix
?congenital disorder of glycosylation, type iy
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
myopia 9
myopia 8
myopia 5
{hiv-1 disease, delayed progression of}
transaldolase deficiency
myopia 6
cleft palate with ankyloglossia
fazio-londe disease
frontonasal dysplasia 1
frontonasal dysplasia 2
alacrima, achalasia, and mental retardation syndrome
protoporphyria, erythropoietic, autosomal recessive
iris hypoplasia and glaucoma
aortic aneurysm, ascending, and dissection
craniolenticulosutural dysplasia
deafness, autosomal recessive 1a
deafness, autosomal recessive 1b
?microphthalmia, syndromic 13
deafness, autosomal recessive 14
deafness, autosomal recessive 15
deafness, autosomal recessive 16
deafness, autosomal recessive 17
deafness, autosomal recessive 12
deafness, autosomal recessive 13
{budd-chiari syndrome}
{low density lipoprotein cholesterol level qtl 1}
[blood group, dombrock]
methemoglobinemia, type iv
methemoglobinemia, type ii
immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive
atrichia with papular lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
retinitis pigmentosa 2
?progesterone resistance
spinocerebellar ataxia 5
spinocerebellar ataxia 6
spinocerebellar ataxia 7
spinocerebellar ataxia 1 A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
spinocerebellar ataxia 2 A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
corneal dystrophy, fuchs endothelial, 5
corneal dystrophy, fuchs endothelial, 4
corneal dystrophy, fuchs endothelial, 7
corneal dystrophy, fuchs endothelial, 6
spinocerebellar ataxia 8
warsaw breakage syndrome
corneal dystrophy, fuchs endothelial, 2
lissencephaly, x-linked
thrombophilia due to protein c deficiency, autosomal recessive
spastic paraplegia 30, autosomal recessive
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
{psoriasis susceptibility 3}
complement factor d deficiency
[fasting plasma glucose level qtl 6]
{memory impairment, susceptibility to}
{restless legs syndrome 3}
amyotrophic lateral sclerosis 2, juvenile A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
metaphyseal anadysplasia 2
antley-bixler syndrome without genital anomalies or disordered steroidogenesis
deafness, autosomal recessive 85
hemifacial microsomia A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
lacticacidemia due to pdx1 deficiency
cataract 1, multiple types
corneal dystrophy, gelatinous drop-like
hyperphosphatasia with mental retardation syndrome 2
hyperphosphatasia with mental retardation syndrome 3
hyperphosphatasia with mental retardation syndrome 1
hyperphosphatasia with mental retardation syndrome 4
glycogen storage disease ixc
?premature ovarian failure 8
cone-rod retinal dystrophy-2
cone-rod retinal dystrophy-1
pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
subcortical laminar heterotopia
spastic paraplegia 42, autosomal dominant
neurocutaneous melanosis, somatic
werner syndrome OMIM mapping confirmed by DO. [LS].
{osteoporosis, postmenopausal, susceptibility}
pick disease OMIM mapping confirmed by DO. [SN].
aromatic l-amino acid decarboxylase deficiency
tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
seizures, benign familial infantile, 4
mental retardation, x-linked, with isolated growth hormone deficiency
thyroid papillary carcinoma
seizures, benign familial infantile, 1
seizures, benign familial infantile, 2
seizures, benign familial infantile, 3
?arthrogryposis, mental retardation, and seizures
alveolar soft-part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
3mc syndrome 2
3mc syndrome 1
neutropenia, severe congenital 1, autosomal dominant
rigidity and multifocal seizure syndrome, lethal neonatal
macular dystrophy, retinal, 3
macular dystrophy, retinal, 2
fibrodysplasia ossificans progressiva .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
neuropathy, hereditary sensory, type iic
epilepsy, nocturnal frontal lobe, 5
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.
hypothyroidism, congenital, nongoitrous, 3
jalili syndrome
blepharophimosis-ptosis-intellectual disability syndrome
hypothyroidism, congenital, nongoitrous, 6
cranioectodermal dysplasia 4
cranioectodermal dysplasia 2
cranioectodermal dysplasia 3
cranioectodermal dysplasia 1
emberger syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
{obesity, susceptibility to, bmiq8}
myasthenic syndrome, fast-channel congenital
adenocarcinoma of lung, somatic
{parkinson disease, late-onset, susceptibility to}
{restless legs syndrome 6}
spermatocytic seminoma, somatic
[high density lipoprotein cholesterol level qtl 8]
myopia 23, autosomal recessive
hair, curly
adenylosuccinase 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.
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.
hypogonadotropic hypogonadism 5 with or without anosmia
?mental retardation, x-linked, syndromic, hedera type
glucose/galactose malabsorption
short-rib thoracic dysplasia 7 with or without polydactyly
manitoba oculotrichoanal syndrome
[igg receptor i, phagocytic, familial deficiency of]
?{autism susceptibility 16}
complex i, mitochondrial respiratory chain, deficiency of
{attention deficit-hyperactivity disorder, susceptibility to, 6}
?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).
{?schizophrenia, susceptibility to}
{nonsmall cell lung cancer, susceptibility to}
cardiomyopathy, dilated, with woolly hair and keratoderma
acrodermatitis enteropathica
oi type iii
?mental retardation, x-linked 91
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.
ectodermal dysplasia 3, witkop type
marshall-smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
neurodegeneration with brain iron accumulation 2b
osteogenesis imperfecta, type viii
[hematocrit/hemoglobin quantitative trait locus 1]
immunodeficiency-centromeric instability-facial anomalies syndrome-2
microcephaly, seizures, and developmental delay
lissencephaly, x-linked 2
[body mass index qtl5]
epilepsy, x-linked, with variable learning disabilities and behavior disorders
spondylometaepiphyseal dysplasia, short limb-hand type
mental retardation, x-linked 90
?microtia with or without hearing impairment (ad)
gm2-gangliosidosis, ab variant
orofacial cleft-1
orofacial cleft-2
?paroxysmal nocturnal hemoglobinuria 2
orofacial cleft-3
ectodermal dysplasia 7, hair/nail type
microphthalmia, isolated, with coloboma 7
thyroid carcinoma, nonmedullary, with cell oxyphilia
{osteoarthritis susceptibility 1}
c3 deficiency Xref MGI.
mental retardation, x-linked 98
microphthalmia, isolated, with coloboma 8
microphthalmia, isolated, with coloboma 9
?spastic paraplegia 43, autosomal recessive
?neutrophil chemotactic repsonse, abnormal
hypomagnesemia-2, renal
achondrogenesis, type ii or hypochondrogenesis
major affective disorder 4
spinal muscular atrophy-2
spinal muscular atrophy-3
spinal muscular atrophy-1
hypodysfibrinogenemia, congenital
spinal muscular atrophy-4
hypertensive nephropathy
crigler-najjar syndrome, type i
glutathioninuria
{dementia, vascular, susceptibility to}
epilepsy, childhood absence, 1
{multiple sclerosis, susceptibility to, 2}
{coronary heart disease, susceptibility to, 8}
maturity-onset diabetes of the young, type ix
xeroderma pigmentosum, group g/cockayne syndrome
?hypotrichosis and recurrent skin vesicles
{fatty liver disease, nonalcoholic, susceptibility to, 2}
anemia, x-linked, with/without neutropenia and/or platelet abnormalities
carotid intimal medial thickness 1
{bone marrow failure, telomere-related, 1}
{colorectal cancer, susceptibility to, 9}
iga nephropathy, susceptibility to, 1
neuropathy, hereditary sensory and autonomic, type iib
{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)
oculodentodigital dysplasia NT MGI.
{inflammatory bowel disease 3}
?diamond-blackfan anemia 11
miyoshi muscular dystrophy 2
chromosome 2p12-p11.2 deletion syndrome
?diamond-blackfan anemia 12
mental retardation, autosomal recessive 32
{autism, susceptibility to, 18}
hydrocephalus, nonsyndromic, autosomal recessive A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
?congenital disorder of glycosylation, type ir
carcinoid tumors, intestinal
bile acid malabsorption, primary
{macular degeneration, age-related, neovascular type}
snowflake vitreoretinal degeneration
{obesity, severe, susceptibility to, bmiq9}
peroxisome biogenesis disorder 2a (zellweger)
myopathy, myosin storage
{creutzfeldt-jakob disease, variant, resistance to}
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.
spherocytosis, hereditary, type 5
rabson-mendenhall syndrome
mental retardation, x-linked syndromic, shashi type
{diabetes mellitus, insulin-dependent, 18}
thyrotropin-releasing hormone deficiency
hypogonadotropic hypogonadism 11 with or without anosmia
hyperuricemic nephropathy, familial juvenile 1
amyotrophic lateral sclerosis 16, juvenile
myopia 7
{epilepsy, idiopathic generalized, susceptibility to, 9}
meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
{alzheimer disease 9, late onset, susceptibility to}
{nicotine dependence, protection against}
{angioedema induced by ace inhibitors, susceptibility to}
spastic paraplegia 45, autosomal recessive
native american myopathy Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
ovarioleukodystrophy
deafness, autosomal recessive 33
deafness, autosomal recessive 30
deafness, autosomal recessive 31
deafness, autosomal recessive 36
deafness, autosomal recessive 37
deafness, autosomal recessive 35
biliary cirrhosis, primary, 5
biliary cirrhosis, primary, 4
deafness, autosomal recessive 38
deafness, autosomal recessive 39
galactokinase deficiency with cataracts
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).
corneal dystrophy, posterior polymorphous, 1
corneal dystrophy, posterior polymorphous, 3
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency
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).
stickler syndrome, type iii
saccharopinuria
trifunctional protein deficiency
leukemia, acute lymphocytic
alopecia universalis
{long qt syndrome 1, acquired, susceptibility to}
{multiple system atrophy, susceptibility to}
mental retardation-hypotonic facies syndrome, x-linked
primary lateral sclerosis, juvenile
hypoparathyroidism, autosomal dominant
diaphragmatic hernia 3
arthrogryposis, distal, type 5
arthrogryposis, distal, type 3
precocious puberty, male
{encephalopathy, acute, infection-induced, 4, susceptibility to}
porphyria, acute intermittent
ovarian cancer, somatic
spastic paraplegia 25, autosomal recessive
?deafness, autosomal recessive 91
chondrocalcinosis 2
5-oxoprolinase deficiency
endotoxin hyporesponsiveness
radioulnar synostosis with amegakaryocytic thrombocytopenia
jensen syndrome A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
{breast-ovarian cancer, familial, susceptibility to, 4}
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4
{celiac disease, susceptibility to, 7}
dihydrolipoamide dehydrogenase 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.
hypogonadotropic hypogonadism 18 with or without anosmia
acromegaloid features, overgrowth, cleft palate, and hernia
cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
atrial standstill, digenic (gja5/scn5a)
{diabetes, mellitus, insulin-dependent, susceptibility to, 10}
usher syndrome, type ij
usher syndrome, type ik
tukel syndrome
tooth agenesis, selective, 5
tooth agenesis, selective, 4
tooth agenesis, selective, 6
tooth agenesis, selective, 3
supranuclear palsy, progressive atypical
spermatogenic failure, y-linked, 1
spermatogenic failure, y-linked, 2
inclusion body myopathy, autosomal recessive
arthrogryposis, lethal, with anterior horn cell disease
[hematocrit/hemoglobin quantitative trait locus 2]
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency
amish infantile epilepsy syndrome
hyperaldosteronism, familial, type iii
greenberg skeletal dysplasia
leri pleonosteosis chromosome duplication syndrome
achondrogenesis ib
meningioma, nf2-related, somatic
mucopolysaccharidisis type iiia (sanfilippo a)
osteogenesis imperfecta, type vii
?atrial fibrillation 15
{restless legs syndrome 4}
hypertriglyceridemia, transient infantile
?nephronophthisis 9
acatalasemia
exudative vitreoretinopathy 2, x-linked
myasthenic syndrome, slow-channel congenital
parkinson disease 3
parkinson disease 1
{vitamin b12 plasma level qtl1}
{myoclonic epilepsy, juvenile, susceptibility to, 1}
parkinson disease 4
parkinson disease 8
pancreatic cancer, somatic
{inflammatory bowel disease 15}
{albinism, oculocutaneous, type ii, modifier of}
precocious puberty, central, 2
hyperinsulinemic hypoglycemia, familial, 1
hyperinsulinemic hypoglycemia, familial, 2
hyperinsulinemic hypoglycemia, familial, 3
hyperinsulinemic hypoglycemia, familial, 4
hyperinsulinemic hypoglycemia, familial, 5
hyperinsulinemic hypoglycemia, familial, 7
spastic paraplegia 39, autosomal recessive
acad9 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.
perry syndrome Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
{bronchiectasis with or without elevated sweat chloride 1, modifier of}
mental retardation, autosomal recessive, 4
{malaria, vivax, protection against}
mental retardation, autosomal recessive, 6
gustavson syndrome
mental retardation, autosomal recessive, 8
naegeli-franceschetti-jadassohn syndrome
?melkersson-rosenthal syndrome OMIM mapping confirmed by DO. [SN].
?mental retardation, autosomal dominant 22
heinz body anemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.
[superoxide dismutase, elevated extracellular]
{cirrhosis, noncryptogenic, susceptibility to}
myopathy, areflexia, respiratory distress, and dysphagia, early-onset
sarcoma, synovial
{rhabdoid tumor predisposition syndrome 2}
myopathy, x-linked, with postural muscle atrophy
cone-rod dystrophy 6, 60177
hypodysfibrinogenemia
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11
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.
leigh syndrome, french-canadian type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
systemic lupus erythematosus 16
{epilepsy, idiopathic generalized, suscpetibility to, 12}
uv-sensitive syndrome 1
uv-sensitive syndrome 2
uv-sensitive syndrome 3
[sodium serum level qtl 1]
[ige levels qtl]
van buchem disease A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
{pancreatitis, chronic, susceptibility to}
hypospadias 1, x-linked
night blindness, congenital stationary (complete), 1f, autosomal recessive
peripheral arterial occlusive disease 1
spinocerebellar ataxia, autosomal recessive 7
megalocornea 1
spinocerebellar ataxia, autosomal recessive 3
spinocerebellar ataxia, autosomal recessive 2
cataract 29, coralliform
spinocerebellar ataxia, autosomal recessive 8
hepatic failure, early onset, and neurologic disorder
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
hernia, congenital diaphragmatic 1
hernia, congenital diaphragmatic 2
{major affective disorder 1}
ellis-van creveld syndrome OMIM mapping confirmed by DO. [SN].
alazami syndrome
afibrinogenemia, congenital
{diabetes mellitus, noninsulin-dependent, 2}
myelodysplasia and leukemia syndrome with monosomy 7
generalized epilepsy with febrile seizures plus, type 9
congenital disorder of glycosylation, type in
spastic paraplegia 55, autosomal recessive
congenital disorder of glycosylation, type io Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy.
ribose 5-phosphate isomerase deficiency
{cataract 28, age-related cortical, susceptibility to}
leukocyte adhesion deficiency, type iii Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.
{schizophrenia, susceptibility to, 13}
carotid intimal medial thickness
immunodeficiency 36
{multiple sclerosis, susceptibility to, 4}
{systemic lupus erythematosus, susceptibility to, 8}
porokeratosis 5, disseminated superficial actinic
chromosome 7q11.23 duplication syndrome
?roifman-chitayat syndrome
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.
ventricular septal defect 2
ventricular septal defect 3
epidermolysis bullosa simplex, sutosomal recessive 2
[blood group, waldner]
hypocalcemia, autosomal dominant 2
bjornstad syndrome OMIM mapping confirmed by DO. [SN].
spinal muscular atrophy, chronic distal, autosomal recessive
congenital disorder of glycosylation, type ip
?caudal duplication anomaly
mental retardation, autosomal recessive 30
double-outlet right ventricle OMIM mapping confirmed by DO. [SN].
congenital disorder of glycosylation, type is
multisystemic smooth muscle dysfunction syndrome
klippel-feil syndrome 2
?split-hand/foot malformation 1 with sensorineural hearing loss
hypomagnesemia 4, renal
{hemolytic uremic syndrome, atypical, susceptibility to, 1}
mucolipidosis iii gamma
acromesomelic dysplasia, maroteaux type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb.
{coronary artery disease, modifier of}
cystinosis, late-onset juvenile or adolescent nephropathic
forebrain defects
spinocerebellar ataxia 18
spinocerebellar ataxia 19
spinocerebellar ataxia 17
spinocerebellar ataxia 14
spinocerebellar ataxia 15
spinocerebellar ataxia 12
spinocerebellar ataxia 13
spinocerebellar ataxia 10
spinocerebellar ataxia 11
cone-rod dystrophy 9
cone-rod dystrophy 8
cone-rod dystrophy 3
cone-rod dystrophy 7
cone-rod dystrophy 5 A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
?epilepsy, familial adult myoclonic, 5
ehlers-danlos syndrome, type vi
corneal dystrophy, fuchs endothelial, 8
pituitary adenoma, prolactin-secreting OMIM mapping confirmed by DO. [SN].
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
omodysplasia 1
{sudden infant death syndrome, susceptibility to}
{prostate cancer, hereditary, 9}
myopia 24, autosomal dominant
?candidiasis, familial, 8
epidermolysis bullosa, lethal acantholytic
corneal dystrophy, fuchs endothelial, 1
crouzon syndrome with acanthosis nigricans
corneal dystrophy, fuchs endothelial, 3
3-beta-hydroxysteroid dehydrogenase, type ii, deficiency
{autism susceptibility, x-linked 2}
{congenital anomalies of kidney and urinary tract, susceptibility to}
{migraine, with or without aura, susceptibility to, 12}
omphalocele due to duplication of 1p31.3
forsythe-wakeling syndrome
nystagmus 2, congenital, autosomal dominant
{anorexia nervosa, susceptibility to}
immunoglobulin a deficiency 2
{pulmonary function}
focal segmental glomerulosclerosis 8
amyotrophic lateral sclerosis 3 A type of ALS with loci associated with the disease located_in chromosome 18.
spastic paraplegia 24, autosomal recessive
{?bladder cancer susceptibility}
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
neutropenia, severe congenital 3, autosomal recessive
{venous thrombosis, susceptibility to}
ehlers-danlos syndrome, type viii
ehlers-danlos syndrome, type viic
ehlers-danlos syndrome, type viib
ehlers-danlos syndrome, type viia
spondylocheirodysplasia, ehlers-danlos syndrome-like
nanophthalmos 3
nanophthalmos 2
[fasting plasma glucose level qtl 2]
autoimmune lymphoproliferative syndrome, type iii
muscular dystrophy, congenital, due to itga7 deficiency
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive
{diabetes mellitus, type 2, susceptiblity to}
{psoriasis susceptibility 7}
spastic paraplegia 28, autosomal recessive
{stroke, ischemic, susceptibility to}
nemaline myopathy 1, autosomal dominant or recessive
{mycobacterium tuberculosis, susceptibility to, 2}
charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2
orolaryngeal cancer, multiple,
interleukin-2 receptor, alpha chain, deficiency of
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.
glomerulopathy with fibronectin deposits 1
glomerulopathy with fibronectin deposits 2
{hfe hemochromatosis, modifier of}
stickler syndrome, type i
{prostate cancer, susceptibility to, 4}
?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.
long qt syndrome-11
long qt syndrome-10
{celiac disease, susceptibility to, 5}
seckel syndrome 2
seckel syndrome 1
seckel syndrome 7
seckel syndrome 5
seckel syndrome 4
?spermatogenic failure 14
heterotaxy, visceral, 1
?spermatogenic failure 13
mental retardation, x-linked 78
{hemolytic uremic syndrome, atypical, susceptibility to}
left ventricular noncompaction 8
left ventricular noncompaction 9
left ventricular noncompaction 6
left ventricular noncompaction 7
left ventricular noncompaction 4
microphthalmia with limb anomalies Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
left ventricular noncompaction 2
mental retardation, x-linked 72
cushing syndrome, acth-independent adrenal, somatic
{breast cancer, protection against}
gastrointestinal stromal tumor, somatic
anemia, hemolytic, due to umph1 deficiency
[fleck retina, familial benign]
dystonia 21
dystonia 24
dystonia 25
tremor, hereditary essential, 3
tremor, hereditary essential, 2
tremor, hereditary essential, 4
mccune-albright syndrome, somatic
growth hormone insensitivity with immunodeficiency
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
pyridoxamine 5'-phosphate oxidase deficiency 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.
{hiv type 1, susceptibility to}
cardiomyopathy, familial hypertrophic, 21
cardiomyopathy, familial hypertrophic, 22
transient erythroblastopenia of childhood
{bulimia nervosa, susceptibility to}
{restless legs syndrome 2}
rh-null disease, amorph type
{diabetes mellitus, insulin-dependent, 6}
{bleeding disorder, platelet-type, 13, susceptibility to}
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
glaucoma 3, primary congenital, d
[protein z deficiency]
glaucoma 3, primary congenital, c
narcolepsy 1
{dyskeratosis congenita, autosomal recessive 4}
ceroid lipofuscinosis, neuronal, kufs type, adult onset
norrie disease Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
myopathy, tubular aggregate
microcephaly 9, primary, autosomal recessive
lymphoproliferative syndrome 2
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige
glanzmann thrombasthenia OMIM mapping confirmed by DO. [LS].
leydig cell adenoma, somatic, with precocious puberty
dystonia, primary cervical
osteogenesis imperfecta, type xi
retinitis pigmentosa 70
{diabetes mellitus, type 2, susceptibility to}
osteogenesis imperfecta, type xv
multiple fibroadenomas of the breast
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness
{deafness, nonsyndromic, modifier 1}
short-rib thoracic dysplasia 11 with or without polydactyly
{prostate cancer, progression of}
keratosis palmoplantaris striata ii
mental retardation, autosomal recessive 3
mental retardation, autosomal recessive 2
dysfibrinogenemia, congenital
mental retardation, autosomal recessive 7
ectodermal dysplasia 5, hair/nail type
sed, maroteaux type
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.
{hiv1 infection, resistance to}
?mitochondrial complex i deficiency
spastic paraplegia 37, autosomal dominant
[blood group, scianna system]
charcot-marie-tooth disease, foot deformity of
fundus flavimaculatus
?ehlers-danlos syndrome, musculocontractural type 2
{pregnancy loss, recurrent, susceptibility to, 3}
thrombocythemia 1
waardenburg syndrome, type 4b
waardenburg syndrome, type 4c
waardenburg syndrome, type 4a
neutropenia, nonimmune chronic idiopathic, of adults
candidiasis, familial, 6, autosomal dominant
{asthma, protection against}
{nicotine addiction, protection from}
argininosuccinic aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
craniosynostosis 4
symphalangism, proximal, 1b
craniosynostosis 3
microphthalmia, syndromic 11
microphthalmia, syndromic 12
carpal tunnel syndrome, familial
c8 deficiency, type ii
lymphangioleiomyomatosis, somatic
?testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules.
atrial fibrillation, familial, 13
atrial fibrillation, familial, 12
atrial fibrillation, familial, 11
atrial fibrillation, familial, 10
atrial fibrillation, familial, 17
atrial fibrillation, familial, 16
atrial fibrillation, familial, 14
deafness, autosomal dominant 15
deafness, autosomal dominant 16
{nicotine addiction, susceptibility to}
deafness, autosomal dominant 10
deafness, autosomal dominant 11
deafness, autosomal dominant 13
deafness, autosomal dominant 18
holoprosencephaly-9
holoprosencephaly-8
holoprosencephaly-3
holoprosencephaly-2
holoprosencephaly-1
holoprosencephaly-7
holoprosencephaly-6
holoprosencephaly-5
holoprosencephaly-4
acrofacial dysostosis 1, nager type
[interleukin-6 receptor, soluble, serum level of, qtl]
chromosome 1p36 deletion syndrome
?testicular anomalies with or without congenital heart disease
filippi syndrome
fructose intolerance
{nicotine dependence, susceptibility to}
[skin/hair/eye pigmentation 2, blond hair/fair skin]
{breast cancer} A thoracic cancer that originates in the mammary gland.
?muscular dystrophy, limb-girdle, type 2r
myasthenia gravis with thymus hyperplasia
mitochondrial complex i deficiency
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
medullary thyroid carcinoma, familial
prostate cancer A male reproductive organ cancer that is located_in the prostate.
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy
hypercholesterolemia, familial, autosomal recessive
{lung cancer, protection against}
[tuberculin skin test reactivity qtl]
rhizomelic chondrodysplasia punctata, type 3
{vitiligo-associated multiple autoimmune disease susceptiblity 6}
vlcad 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.
hyperoxaluria, primary, type 1
hartnup disorder
[polyunsaturated fatty acids plasma level qtl1]
muscle glycogenosis
nail-patella syndrome OMIM mapping confirmed by DO. [SN].
peroxisome biogenesis disorder 11a (zellweger)
ataxia-telangiectasia-like disorder
spinocerebellar ataxia 35
spinocerebellar ataxia 36
craniodiaphyseal dysplasia, autosomal dominant
spinocerebellar ataxia 31
spinocerebellar ataxia 32
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
{prostate cancer, hereditary, 12}
spinocerebellar ataxia 38
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive
[sex hormone-binding blobulin circulating level qtl 1]
opremazole poor metabolizer
diamond-blackfan anemia 9
?[birbeck granule deficiency]
peroxisome biogenesis disorder 3b
{asthma, diminished response to antileukotriene treatment in}
diamond-blackfan anemia 3
diamond-blackfan anemia 2
diamond-blackfan anemia 1
diamond-blackfan anemia 7
diamond-blackfan anemia 6
diamond-blackfan anemia 5
diamond-blackfan anemia 4
carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
epiphyseal dysplasia, multiple, with myopathy
homocystinuria due to mthfr deficiency
glycogen storage disease of heart, lethal congenital
darier disease
{alcohol dependence, susceptibility to}
{hypersensitivity syndrome, carbamazepine-induced, susceptibility to}
?cardiomyopathy, dilated, 1aa
ehlers-danlos syndrome, autosomal dominant, hypermobility type
cataract 20, multiple types
stapes ankylosis with broad thumb and toes
giant axonal neuropathy-1
hypogonadotropic hypogonadism 2 with or without anosmia
severe combined immunodeficiency due to ada deficiency
deafness, autosomal dominant 8/12
{sars, progression of}
chromosome 1q21.1 duplication syndrome
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.
dystonia, myoclonic
emanuel syndrome Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities.
emery-dreifuss muscular dystrophy 2, ad
seizures, benign neonatal, type 2
dna topoisomerase i, camptothecin-resistant
ventricular fibrillation, paroxysmal familial, 2
thalassemias, alpha-
{diabetes, susceptibility to}, 222100
{schizophrenia 15}
diabetes insipidus, nephrogenic
methemoglobinemias, beta-
thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
{hirschsprung disease, susceptibility to, 3}
primary aldosteronism, seizures, and neurologic abnormalities
bruck syndrome 1
bruck syndrome 2
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
[bone mineral density qtl 11]
opitz-kaveggia 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.
neuropathy, paraneoplastic sensory
mental retardation, x-linked, syndromic 32
{pheochromocytoma, modifier of}
mitochondrial dna depletion syndrome 12 (cardiomyopathic type)
beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
{adiponectin, serum level of, qtl4}
immunodeficiency, common variable, 8, with autoimmunity
cholestasis-lymphedema syndrome
chondrodysplasia punctata, x-linked dominant
{celiac disease, susceptibility to, 3}
{epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}
septooptic dysplasia Underdevelopment of the optic nerve and absence of the septum pellucidum.
syndactyly, type iv
nemaline myopathy 8, autosomal recessive
gaucher disease, atypical
mental retardation, x-linked 52
mental retardation, x-linked 53
mental retardation, x-linked 50
3-m syndrome 3
eiken syndrome
{asthma-related traits, susceptibility to, 3}
mental retardation, x-linked 58
charcot-marie-tooth disease, type 1f
charcot-marie-tooth disease, type 1e
charcot-marie-tooth disease, type 1d
charcot-marie-tooth disease, type 1c
charcot-marie-tooth disease, type 1b
charcot-marie-tooth disease, type 1a
{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.
{bone mineral density qtl 12, osteoporosis}
branchiootic syndrome 1
{diabetes mellitus, type 1, susceptibility to}
branchiootic syndrome 2
leukemia, acute myeloid, therapy-related
hypospadias 3, autosomal
bronchiectasis with or without elevated sweat chloride 1
bronchiectasis with or without elevated sweat chloride 2
bronchiectasis with or without elevated sweat chloride 3
acromesomelic dysplasia, hunter-thompson type An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
frank-ter haar syndrome
pachyonychia congenita 4
pachyonychia congenita 2
pachyonychia congenita 3
pachyonychia congenita 1
neuronopathy, distal hereditary motor, type iid
nemaline myopathy 4, autosomal dominant
hydrocephalus with hirschsprung disease
{schwannomatosis-2, susceptibility to}
aicardi-goutieres syndrome 1, dominant and recessive
chromosome 6q25-q25 deletion syndrome
[aquaporin-1 deficiency]
trypsinogen deficiency
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.
glomerulocystic kidney disease with hyperuricemia and isosthenuria
[musical aptitude qtl 1]
niemann-pick disease, type a OMIM mapping confirmed by DO. [SN].
niemann-pick disease, type d
pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
usher syndrome, type 1d/f digenic
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii
properdin deficiency, x-linked
marfan syndrome OMIM mapping confirmed by DO. [SN].
dupuytren contracture 1
{macular degeneration, age-related, 2}
mental retardation, x-linked, syndromic, claes-jensen type
dihydropyrimidinuria Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
hypomagnesemia 1, intestinal
hyperprolinemia, type i
griscelli syndrome, type 3
griscelli syndrome, type 2
griscelli syndrome, type 1
lesch-nyhan syndrome OMIM mapping confirmed by DO. [SN].
spastic paraplegia 11, autosomal recessive
deafness, autosomal recessive
phosphoglycerate kinase 1 deficiency
waisman parkinsonism-mental retardation syndrome
toenail dystrophy, isolated
ladd syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
muscular dystrophy, rigid spine, 1
corneal dystrophy, epithelial basement membrane
leigh syndrome due to mitochondrial complex i deficiency
mast syndrome A hereditary spastic paraplegia associated with dementia.
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 54
retinitis pigmentosa 58
retinitis pigmentosa 59
hypercalciuria, absorptive
[beta-glycopyranoside tasting]
liver failure, transient infantile
?inflammatory skin and bowel disease, neonatal, 2
?inflammatory skin and bowel disease, neonatal, 1
spinocrebellar ataxia, autosomal recessive 12
brody myopathy OMIM mapping confirmed by DO. [SN].
rapadilino syndrome
inflammatory bowel disease 25, early onset, autosomal recessive
spondyloepimetaphyseal dysplasia, missouri type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
hepatoblastoma, somatic
{melanoma, cutaneous malignant, susceptibility to, 10}
schinzel-giedion midface retraction syndrome
?abruzzo-erickson syndrome
{pregnancy loss, recurrent, susceptibility to, 1}
{epilepsy, juvenile myoclonic, susceptibility to, 5}
?fetal hydantoin syndrome
arrhythmogenic right ventricular dysplasia 11
anemia, neonatal hemolytic, fatal and near-fatal
diamond-blackfan anemia 13
[memory, enhanced, qtl]
diamond-blackfan anemia 10
{diabetes mellitus, noninsulin-dependent}
panic disorder 3
panic disorder 2
{asthma, aspirin-induced, susceptibility to}
{glucocorticoid therapy, response to}
methylmalonic aciduria, mut(0) type
muscular dystrophy, congenital, merosin-positive
mental retardation, x-linked syndromic, nascimento-type
deafness, autosomal dominant 36
deafness, autosomal dominant 33
deafness, autosomal dominant 30
deafness, autosomal dominant 31
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.
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.
adenomatous polyposis coli
frontotemporal lobar degeneration, tardbp-related
cataract 33
mental retardation, x-linked 21/34
kabuki syndrome 1
kabuki syndrome 2
methionine adenosyltransferase deficiency, autosomal recessive
?deafness, x-linked 6
bare lymphocyte syndrome, type i OMIM mapping confirmed by DO. [SN].
deafness, autosomal dominant 3b
deafness, autosomal dominant 3a
nestor-guillermo progeria syndrome
{schizophrenia, susceptibility to, 17}
creatinine clearance qtl
thrombocytopenia, neonatal alloimmune
synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
meckel syndrome 10
chromosome 17q11.2 deletion syndrome, 1.4mb
neutral lipid storage disease with myopathy
{colonic adenoma recurrence, reduced risk of}
mental retardation, autosomal dominant 31
?coloboma, ocular, autosomal recessive
{epilepsy, childhood absence, susceptibility to, 2}
spondyloepiphyseal dysplasia tarda
transient bullous of the newborn
cardiomyopathy, familial hypertrophic, 9
cardiomyopathy, familial hypertrophic, 8
cardiomyopathy, familial hypertrophic, 1
cardiomyopathy, familial hypertrophic, 3
cardiomyopathy, familial hypertrophic, 2
cardiomyopathy, familial hypertrophic, 4
cardiomyopathy, familial hypertrophic, 7
{prostate cancer, hereditary, 10}
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia
congenital heart defects, nonsyndromic, 1, x-linked
osteogenesis imperfecta, type xiii
apnea, postanesthetic
edict syndrome
factor xii deficiency OMIM mapping confirmed by DO. [SN].
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
c1r/c1s deficiency, combined
phosphoserine phosphatase deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
deafness, autosomal recessive 84a
deafness, autosomal recessive 84b
peroxisome biogenesis disorder 5b
chromosome 15q25 deletion syndrome
basal cell nevus syndrome OMIM mapping confirmed by DO. [SN].
{asperger syndrome susceptibility 3}
creatine phosphokinase, elevated serum
coffin-lowry syndrome OMIM mapping confirmed by DO. [SN].
{neuroblastoma, susceptibility to, 5}
knobloch syndrome, type 1
thrombophilia due to protein c deficiency, autosomal dominant
{schizophrenia, susceptibility to, 4}
{epilepsy, idiopathic generalized, susceptibility to, 3}
antley-bixler syndrome with genital anomalies and disordered steroidogenesis
{melanoma, uveal, susceptibility to, 1}
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.
orofacial cleft 14
choroideremia, deafness, and mental retardation
orofacial cleft 12
orofacial cleft 11
orofacial cleft 10
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
?immunodeficiency 9
{glomerulosclerosis, focal segmental, 4, susceptibility to}
mammary-digital-nail syndrome Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
?myofibromatosis, infantile 2
deafness, autosomal recessive 96
deafness, autosomal recessive 93
hypophosphatemic rickets with hypercalciuria
deafness, autosomal recessive 98
{stature qtl 23}
endocrine-cerebroosteodysplasia
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis
?retinitis pigmentosa 9
{codeine sensitivity}
mody, type i
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 1
trichomegaly
{hiv-1, susceptibility to}
spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
acne inversa, familial, 3
cirrhosis due to liver phosphorylase kinase deficiency
myopathy, myofibrillar, 6
hypercalcemia, infantile
pulmonary fibrosis, idiopathic
nephronophthisis 2, infantile
3-hydroxyacyl-coa dehydrogenase deficiency
long qt syndrome 9
long qt syndrome 4
long qt syndrome 5
long qt syndrome 6
long qt syndrome 1
long qt syndrome 2
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia
endometrial cancer, familial
methylmalonic aciduria, vitamin b12-responsive
[blood group, mn]
myopathy, actin, congenital, with cores
leukoencephalopathy with ataxia
[bone mineral density qtl 13]
hypertrophic osteoarthropathy, primary, autosomal recessive 1
hypertrophic osteoarthropathy, primary, autosomal recessive 2
conotruncal heart malformations
[interleukin 6, serum level of, qtl]
telangiectasia, hereditary hemorrhagic, type 3
esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
capillary malformations, congenital, 1, somatic, mosaic
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
congenital heart defects, multiple types, 4
diabetes mellitus, permanent neonatal
combined malonic and methylmalonic aciduria
congenital heart defects, multiple types, 3
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
chromosome 1p32-p31 deletion syndrome
dermoids of cornea
[blood group, xg system]
mental retardation, x-linked, syndromic 13
mental retardation, x-linked, syndromic 17
mental retardation, x-linked, syndromic 14
?stomatocytosis i
muscular dystrophy, limb-girdle, type 2q
muscular dystrophy, limb-girdle, type 2s
ectodermal dysplasia 1, hypohidrotic, x-linked
muscular dystrophy, limb-girdle, type 2d
muscular dystrophy, limb-girdle, type 2e
muscular dystrophy, limb-girdle, type 2f
muscular dystrophy, limb-girdle, type 2g
testicular tumor, somatic
muscular dystrophy, limb-girdle, type 2a
muscular dystrophy, limb-girdle, type 2b
periodontitis 1, juvenile
muscular dystrophy, limb-girdle, type 2l
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
muscular dystrophy, limb-girdle, type 2h
muscular dystrophy, limb-girdle, type 2j
epidermolysis bullosa, pretibial
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
methylmalonic aciduria and homocystinuria, cbld type
hyperthyroidism, nonautoimmune
mannosidosis, alpha-, types i and ii
{thromboembolism, susceptibility to}
{herpes simplex encephalitis, susceptibility to, 3}
?tibial hemimelia Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
mental retardation, autosomal recessive 10/20
mitochondrial complex v (atp synthase) deficiency, nuclear type 1 A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.
mitochondrial complex v (atp synthase) deficiency, nuclear type 2 A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
arthrogryposis, renal dysfunction, and cholestasis 1
cole disease
arthrogryposis, renal dysfunction, and cholestasis 2
{leukemia, acute lymphoblastic, susceptibility to, 3}
hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
leigh syndrome A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
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.
hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells.
{macroglobulinemia, waldenstrom, susceptibility to, 2}
{septic shock, susceptibility to}
deafness, autosomal dominant 64
cataract 14, multiple types
obesity, autosomal dominant
?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.
?immunodeficiency, common variable, 11
{macular degeneration, age-related, 4}
diarrhea 1, secretory chloride, congenital
{psoriasis 15, pustular, susceptibility to}
thyroid carcinoma, papillary
preauricular tag, isolated, autosomal dominant, 1
{?schizophrenia susceptibility 18}
{coronary artery spasm 1, susceptibility to}
[inosine triphosphatase deficiency]
asplenia, isolated congenital
xeroderma pigmentosum, variant type
hyperbilirubinemia, familial transient neonatal
{inflammatory bowel disease 13}
joubert syndrome 21
joubert syndrome 20
[cinnamon odor, pleasantness of]
polymicrogyria, bilateral perisylvian
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.
venous malformations, multiple cutaneous and mucosal
rett syndrome, preserved speech variant
retinitis pigmentosa 30
retinitis pigmentosa 31
retinitis pigmentosa 32
retinitis pigmentosa 33
retinitis pigmentosa 34
retinitis pigmentosa 35
retinitis pigmentosa 36
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 39
breast cancer A thoracic cancer that originates in the mammary gland.
fanconi anemia, complementation group d1
fanconi anemia, complementation group d2
{hypertension, salt-sensitive essential, susceptibility to}
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.
thyrotropin-releasing hormone resistance, generalized
c4a deficiency
epilepsy, nocturnal frontal lobe, 3
epilepsy, nocturnal frontal lobe, 1
{rhabdoid predisposition syndrome 1}
[alpha-actinin-3 deficiency]
{west nile virus, susceptibility to}
dementia, familial, nonspecific
heart-hand syndrome, slovenian type Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
arthyrgryposis, distal, type 2b
acrodysostosis 1, with or without hormone resistance
alport syndrome, autosomal recessive
gaucher disease, perinatal lethal
myofibromatosis, infantile, 1
[high molecular weight kininogen deficiency]
{bulimia nervosa, age of onset of weight loss in}
chromosome 22q11.2 deletion syndrome, distal
bardet-biedl syndrome 9
bardet-biedl syndrome 8
bardet-biedl syndrome 5
bardet-biedl syndrome 4
bardet-biedl syndrome 7
bardet-biedl syndrome 6
bardet-biedl syndrome 1
{parkinson disease, susceptibility to}
bardet-biedl syndrome 3
bardet-biedl syndrome 2
glycosylphosphatidylinositol deficiency
hyperuricemic nephropathy, familial juvenile 2
dyskeratosis congenita, autosomal recessive 1
dyskeratosis congenita, autosomal recessive 2
dyskeratosis congenita, autosomal recessive 3
dyskeratosis congenita, autosomal recessive 5
proguanil poor metabolizer
xeroderma pigmentosum, type f/cockayne syndrome
{vitamin b6 plasma level qtl 1}
chromosome 16p11.2 deletion syndrome, 593kb
spastic paraplegia 2, x-linked
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.
aneurysmal bone cysts
deafness, autosomal recessive 8/10
?obesity, hyperphagia, and developmental delay
deafness, autosomal dominant 58
deafness, autosomal dominant 59
deafness, autosomal dominant 50
deafness, autosomal dominant 52
deafness, autosomal dominant 53
deafness, autosomal dominant 54
deafness, autosomal dominant 56
myoclonic epilepsy, juvenile, 4
cataract 19
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
?2,4-dienoyl-coa reductase deficiency
hypotrichosis, congenital, with juvenile macular dystrophy
ocular albinism with sensorineural deafness
keratosis follicularis spinulosa decalvans, x-linked
verheij syndrome
phosphoglycerate dehydrogenase deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
mean platelet volume qtl6
{ovarian cancer, susceptibility to}
mean platelet volume qtl4
mean platelet volume qtl5
hamamy syndrome
{lung cancer susceptibility}
3-methylcrotonyl-coa carboxylase 2 deficiency
nephrotic syndrome, type 10
trichorhinophalangeal syndrome, type iii
meconium ileus Obstruction of the intestine due to abnormally thick meconium.
rickets, vitamin d-resistant, type iia
metachromatic leukodystrophy due to sap-b deficiency
hypomyelination with brainstem and spinal cord involvement and leg spasticity
thrombocytopenia with beta-thalassemia, x-linked
choanal atresia and lymphedema
stormorken syndrome
ichthyosis vulgaris OMIM mapping confirmed by DO. [SN].
?stocco dos santos x-linked mental retardation syndrome
bestrophinopathy, autosomal recessive
persistent truncus arteriosus
enlarged vestibular aqueduct, digenic
dna topoisomerase ii, resistance to inhibition of, by amsacrine
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations
chromosome 15q13.3 microdeletion syndrome
gastric cancer, somatic
menkes disease OMIM mapping confirmed by DO. [SN].
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).
peroxisome biogenesis disorder 7b
maturity-onset diabetes of the young, type vii
hypophosphatemic rickets, ar
odontohypophosphatasia
lactase persistence/nonpersistence
spinal muscular atrophy, jokela type
{celiac disease, susceptibility to, 10}
[high density lipoprotein cholesterol level qtl 12]
hprt-related gout Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
carney complex, type ii
nijmegen breakage syndrome OMIM mapping confirmed by DO. [SN].
diabetes mellitus, noninsulin-dependent
peroxisome biogenesis disorder 14b
symphalangism, proximal
thrombocythemia, somatic
{asperger syndrome susceptibility 1}
gigantism due to ghrf hypersecretion
leukemia, acute myeloblastic
{rheumatoid arthritis, susceptibility to}
[premature chromatid separation trait]
choroideremia OMIM mapping confirmed by DO. [SN].
hyperuricemic nephropathy, familial juvenile, 3
{mesothelioma, somatic}
{macular degeneration, age-related, 12}
endplate acetylcholinesterase deficiency
?winchester syndrome
brachydactyly, type b1
brachydactyly, type b2
chondrodysplasia with joint dislocations, grapp type
warfarin resistance
mitchell-riley syndrome
?combined oxidative phosphorylation deficiency 19
hyperaldosteronism, familial, type ii
{hiv-1 viremia, susceptibility to}
?combined oxidative phosphorylation deficiency 16
{systemic lupus erythematosus with nephritis, susceptibility to, 2}
{major affective disorder-7, susceptibility to}
cutis laxa, ad
[bone mineral density qtl 15]
proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
nephropathy-hypertension
costello syndrome OMIM mapping confirmed by DO. [SN].
{neuroblastoma, susceptibility to, 6}
cataract 37, autosomal dominant
neuroaxonal neurodegeneration, infantile, with facial dysmophism
spherocytosis, type 4
tn polyagglutination syndrome, somatic
spherocytosis, type 1
spherocytosis, type 2
spherocytosis, type 3
lipodystrophy, familial partial, type 4
lipodystrophy, familial partial, type 3
spastic paraplegia 46, autosomal recessive
{stature qtl 21}
{?hearing loss, cisplatin-induced, susceptibility to}
dent disease 2 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.
?eec syndrome-1
{diphtheria, susceptibility to}
cataract 12, multiple types
insulinoma A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.
{intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
stickler sydrome, type i, nonsyndromic ocular
hypogonadotropic hypogonadism 20 with or without anosmia
[colostrum secretion, variation in]
leber congenital amaurosis 10
leber congenital amaurosis 11
leber congenital amaurosis 12
leber congenital amaurosis 13
leber congenital amaurosis 14
leber congenital amaurosis 15
leber congenital amaurosis 16
leber congenital amaurosis 17
leber congenital amaurosis 18
platyspondylic skeletal dysplasia, torrance type
ataxia, cerebellar, cayman type
{calcium, serum level of}
robinow syndrome, autosomal dominant
{atopy, susceptibility to}
spastic paraplegia 38, autosomal dominant
ectodermal dysplasia-syndactyly syndrome 1
mental retardation, x-linked 19
macrocephaly/autism syndrome
molybdenum cofactor deficiency b
molybdenum cofactor deficiency c
molybdenum cofactor deficiency a
mental retardation, x-linked 14
prostate cancer, hereditary
complement component 4, partial deficiency of
{systemic lupus erythematosus, susceptibility to, 10}
monilethrix OMIM mapping confirmed by DO. [SN].
peutz-jeghers syndrome OMIM mapping confirmed by DO. [SN].
{obesity, susceptibility to, bmiq18}
hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
dyschromatosis symmetrica hereditaria A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
cataract 39, multiple types, autosomal dominant
chromosome 16p11.2 deletion syndrome, 220kb
[bone mineral density qtl 3]
birk-barel mental retardation dysmorphism syndrome OMIM mapping confirmed by DO. [SN].
orofaciodigital syndrome iv
?hypogonadotropic hypogonadism 13 with or without anosmia
isobutyryl-coa dehydrogenase deficiency
chromosome 11p15-p14 deletion syndrome
epilepsy, idiopathic generalized, susceptibility to 4
?systemic lupus erythematosus, susceptibility to or protection against}
hyperferritinemia-cataract syndrome
apert syndrome A synostosis that results_in craniosynostosis and syndactyly.
lipoid adrenal hyperplasia
polycystic kidney disease, adult type i
aphakia, congenital primary OMIM mapping confirmed by DO. [SN].
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
pancreatic cancer An endocrine gland cancer located_in the pancreas.
ataxia-telangiectasia OMIM mapping confirmed by DO. [SN].
{macular degeneration, age-related, susceptibility to 5}
[phenylthiocarbamide tasting]
ullrich congenital muscular dystrophy OMIM mapping confirmed by DO. [SN].
polymicrogyria, bilateral occipital
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.
retinitis pigmentosa 18
retinitis pigmentosa 19
retinitis pigmentosa 13
retinitis pigmentosa 10
retinitis pigmentosa 11
coumarin resistance
retinitis pigmentosa 17
retinitis pigmentosa 14
ohdo syndrome, x-linked
adrenocorticotropic hormone deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.
giant platelet disorder, isolated
hemophagocytic lymphohistiocytosis, familial, 5
hemophagocytic lymphohistiocytosis, familial, 4
parkinson disease 17
parkinson disease 10
parkinson disease 11
parkinson disease 12
parkinson disease 13
parkinson disease 18
cocoon syndrome
{obsessive-compulsive disorder, protection against}
{porphyria variegata, susceptibility to}
restrictive dermopathy, lethal
waardenburg syndrome, type 2a
waardenburg syndrome, type 2b
waardenburg syndrome, type 2c
waardenburg syndrome, type 2d
single median maxillary central incisor The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.
huriez syndrome
amyloidosis, familial visceral
migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
{attention deficit-hyperactivity disorder, susceptibility to}
{hypertension, essential, susceptibility to}
acromelic frontonasal dysostosis
?muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
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.
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.
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.
bleeding disorder, platelet-type, 16, autosomal dominant
sveinsson choreoretinal atrophy
wegener-like granulomatosis
hypouricemia, renal, 2
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.
pulmonary hypertension, primary, 3
corneal endothelial dystrophy and perceptive deafness
neutropenia, severe congenital, x-linked
deafness, dystonia, and cerebral hypomyelination
{epidermolysis bullosa dystrophica, autosomal recessive, modifier of}
lig4 syndrome 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.
schneckenbecken dysplasia
megakaryoblastic leukemia, acute
atopy
{alzheimer disease-14}
glycogen storage disease 0, liver
?ataxia-telangiectasia-like disorder
{hiv1, resistance to}
night blindness, congenital stationary (complete), 1b, autosomal recessive
{epilepsy, childhood absence, susceptibility to, 6}
obesity, morbid, due to leptin deficiency
angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
spastic paraplegia 26, autosomal recessive
{obesity, early-onset, susceptibility to}
cryptorchidism Cryptorchidism (derived from the Greek ĪŗĻĻ…Ļ€Ļ„ĻŒĻ‚, kryptos, meaning hidden and į½„ĻĻ‡Ī¹Ļ‚, 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.
{stature qtl 5}
{inflammatory bowel disease 17, protection against}
palmoplantar keratoderma, nonepidermolytic, focal or diffuse
dentin dysplasia, type ii Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.
scapuloperoneal spinal muscular atrophy
{diabetes mellitus, insulin-dependent, 12}
peroxisome biogenesis disorder 9b
neuropathy, motor and sensory, russe type
[high density lipoprotein cholesterol level qtl 10]
{neuroblastoma, susceptibility to, 1}
pelizaeus-merzbacher disease OMIM mapping confirmed by DO. [SN].
spastic paraplegia 51, autosomal recessive
gastrointestinal stromal tumor OMIM mapping confirmed by DO. [SN].
thyroid carcinoma with thyrotoxicosis
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
night blindness, congenital stationary (complete), 1c, autosomal recessive
microcephaly 6, primary, autosomal recessive
{celiac disease, susceptibility to, 12}
chromosome xq28 duplication syndrome
testicular germ cell tumor
hematuria, familial benign
ethylmalonic encephalopathy
ehlers-danlos syndrome, type iii
[blood group, lutheran system]
{hypercholesterolemia, susceptibility to}
{mental health wellness-1}
friedreich ataxia Xref MGI.
{macular degeneration, age-related, 10}
neutropenia, cyclic
homocystinuria, b6-responsive and nonresponsive types
?joubert syndrome 22
keratoconus 1
dowling-degos disease 4
dowling-degos disease 2
dowling-degos disease 3
dowling-degos disease 1
mental retardation, x-linked 77
meningioma, sis-related
keratoconus 2
senior-loken syndrome-1
?microphthalmia, syndromic 1
macular dystrophy, north carolina type
[bone size quantitative trait locus 3]
focal dermal hypoplasia OMIM mapping confirmed by DO. [SN].
dystonia-1, torsion
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
tibial muscular dystrophy, tardive
?anemia, hypochromic microcytic, with iron overload 2
ichthyosis prematurity syndrome
farber lipogranulomatosis OMIM mapping confirmed by DO. [SN].
de la chapelle dysplasia Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
epilepsy, generalized, with febrile seizures plus, type 7
epilepsy, generalized, with febrile seizures plus, type 6
{follicular lymphoma, susceptibility to, 1}
epilepsy, generalized, with febrile seizures plus, type 4
epilepsy, generalized, with febrile seizures plus, type 3
epilepsy, generalized, with febrile seizures plus, type 2
epilepsy, generalized, with febrile seizures plus, type 1
cardiomyopathy, dilated, 1hh
glycogen storage disease xii
myasthenia gravis, neonatal transient
synpolydactyly with foot anomalies
d-bifunctional protein deficiency
{basal cell carcinoma, susceptibility to, 5}
hematuria, benign familial
[fasting insulin level quantitative trait locus 1]
{osteoporosis, susceptibility to}
[cholesterol level qtl 1]
thyroid adenoma, hyperfunctioning, somatic
?phosphoserine aminotransferase 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.
increased responsiveness to growth hormone
{dystonia-1, modifier of}
{tuberculosis infection, protection against}
dementia, familial british
wilson disease OMIM mapping confirmed by DO. [SN].
pituitary acth-secreting adenoma
limb-mammary syndrome
pseudohyperkalemia, familial, 2, due to red cell leak
hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
spondylocarpotarsal synostosis syndrome
acyl-coa dehydrogenase, medium chain, deficiency of
{obesity, susceptibility to, bmiq4}
hypereosinophilic syndrome, idiopathic, resistant to imatinib
{celiac disease, susceptibility to}
galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
myasthenia, limb-girdle, familial
{sarcoidosis, susceptibility to, 1}
spermatogenic failure 8
spermatogenic failure 9
prieto syndrome
spermatogenic failure 4
{inflammatory bowel disease 24}
spermatogenic failure 6
spermatogenic failure 7
fibrosis of extraocular muscles, congenital, 2
spermatogenic failure 2
spermatogenic failure 3
parkinson disease 14
cortical dysplasia-focal epilepsy syndrome
leukemia, acute t-cell lymphoblastic
myopathy, congenital, with fiber-type disproportion, x-linked
hemophagocytic lymphohistiocytosis, familial, 1
bartter syndrome, type 2
hemophagocytic lymphohistiocytosis, familial, 3
metaphyseal anadysplasia 1
craniometaphyseal dysplasia, autosomal recessive
{transcription of plasminogen activator inhibitor, modulator of}
[erythrocytosis, familial, 1]
pierson syndrome
albinism, oculocutaneous, type vii
xeroderma pigmentosum, group b
xeroderma pigmentosum, group c
xeroderma pigmentosum, group a
xeroderma pigmentosum, group f
xeroderma pigmentosum, group g
xeroderma pigmentosum, group d
synpolydactyly 3
hsan2d, autosomal recessive
esophageal carcinoma Tumors or cancer of the ESOPHAGUS.
[fructosuria]
ectodermal dysplasia 4, hair/nail type
short qt syndrome 1
short qt syndrome 3
short qt syndrome 2
bleeding disorder, platelet-type, 17
bleeding disorder, platelet-type, 15
encephalopathy, familial, with neuroserpin inclusion bodies
bleeding disorder, platelet-type, 11
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.
lactate dehydrogenase-b deficiency
{macular degeneration, age-related, 8}
neuropathy, distal hereditary motor, jerash type
{end-stage renal disease, nondiabetic, susceptibility to}
thrombocytopenia-2
{breast and colorectal cancer, susceptibility to}
{epilepsy, juvenile myoclonic, susceptiblity to, 9}
{migraine, familial typical, susceptibility to, 2}
{pancreatitis, chronic, protection against}
sesame syndrome
baraitser-winter syndrome 1
van der woude syndrome 2
cherubism OMIM mapping confirmed by DO. [SN].
dopamine beta-hydroxylase deficiency
fetal hemoglobin quantitative trait locus 2
{autism susceptibility 12}
fetal hemoglobin quantitative trait locus 4
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4
cutis laxa, autosomal recessive, type ia
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1
cutis laxa, autosomal recessive, type ib
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9
mucopolysaccharidosis type vi (maroteaux-lamy)
leukemia, acute myelogenous
chondrodysplasia, blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
alveolar capillary dysplasia with misalignment of pulmonary veins
bart-pumphrey syndrome 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.
supranuclear palsy, progressive
hyperpigmentation, familial progressive, 2
hypertelorism, preauricular sinus, punctal pits, and deafness
night blindness, congenital stationary, autosomal dominant 1
pituitary hormone deficiency, combined, 4
arthrogryposis, distal, type 2b
cpt ii deficiency, lethal neonatal
arthrogryposis, distal, type 2a
{hirschsprung disease, susceptibility to, 5}
cholestasis, progressive familial intrahepatic 1
cholestasis, progressive familial intrahepatic 2
cholestasis, progressive familial intrahepatic 3
cholestasis, progressive familial intrahepatic 4
[kininogen deficiency] Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.
?lipodystrophy, congenital generalized, type 3
[eculizumab, poor response to]
gm2-gangliosidosis, several forms
{psoriasis susceptibility 10}
{diabetes mellitus, non-insulin-dependent, susceptibility to}
lymphoma, b-cell
{?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.
boucher-neuhauser syndrome
thalassemia, delta-
aplasia of lacrimal and salivary glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
spinal muscular atrophy, late-onset, finkel type
epidermolysis bullosa, generalized atrophic benign
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 1
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
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.
{obesity, susceptibility to, bmiq12}
?deafness, autosomal recessive 103
?deafness, autosomal recessive 102
?deafness, autosomal recessive 101
atelosteogenesis ii
deafness, congenital with inner ear agenesis, microtia, and microdontia
pulmonary hypertension, familial primary, 1, with or without hht
[blood group, abo system]
failure of tooth eruption, primary
[mean platelet volume qtl3]
{asperger syndrome susceptibility, x-linked 1}
phelan-mcdermid syndrome
otodental dysplasia chromsome deletion syndrome
leukemia, myeloid/lymphoid or mixed-lineage
hepatic adenoma, somatic
hypothyroidism, congenital nongoitrous, 5
ichthyosis histrix, curth-macklin type
?thromboxane synthase deficiency
charcot-marie-tooth disease, recessive intermediate d
charcot-marie-tooth disease, recessive intermediate c
{diabetes mellitus, transient neonatal}
parkinsonism-dystonia, infantile
methylmalonic aciduria and homocystinuria, cblf type
{pheochromocytoma, susceptibility to}
hepatic lipase deficiency
hypertension, essential
trigonocephaly 1
{dyslexia, susceptibility to, 1}
chromosome 17q23.1-q23.2 duplication syndrome
polycystic kidney and hepatic disease
?myopathy, congenital, compton-north
{tsc2 angiomyolipomas, renal, modifier of}
myopathy with lactic acidosis, hereditary
epiphyseal dysplasia, multiple, with myopia and deafness
thrombophilia, familial, due to decreased release of plat
?prinzmetal angina
spastic paraplegia 47, autosomal recessive
{epilepsy, childhood absence, susceptibility to, 4}
?retinal dystrophy, juvenile cataracts, and short stature syndrome
hypoparathyroidism, autosomal recessive
{stature qtl 7}
pontocerebellar hypoplasia type 2c NT MGI.
pontocerebellar hypoplasia type 2b NT MGI.
pontocerebellar hypoplasia type 2a NT MGI.
pontocerebellar hypoplasia type 2d NT MGI.
melanoma, malignant, somatic
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
nemaline myopathy 5, amish type
mephenytoin poor metabolizer
{hemolytic uremic syndrome, atypical, susceptibility to, 4}
neutropenia, neonatal alloimmune
night blindness, congenital stationary (complete), 1a, x-linked
amelogenesis imperfecta, type ig (enamel-renal syndrome)
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.
mental retardation, x-linked 9
{neuroblastoma, susceptibility to, 3}
wagner syndrome 1
mental retardation, x-linked 1
mental retardation, x-linked 2
[blood group, ok]
immunodeficiency 8
aortic valve disease 2
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.
lchad deficiency
{coronary artery disease, susceptibility to}
esophageal squamous cell carcinoma, somatic
pituitary tumor, invasive
frias syndrome
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.
[handedness] Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.
{diabetes mellitus, insulin-dependent, 3}
ebd, bart type
cylindromatosis, familial
[body mass index qtl16]
{graves disease, susceptibility to, 2}
microcephaly 1, primary, autosomal recessive
fanconi-bickel syndrome
dyskinesia, familial, with facial myokymia
alcohol sensitivity, acute
papillon-lefevre syndrome OMIM mapping confirmed by DO. [SN].
dystonia-7, torsion
lhermitte-duclos syndrome
acrocapitofemoral dysplasia OMIM mapping confirmed by DO. [SN].
diabetes mellitus, noninsulin-dependent, 2
mental retardation, x-linked, syndromic 15 (cabezas type)
dentatorubro-pallidoluysian atrophy
{thyroid carcinoma, follicular, somatic}
{autism susceptibility 3}
{sezary syndrome, somatic},
amyotrophic lateral sclerosis 4, juvenile A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
oi type ii
?glycogen storage disease xiii
rhabdomyosarcoma, somatic
retinol dystrophy, iris coloboma, and comedogenic acne syndrome
cardiomyopathy, dilated, 1jj
hypotrichosis 11
hypotrichosis 12
pseudohypoaldosteronism, type i
glutamate formiminotransferase deficiency
foveal hypoplasia 1
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.
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
factor xi deficiency, autosomal dominant
pitt-hopkins like syndrome 1
analbuminemia
{inflammatory bowel disease 26}
episodic pain syndrome, familial, 3
episodic pain syndrome, familial, 2
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.
c1q deficiency
medulloblastoma, desmoplastic
burkitt lymphoma A mature B-cell neoplasm of B-cells found in the germinal center.
retinitis pigmentosa-12, autosomal recessive
{legionaire disease, susceptibility to}
axenfeld-rieger syndrome, type 1
neurofibromatosis-noonan syndrome
axenfeld-rieger syndrome, type 3
barth syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
aneurysm, intracranial berry, 11
{nonsmall cell lung cancer}
leigh syndrome, due to cox deficiency
palmoplantar keratoderma and woolly hair
{melanoma, cutaneous malignant, 9}
?microcephaly 8, primary, autosomal recessive
chromosome 22q13 duplication syndrome
[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.
optic nerve hypoplasia and abnormalities of the central nervous system
myopia 22, autosomal dominant
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
erythermalgia, primary
methylmalonic aciduria and homocystinuria, cblc type
bernard-soulier syndrome, type a2 (dominant)
osteogenesis imperfecta, type v
osteogenesis imperfecta, type i
sc phocomelia syndrome OMIM mapping confirmed by DO. [SN].
spondylometaphyseal dysplasia with cone-rod dystrophy
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
olmsted syndrome
retinal nonattachment, nonsyndromic congenital
{placental abruption} A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
pyruvate dehydrogenase e1-alpha deficiency
aphasia, primary progressive
spinocerebellar ataxia, autosomal recessive 16
spinocerebellar ataxia, autosomal recessive 14
spinocerebellar ataxia, autosomal recessive 13
spinocerebellar ataxia, autosomal recessive 11
spinocerebellar ataxia, autosomal recessive 10
ichthyosis, congenital, autosomal recessive 4a
{spermatogenic failure, susceptibility to}
[blood group, auberger system]
cousin syndrome
wiskott-aldrich syndrome OMIM mapping confirmed by DO. [SN].
oculoauricular syndrome
wilson-turner syndrome
combined d-2- and l-2-hydroxyglutaric aciduria
{beryllium disease, chronic, susceptibility to}
weill-marchesani-like syndrome
leukemia, acute myelomonocytic
palmoplantar hyperkeratosis and true hermaphroditism
paramyotonia congenita
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3
brachydactyly-mental retardation syndrome
muscular dystrophy, limb-girdle, type 1h
bare lymphocyte syndrome, type ii, complementation group c
bare lymphocyte syndrome, type ii, complementation group a
?pancreatic endocrine tumors
bare lymphocyte syndrome, type ii, complementation group d
charcot-marie-toothe disease, axonal, type 2p
?{amyotrophic lateral sclerosis, susceptibility to}
?orofaciodigital syndrome xiv
cone dystrophy 4
spondyloepiphyseal dysplasia tarda with progressive arthropathy
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.
spinocerebellar ataxia, x-linked 5
{anxiety-related personality traits}
simpson-golabi-behmel syndrome, type 1
simpson-golabi-behmel syndrome, type 2
holoprosencephaly 11
mitochondrial pyruvate carrier deficiency
{multiple sclerosis, disease progression, modifier of}
myopathy, reducing body, x-linked, childhood-onset
woolly hair, autosomal recessive 1, with or without hypotrichosis
[hereditary persistence of fetal hemoglobin]
{deafness, mitochondrial, modifier of}
ehlers-danlos syndrome, type ii
mitral valve prolapse, myxomatous 1
mitral valve prolapse, myxomatous 2
mitral valve prolapse, myxomatous 3
[skin/hair/eye pigmentation 5, dark/fair skin]
macrocytic anemia, refractory, due to 5q deletion, somatic
ghosal hematodiaphyseal syndrome
ehlers-danlos syndrome, type iv
wolfram-like syndrome, autosomal dominant
{hirschsprung disease, susceptibility to, 7}
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.
[leptin serum levels qtl1]
ventricular tachycardia, idiopathic
roberts syndrome OMIM mapping confirmed by DO. [SN].
rhabdomyosarcoma, alveolar
craniofrontonasal dysplasia OMIM mapping confirmed by DO. [SN].
hellp syndrome, maternal, of pregnancy
peroxisome biogenesis disorder 10a (zellweger)
deafness, autosomal recessive 32
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).
fibromatosis, gingival, 2
fibromatosis, gingival, 3
fibromatosis, gingival, 4
leukemia/lymphoma, t-cell
neutropenia, severe congenital, 6, autosomal recessive
hypoparathyroidism, familial isolated
leukemia, juvenile myelomonocytic
night blindness, congenital stationary (incomplete), 2b, autosomal recessive
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
17,20-lyase deficiency, isolated
prostate cancer 1
smith-lemli-opitz syndrome OMIM mapping confirmed by DO. [LS].
fucosidosis OMIM mapping confirmed by DO. [SN].
mitochondrial respiratory chain complex ii deficiency
facial paresis, hereditary congenital, 3
patella aplasia or hypoplasia
{kuru, susceptibility to}
leukemia, t-cell acute lymphoblastic
cleft palate, isolated
joubert syndrome 8
gastrointestinal stromal tumor, familial
{autism, susceptibility to, 14b}
[mean platelet volume qtl1]
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
[skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)]
{dyslexia, susceptibility to, 3}
?monilethrix OMIM mapping confirmed by DO. [SN].
keratosis palmoplantaris striata i, ad
saethre-chotzen syndrome with eyelid anomalies
?hypertrichosis universalis congenita, ambras type
congenital myopathy with excess of muscle spindles
ichthyosis, autosomal recessive 4b (harlequin)
{renal dysplasia, cystic, susceptibility to}
mitochondrial dna depletion syndrome 2 (myopathic type)
factor v and factor viii, combined deficiency of
glycogen storage disease iv OMIM mapping confirmed by DO. [SN].
{pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}
mental retardation, x-linked, with short stature
beaulieu-boycott-innes syndrome
{aneurysm, familial abdominal 3}
glycogen storage disease ia
hypogonadotropic hypogonadism 4 with or without anosmia
glycogen storage disease ic
glycogen storage disease ib
glycogen storage disease ii A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
myotonia congenita, atypical, acetazolamide-responsive
epidermolysis bullosa simplex, ogna type Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.
langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
dementia, frontotemporal, with or without parkinsonism
larsen-like syndrome
{hemolytic uremic syndrome, atypical, susceptibility to, 6}
pelviureteric junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter.
pigmented nodular adrenocortical disease, primary, 1
pigmented nodular adrenocortical disease, primary, 2
pigmented nodular adrenocortical disease, primary, 3
ovarian hyperstimulation syndrome OMIM mapping confirmed by DO. [SN].
welander distal myopathy
hemophagocytic lymphohistiocytosis, familial, 2
fg syndrome 3
fg syndrome 2
fg syndrome 5
{diabetes mellitus, noninsulin-dependent 1}
hyperekplexia, hereditary 1, autosomal dominant or recessive
sting-associated vasculopathy, infantile-onset
interstitial nephritis, karyomegalic
growth retardation with deafness and mental retardation due to igf1 deficiency
[ige, elevated level of]
abdominal obesity-metabolic syndrome 1
abdominal obesity-metabolic syndrome 3
{leukemia, chronic lymphocytic, susceptibility to, 2}
{diabetes mellitus, insulin-dependent, 5}
c7 deficiency
king-denborough syndrome
[body mass index qtl14]
[high density lipoprotein cholesterol level qtl 5]
angio serpiginosum
leukodystrophy, adult-onset, autosomal dominant
{spina bifida, susceptibility to}
{prostate cancer, somatic}
androgen insensitivity
usher syndrome, type 3a
hyperammonemia due to carbonic anhydrase va deficiency
neuroblastoma with hirschsprung disease
?renal hypodysplasia/aplasia 2
{psoriasis susceptibility 1}
osteosarcoma, somatic
cutis laxa, autosomal recessive, type iiia
cutis laxa, autosomal recessive, type iiib
brachydactyly, type e2
spastic ataxia 1, autosomal dominant
3-methylglutaconic aciduria, type i
{celiac disease, susceptibility to, 9}
{autism susceptibility 1}
chromosome 16p12.2-p11.2 deletion syndrome
{systemic lupus erythematosus, resistance to}
encephalopathy, neonatal severe
cardiomyopathy, dilated, 1ll
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)
myelodysplastic syndrome, preleukemic
febrile seizures, familial, 3b
osteopetrosis, autosomal dominant 1
osteopetrosis, autosomal dominant 2
thrombocytopenia, neonatal alloimmune, bak antigen related
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
{abruptio placentae, susceptibility to}
?mental retardation, autosomal recessive 45
?mental retardation, autosomal recessive 42
?mental retardation, autosomal recessive 43
transposition of the great arteries, dextro-looped 1
transposition of the great arteries, dextro-looped 2
cerebrotendinous xanthomatosis A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
{schizoaffective disorder, susceptibility to}
{inflammatory bowel disease 20}
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
chudley-mccullough syndrome
hemolytic anemia due to g6pd deficiency
renal cell carcinoma, clear cell, somatic
thryoid dyshormonogenesis 6
vitreoretinopathy with phalangeal epiphyseal dysplasia
corneal endothelial dystrophy 1, autosomal dominant
glutathione synthetase deficiency
selective t-cell defect
{hypercholesterolemia, familial, due to ldlr defect, modifier of}
insensitivity to pain, congenital
kowarski syndrome
oculopharyngeal muscular dystrophy OMIM mapping confirmed by DO. [SN].
[lpa deficiency, congenital]
leukotriene c4 synthase deficiency Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
hemolytic anemia due to glutathione synthetase deficiency
thyroid dyshormonogenesis 5
chediak-higashi syndrome OMIM mapping confirmed by DO. [SN].
hypercalciuric hypercalcemia
heterotaxy, visceral, 4, autosomal
glass syndrome
lipoprotein lipase deficiency
speech-language disorder-1
{aids, resistance to}
hereditary motor and sensory neuropathy v
retinitis pigmentosa 4, autosomal dominant or recessive
myelokathexis, isolated
holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
triphalangeal thumb, type i
atrial septal defect 6
atrial septal defect 5
atrial septal defect 4
atrial septal defect 3
atrial septal defect 2
atrial septal defect 1
coach syndrome Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
atrial septal defect 9
atrial septal defect 8
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.
chromosome 16p11.2 duplication syndrome
vitreoretinochoroidopathy
fanconi renotubular syndrome 4, with maturity-onset diabetes of the young
spastic paraplegia 27, autosomal recessive
supernumerary der(22)t(8-22) syndrome
{myelodysplastic syndrome, susceptibility to}
{glioma susceptibility 1}
mevalonic aciduria OMIM mapping confirmed by DO. [SN].
{psoriatic arthritis, susceptibility to}
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.
waardenburg syndrome/albinism, digenic
{spondyloarthropathy, susceptibility to, 1}
[bone mineral density qtl 5]
chromosome xp11.3 deletion syndrome
diaphanospondylodysostosis
polycythemia vera
bent bone dysplasia syndrome
otosclerosis 10
advanced sleep phase syndrome, familial, 1
achalasia-addisonianism-alacrimia syndrome OMIM mapping confirmed by DO. [SN].
{glioma susceptibility 5}
{obesity, severe, and type ii diabetes}
glaucoma 1c, primary open angle
osteogenesis imperfecta, type xiv
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency
keratitis
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.
osteogenesis imperfecta, type xii
?hypervalinemia or hyperleucine-isoleucinemia
{leukemia, chronic lymphocytic susceptibility to, 4}
{hirschsprung disease, susceptibility to, 1}
stuttering, familial persistent, 1
stuttering, familial persistent, 3
stuttering, familial persistent, 2
stuttering, familial persistent, 4
periventricular nodular heterotopia 3
periventricular nodular heterotopia 5
{plasmodium falciparum fever episodes qtl1}
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.
{spinal muscular atrophy, type iii, modifier of}
peroxisome biogenesis disorder 11b
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.
agnathia-otocephaly complex
klippel-feil syndrome 1, autosomal dominant
{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.
folate malabsorption, hereditary
laryngoonychocutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
{?major affective disorder 2}
palmoplantar keratoderma, nonepidermolytic, focal
{breast cancer, lobular}
[histidinemia] A histidine metabolism disease that involves a deficiency of the enzyme histidase.
parkinson disease 15, autosomal recessive
potocki-lupski syndrome
?charcot-marie-tooth disease, type 4b3
thrombocytopenic purpura, autoimmune
agammaglobulinemia 1
agammaglobulinemia 2
agammaglobulinemia 3
agammaglobulinemia 4
agammaglobulinemia 5
agammaglobulinemia 6
optic atrophy-7
multiple endocrine neoplasia, type iv
{dyslexia, susceptibility to, 5}
{colchicine resistance}
?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
mckusick-kaufman syndrome
{aneurysm, intracranial berry, 10}
chromosome 16p13.3 duplication syndrome
multiple endocrine neoplasia 1
gm1-gangliosidosis, type i
pontocerebellar hypoplasia, type 1c
pontocerebellar hypoplasia, type 1b NT MGI.
chromosome 22q11.2 microduplication syndrome
spastic paraplegia 9, autosomal dominant
cerebroretinal microangiopathy with calcifications and cysts 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.
corneal dystrophy, reis-bucklers type
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4
tooth agenesis, selective, x-linked 1
[white blood cell count qtl]
pontocerebellar hypoplasia, type 10 NT MGI.
cardiac arrhythmia, ankyrin-b-related
chromosome 16q22 deletion syndrome
hypogonadotropic hypogonadism 9 with or without anosmia
{vitiligo-associated multiple autoimmune disease susceptibility 1}
{sarcoidosis, susceptibility to, 2}
dentinogenesis imperfecta, shields type iii
renal tubular acidosis, distal, ar
renal tubular acidosis, distal, ad
bleeding disorder, platelet-type, 8
chromosome xq27.3-q28 duplication syndrome
ichthyosis with confetti
sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
hmg-coa synthase-2 deficiency
wieacker-wolf syndrome
vitamin d-dependent rickets, type i Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
roussy-levy syndrome
hyperekplexia 3
{asthma-related traits, susceptibility to, 7}
tangier disease OMIM mapping confirmed by DO. [LS].
seborrhea-like dermatitis with psoriasiform elements
gaucher disease, type i, 23080
male germ cell tumor
deafness, autosomal dominant 6/14/38
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.
biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase.
factor xiiia deficiency
maturity-onset diabetes of the young, type 10
maturity-onset diabetes of the young, type 11
multicentric carpotarsal osteolysis syndrome
{diabetes mellitus, insulin-dependent, 7}
short-rib thoracic dysplasia 9 with or without polydactyly
adermatoglyphia
gerstmann-straussler disease
usher syndrome, type 1b
usher syndrome, type 1c
amelogenesis imperfecta, type iia5
amelogenesis imperfecta, type iia3
amelogenesis imperfecta, type iia2
amelogenesis imperfecta, type iia1
usher syndrome, type 1e
usher syndrome, type 1h
mental retardation, x-linked, syndromic, chudley-schwartz type,
hydrolethalus syndrome 2
{drug-induced liver injury due to flucloxacillin}
spermatogenic failure 12
spermatogenic failure 10
spermatogenic failure 11
nystagmus 7, congenital, autosomal dominant
tolbutamide poor metabolizer
leukemia, acute promyelocytic, pml/rara type
{deafness, autosomal recessive 12, modifier of}
cardiomyopathy, dilated, 1nn
{autism susceptibility 7}
immunodeficiency, primary, autosomal recessive, il21r-related
auditory neuropathy, autosomal dominant, 1
harp syndrome
{dyskeratosis congenita, autosomal dominant 2}
{endometrial cancer, susceptibility to}
citrullinemia, adult-onset type ii
growth hormone deficiency, isolated, type ii
growth hormone deficiency, isolated, type ia
growth hormone deficiency, isolated, type ib
{epilepsy, juvenile absence, susceptibility to, 2}
palmoplantar keratoderma, nagashima type
mcardle disease
homocysteine plasma level
{celiac disease, susceptibility to, 4}
immunodeficiency, common variable, 10
erythrocytosis, familial, 4
erythrocytosis, familial, 3
erythrocytosis, familial, 2
carbamoylphosphate synthetase i deficiency
bethlem myopathy OMIM mapping confirmed by DO. [SN].
{neural tube defects, folate-sensitive, susceptibility to}
hyperbilirubinemia, rotor type, digenic
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
lung cancer, somatic
liebenberg syndrome
{inflammatory bowel disease 22}
fibromatosis, gingival
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
{alzheimer disease 18, susceptibility to}
{menopause, natural, age at, qtl3}
cowden syndrome 2
cowden syndrome 3
cowden syndrome 1
cowden syndrome 6
cowden syndrome 4
cowden syndrome 5
[plasma glucose, 2-hour, qtl 2]
[low density lipoprotein cholesterol level qtl 3]
?aniridia OMIM mapping confirmed by DO. [SN].
{melanoma, cutaneous malignant, 5}
osteogenesis imperfecta, type ii
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
{stature qtl 16}
spinal muscular atrophy, lower extremity-predominant 1, ad
osteogenesis imperfecta, type iv
osteogenesis imperfecta, type ix
martsolf syndrome
acropectorovertebral dysplasia
mental retardation, x-linked 92
mental retardation, x-linked 93
meckel syndrome, type 11
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
mental retardation, x-linked 96
mental retardation, x-linked 97
mental retardation, x-linked 94
mental retardation, x-linked 95 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
{hypertension, insulin resistance-related, susceptibility to}
mental retardation, x-linked 99
myopathy, centronuclear, autosomal recessive
myopathy, distal 3
{obesity, susceptibility to, bmiq10}
mental retardation, autosomal recessive 39
mental retardation, autosomal recessive 38
mental retardation, autosomal recessive 31
miyoshi muscular dystrophy 1
mental retardation, autosomal recessive 33
miyoshi muscular dystrophy 3
mental retardation, autosomal recessive 35
mental retardation, autosomal recessive 34
mental retardation, autosomal recessive 36
thrombophilia due to activated protein c resistance
hypoalphalipoproteinemia An decreased concentration of high-density lipoprotein cholesterol in the blood.
blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
dentin dysplasia, type i, with microdontia and misshapen teeth
adenocarcinoma, ovarian, somatic
?immunodeficiency 25
?immunodeficiency 22
epilepsy, hot water, 1
epilepsy, hot water, 2
mental retardation and microcephaly with pontine and cerebellar hypoplasia
arthrogryposis multiplex congenita, neurogenic
{essential tremor, susceptibility to}
cavitary optic disc anomalies
?retinitis pigmentosa 51
chromosome 18q deletion syndrome
?retinitis pigmentosa 55
alpha-ketoglutarate dehydrogenase deficiency 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.
immunoglobulin a deficiency
{obesity, susceptibility to}
{glioma susceptibility 7}
hypercholesterolemia, familial, 3
microcephaly, epilepsy, and diabetes syndrome
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
macular dystrophy, patterned, 1
myopathy, proximal, with early respiratory muscle involvement
{spondyloarthropathy, susceptibility to, 3}
?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
mody, type ii
mody, type iv
stickler syndrome, type iv
{malignant hyperthermia susceptibility 5}
microvillus inclusion disease
wilms tumor
retinal cone dystrophy 4
retinal cone dystrophy 3
[hyperproreninemia]
{lung cancer susceptibility 3}
amyotrophic lateral sclerosis 1 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
amyotrophic lateral sclerosis 7 A type of ALS with loci associated with the disease located_in chromosome 20.
amyotrophic lateral sclerosis 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
amyotrophic lateral sclerosis 9 A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
silver-russell syndrome OMIM mapping confirmed by DO. [LS].
rubinstein-taybi syndrome 2
deafness, neurosensory, autosomal recessive 47
polycystic liver disease
xia-gibbs syndrome
[blood group, indian system]
{mycobacterium tuberculosis, protection against}
maple syrup urine disease, type ii
sitosterolemia
maple syrup urine disease, type ib
{hypospadias 4, x-linked, susceptibilty to}
maple syrup urine disease, type ia
{migraine without aura, susceptibility to, 4}
scaphocephaly, maxillary retrusion, and mental retardation
li-fraumeni syndrome 3
lipodystrophy, congenital generalized, type 1
?male pseudohermaphroditism due to defective lh
{diabetes mellitus, insulin-dependent, 22}
facial clefting, oblique, 1
[blood group, p1pk system, p phenotype]
germ cell tumors
hydrocephalus due to aqueductal stenosis
leukemia, acute promyelocytic, stat5b/rara type
kenny-caffey syndrome-1
x inactivation, familial skewed, 2
ebd inversa
histiocytosis-lymphadenopathy plus syndrome
cholestasis, intrahepatic, of pregnancy, 1
[novelty seeking personality]
cholestasis, intrahepatic, of pregnancy, 3
duane-radial ray syndrome Le rĆ©sumĆ© pour cette maladie est en cours de production. Cependant, vous pouvez accĆ©der Ć  d'autres donnĆ©es sur cette maladie Ć  partir du menu Ā« Informations complĆ©mentaires Ā» situĆ© Ć  droite sur cette page.
left ventricular noncompaction 1, with or without congenital heart defects
tooth agenesis, selective, 1, with or without orofacial cleft
epilepsy, progressive myoclonic 6
epilepsy, progressive myoclonic 5
{pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}
{hemorrhage, intracerebral, susceptibility to}
{esophagitis, eosinophilic, 1}
lymphocytic leukemia, acute t-cell
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).
mucolipidosis iv
chromosome 8q21.11 deletion syndrome
renal hypoplasia, isolated
ovarian dysgenesis 1
ovarian dysgenesis 2
ovarian dysgenesis 3
myotonia congenita, recessive
chromosome 16p13.3 deletion syndrome
spondylometaphyseal dysplasia, kozlowski type
breast cancer, somatic
dystonia-11, myoclonic
nail disorder, nonsyndromic congenital, 3, (leukonychia)
{autoimmune disease, susceptibility to, 2}
?infantile liver failure syndrome 2
?infantile liver failure syndrome 1
corneal dystrophy, thiel-behnke type
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
jervell and lange-nielsen syndrome
46xy partial gonadal dysgenesis, with minifascicular neuropathy
{breast-ovarian cancer, familial, 2}
macular dystrophy with central cone involvement
huntington disease-like 3
huntington disease-like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.
huntington disease-like 1
bare lymphocyte syndrome, type i, due to tap2 deficiency
metaphyseal chondrodysplasia, murk jansen type
prader-willi syndrome OMIM mapping confirmed by DO. [SN].
glut1 deficiency syndrome 1
glut1 deficiency syndrome 2
laing distal myopathy
dyskeratosis congenita, autosomal dominant 4
leukoencephalopathy with vanishing white matter
dyskeratosis congenita, autosomal dominant 1
dyskeratosis congenita, autosomal dominant 3
enuresis, nocturnal, 1
enuresis, nocturnal, 2
cortical malformations, occipital
chromosome 17p13.3 duplication syndrome
{hemolytic uremic syndrome, atypical, susceptibility to, 2}
vater association with macrocephaly and ventriculomegaly
[dystransthyretinemic hyperthyroxinemia]
?hypogonadotropic hypogonadism 12 with or without anosmia
follicle-stimulating hormone deficiency, isolated
leukemia, philadelphia chromosome-positive, resistant to imatinib
nephronophthisis 3
nephronophthisis 4
nephronophthisis 7
thrombocytopenia-absent radius syndrome OMIM mapping confirmed by DO. [LS].
niemann-pick disease, type c2
niemann-pick disease, type c1
{asthma, susceptibility to, 1}
hypoparathyroidism, sensorineural deafness, and renal dysplasia
rothmund-thomson syndrome OMIM mapping confirmed by DO. [SN].
chromosome 2q31.1 duplication syndrome
epidermolysis bullosa, junctional, with pyloric stenosis
polyglucosan body myopathy, early-onset, with or without immunodeficiency
{coronary artery disease, autosomal dominant, 1}
{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).
hypogonadotropic hypogonadism 6 with or without anosmia
keutel syndrome
interferon, alpha, deficiency
mental retardation, autosomal dominant 21
mental retardation, autosomal dominant 23
mental retardation, autosomal dominant 24
mental retardation, autosomal dominant 26
ciliary dyskinesia, primary, 9, with or without situs inversus
mental retardation, autosomal dominant 29
primary lateral sclerosis, adult, 1
hyperostosis, endosteal
dyschromatosis universalis hereditaria 1
dyschromatosis universalis hereditaria 3
dyschromatosis universalis hereditaria 2
heterotaxy, visceral, 2, autosomal
[high density lipoprotein cholesterol level qtl 1]
cataract 34, multiple types
myopathy, congenital, with fiber-type disproportion 1
neuropathy, hereditary sensory, type ie
neuropathy, hereditary sensory, type id
neuropathy, hereditary sensory, type if
neuropathy, hereditary sensory, type ib
?laryngeal adductor paralysis
epileptic encephalopathy, early infantile, 14
cerebrovascular disease, occlusive
epileptic encephalopathy, early infantile, 17
spastic paraplegia 34, x-linked
hypobetalipoproteinemia
?stickler syndrome, type v
leukemia, acute myeloid, somatic
myasthenic syndrome, acetazolamide-responsive
glycine encephalopathy An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
{cancer progression/metastasis}
[blood group, froese]
fragile x tremor/ataxia syndrome
?nanophthalmos 4
[uric acid concentration, serum, qtl4]
mental retardation-skeletal dysplasia
prolidase deficiency
spastic paraplegia 52, autosomal recessive
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 10
cardiomyopathy, familial restrictive, 4
cardiomyopathy, familial restrictive, 1
cardiomyopathy, familial restrictive, 3
cardiomyopathy, familial restrictive, 2
colorblindness, protan
elliptocytosis-2
elliptocytosis-3
elliptocytosis-1
wolcott-rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
peroxisome biogenesis disorder 4a (zellweger)
{synovitis, chronic, susceptibility to}
{diabetes mellitus, noninsulin-dependent, susceptibility to}
{aids, slow progression to}
{hangover, susceptibility to}
leukemia, acute promyelocytic, npm/rara type
candidiasis, familial, 5, autosomal recessive
{autoimmune thyroid disease, susceptibility to, 2}
cone dystrophy, progressive x-linked, 2
wilms tumor, type 4
{bardet-biedl syndrome 1, modifier of}
wilms tumor, type 3
{epilepsy, idiopathic generalized, susceptibility to}
wilms tumor, type 1
dementia, frontotemporal
{melanoma, cutaneous malignant, 7}
{stature qtl 14}
[birth weight qtl 3]
epidermal nevus, somatic
{autism susceptibility 5}
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
phobia, specific
spastic paraplegia 6, autosomal dominant
chondrocalcinosis with early-onset osteoarthritis
sfm syndrome, somatic mosaic
duane retraction syndrome 2
hypercholanemia, familial
duane retraction syndrome 1
mental retardation, autosomal recessive 13
mental retardation, autosomal recessive 12
mental retardation, autosomal recessive 16
mental retardation, autosomal recessive 15 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.
mental retardation, autosomal recessive 14
mental retardation, autosomal recessive 19
mental retardation, autosomal recessive 18
leukemia, acute promyelocytic, pl2f/rara type
{microvascular complications of diabetes 3}
mental retardation, x-linked syndromic, raymond type
cenani-lenz syndactyly syndrome
candidiasis, familial, 4, autosomal recessive
leukemia, acute promyelocytic, numa/rara type
pseudovaginal perineoscrotal hypospadias 46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.
hyper-ige recurrent infection syndrome, autosomal recessive
squamous cell carcinoma, head and neck
{schizophrenia, susceptibility to}
krabbe disease OMIM mapping confirmed by DO. [SN].
congenital cataracts, hearing loss, and neurodegeneration
cerebral cavernous malformations-1
cerebral cavernous malformations-2
{menopause, natural, age at, qtl1}
{vascular disease, susceptibility to}
zygodactyly 1
{systemic lupus erythematosus, susceptibility to, 5}
alzheimer disease-2
alzheimer disease-7
alzheimer disease-5
alzheimer disease-4
muenke syndrome
myasthenia, familial infantile, 1
c2 deficiency
chilblain lupus 2
choriodal dystrophy, central areolar 2
{prostate cancer, familial, susceptibility to}
radiation sensitivity/chromosome instability syndrome, autosomal dominant
gillespie syndrome Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability.
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).
congenital cataracts, facial dysmorphism, and neuropathy
myasthenic syndrome, congenital, with pre- and postsynaptic defects
[bone mineral density qtl 9]
parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
mannosidosis, beta
{malignant hyperthermia susceptibility 3}
{unipolar depression, susceptibility to}
?bardet-biedl syndrome 19
?bardet-biedl syndrome 18
?bardet-biedl syndrome 11
?bardet-biedl syndrome 15
?bardet-biedl syndrome 14
hemochromatosis, type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
hemochromatosis, type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
{efavirenz central nervous system toxicity, susceptibility to}
persistent polyclonal b-cell lymphocytosis
multicentric osteolysis, nodulosis, and arthropathy
pseudohermaphroditism, male, with gynecomastia
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
membranous glomerulonephritis, antenatal
megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
inflammatory bowel disease 28, early onset, autosomal recessive
meleda disease
parkes weber syndrome
leukemia, acute promyelocytic
{hypercalciuria, absorptive, susceptibility to}
mitochondrial dna depletion syndrome 4b (mngie type)
{kaposi sarcoma, susceptibility to}
{colorectal cancer, susceptibility to, 2}
platelet-activating factor acetylhydrolase deficiency
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
{delayed sleep phase syndrome, susceptibility to}
mucopolysaccharidosis type iiib (sanfilippo b)
[blood group, landsteiner-wiener]
{diabetes mellitus, insulin-dependent, 24}
{schizophrenia 10}
{inflammatory bowel disease 8}
myotonic dystrophy 2
myotonic dystrophy 1
episodic pain syndrome, familial
{malaria, resistance to}
familial mediterranean fever, ar
macrocephaly, macrosomia, facial dysmorphism syndrome
agenesis of the corpus callosum with peripheral neuropathy
central hypoventilation syndrome, congenital
pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
alagille syndrome 2
spermatogenic failure 5
{long qt syndrome 2, acquired, susceptibility to}
bernard-soulier syndrome, type a1 (recessive)
culler-jones syndrome
{obesity, late-onset}
ataxia, posterior column, with retinitis pigmentosa
fibrosis of extraocular muscles, congenital, 1
brachydactyly, type c
transposition of great arteries, dextro-looped 3
brachydactyly, type d This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.
brachydactyly, type e Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
{colorectal cancer, susceptibility to, 12}
pseudohypoaldosteronism, type iic
pseudohypoaldosteronism, type iib
pseudohypoaldosteronism, type iia
pseudohypoaldosteronism, type iie
pseudohypoaldosteronism, type iid
levy-shanske syndrome
{autoimmune disease, susceptibility to, 4}
corneal dystrophy, endothelial, x-linked
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.
small cell cancer of the lung, somatic
anemia, sideroblastic, x-linked
{dyslexia, susceptibility to, 9}
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.
cystinuria An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
acyl-coa dehydrogenase, short-chain, deficiency of
nephronophthisis 15
nephronophthisis 14
nephronophthisis 16
nephronophthisis 11
nephronophthisis 13
nephronophthisis 12
calcification of joints and arteries
nephronophthisis 18
charcot-marie-tooth disease, type 4b2 Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.
charcot-marie-tooth disease, type 4b1 Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.
fertile eunuch syndrome
retinoschisis
epileptic encephalopathy, early infantile, 15 A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
scoliosis, idiopathic 2
scoliosis, idiopathic 1
epileptic encephalopathy, early infantile, 16
epileptic encephalopathy, early infantile, 11
epileptic encephalopathy, early infantile, 13
epileptic encephalopathy, early infantile, 12
epileptic encephalopathy, early infantile, 19
epileptic encephalopathy, early infantile, 18
cone-rod dystrophy 20
vacterl association, x-linked
carney complex, type 1 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
sarcoidosis, early-onset
spastic paraplegia 14, autosomal recessive
insulin-like growth factor i, resistance to
thrombophilia due to elevated hrg
atelosteogenesis, type i Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
{lymphoma, follicular, somatic}
ornithine transcarbamylase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
?neuronopathy, distal hereditary motor, type iic
[resting heart rate]
lymphedema-distichiasis syndrome
{hyperapobetalipoproteinemia, susceptibility to}
?autoimmune lymphoproliferative syndrome, type iib
leukoencephalopathy, progressive, with ovarian failure
{schwannomatosis-1, susceptibility to}
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.
albinism-deafness syndrome
{alzheimer disease, late-onset, susceptibility to}
autoinflammation, antibody deficiency, and immune dysregulation syndrome
{amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}
glycogen storage disease, type ixa2
glycogen storage disease, type ixa1
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).
cardiomyopathy, dilated, 1bb
chronic granulomatous disease, x-linked
syndactyly, mesoaxial synostotic, with phalangeal reduction
[uric acid concentration, serum, qtl6]
acrokeratosis verruciformis OMIM mapping confirmed by DO. [SN].
char syndrome
spondyloenchondrodysplasia with immune dysregulation
osseous heteroplasia, progressive
bernard-soulier syndrome, type c
bernard-soulier syndrome, type b
neutropenia, severe congenital, 5, autosomal recessive
night blindness, congenital stationary (complete), 1e, autosomal recessive
renal cell carcinoma, papillary, 1
retinitis pigmentosa-50
genitopatellar syndrome
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.
?myopathy, tubular aggregate, 2
c6 deficiency
ciliary dyskinesia, primary, 13
ciliary dyskinesia, primary, 12
ciliary dyskinesia, primary, 11
ciliary dyskinesia, primary, 10
ciliary dyskinesia, primary, 17
ciliary dyskinesia, primary, 16
ciliary dyskinesia, primary, 15
ciliary dyskinesia, primary, 14
ciliary dyskinesia, primary, 19
ciliary dyskinesia, primary, 18
atrioventricular septal defect, partial, with heterotaxy syndrome
charcot-marie-tooth neuropathy, x-linked recessive, 3
charcot-marie-tooth neuropathy, x-linked recessive, 2
nephrolithiasis/osteoporosis, hypophosphatemic, 2
nephrolithiasis/osteoporosis, hypophosphatemic, 1
retinitis pigmentosa 7, digenic
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
cataract 11, multiple types
albinism, oculocutaneous, type iv
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
spastic paraplegia 56, autosomal recessive
albinism, oculocutaneous, type ia
nephrolithiasis, type i
albinism, oculocutaneous, type ii
{stature qtl 12}
?steel syndrome
hypertrichosis, congenital generalized
cdags syndrome Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
[birth weight qtl 1]
creutzfeldt-jakob disease OMIM mapping confirmed by DO. [SN].
pallister-hall syndrome OMIM mapping confirmed by DO. [SN].
dystonia, juvenile-onset
{osteoarthritis susceptibility 6}
spinocerebellar ataxia, autosomal recessive 5
mucopolysaccharidosis type ix
cubitus valgus with mental retardation and unusual facies
{melanoma, cutaneous malignant, 1}
cataract, pulverulent or cerulean, with or without microcornea
loeys-dietz syndrome, type 1
loeys-dietz syndrome, type 2
loeys-dietz syndrome, type 3
klippel-feil syndrome 3, autosomal dominant
hemolytic anemia due to adenylate kinase deficiency
friedreich ataxia with retained reflexes
cerebellar ataxia, nonprogressive, with mental retardation
microcephaly 3, primary, autosomal recessive
{microvascular complications of diabetes 5}
pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.
hemolytic anemia due to glutathione reductase deficiency
{crohn disease-associated growth failure}
premature ovarian failure 1
premature ovarian failure 3
premature ovarian failure 4
premature ovarian failure 5
premature ovarian failure 6
premature ovarian failure 7
premature ovarian failure 9
harderoporphyria
{alzheimer disease, late-onset}
porphyria variegata
aneurysm, intracranial berry, 7
aneurysm, intracranial berry, 5
aneurysm, intracranial berry, 4
aneurysm, intracranial berry, 3
aneurysm, intracranial berry, 2
aneurysm, intracranial berry, 1
{stature qtl 19}
aneurysm, intracranial berry, 8
spondylo-megaepiphyseal-metaphyseal dysplasia
epilepsy, familial adult myoclonic, 4
rhabdoid tumors, somatic
paroxysmal nonkinesigenic dyskinesia 2
17-beta-hydroxysteroid dehydrogenase x deficiency
{adiponectin, serum level of, qtl2}
dejerine-sottas disease
deafness, digenic, gjb2/gjb3
ectopia lentis et pupillae
baraitser-winter syndrome 2
{malignant hyperthermia susceptibility 1}
?carnitine acetyltransferase deficiency
thyroid carcinoma, papillary, somatic
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.
cataract 6, multiple types
microcephaly, short stature, and impaired glucose metabolism
schindler disease, type i
[c3hex, ability to smell]
split-hand/foot malformation 3, gene duplication syndrome
emphysema due to aat deficiency
hypophosphatemic rickets, autosomal recessive, 2
panic disorder syndrome 1
epilepsy, pyridoxine-dependent
glycogen storage disease vi A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
spastic paraplegia, optic atrophy, and neuropathy
colorblindness, tritan
[blood group, rhesus]
erythrocytosis
hypotonia-cystinuria syndrome Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
radial ray deficiency
lactase deficiency, congenital
immunodeficiency 17, cd3 gamma deficient
melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
retinoblastoma, trilateral
combined immunodeficiency, x-linked, moderate
temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
obesity, severe
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.
premature ovarian failure 2b
cd8 deficiency, familial
{hemangioma, capillary infantile, susceptibility to}
?charcot-marie-tooth disease, recessive intermediate, b
invasive pneumococcal disease, recurrent isolated, 2
invasive pneumococcal disease, recurrent isolated, 1
[blood group, globoside system]
{hypertension, essential, susceptibility to, 6}
chondrosarcoma, extraskeletal myxoid
{stroke, susceptibility to}
{dermatitis, atopic, susceptibility to, 2}
bosch-boonstra-schaaf optic atrophy 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.
{uric acid concentration, serum, qtl 2}
fibrosis of extraocular muscles, congenital, 3b
fibrosis of extraocular muscles, congenital, 3a
obesity, adrenal insufficiency, and red hair due to pomc deficiency
synesthesia
hartsfield syndrome
?globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head.
riddle syndrome
thrombocytopenia, x-linked, with or without dyserythropoietic anemia
cataract 2, multiple types
immunodeficiency with hyper-igm, type 3
immunodeficiency with hyper-igm, type 2
anauxetic dysplasia OMIM mapping confirmed by DO. [SN].
{nonarteritic anterior ischemic optic neuropathy, susceptibility to}
{hypothalamic hamartomas, somatic}
bile acid synthesis defect, congenital, 1
bile acid synthesis defect, congenital, 3
bile acid synthesis defect, congenital, 2
bile acid synthesis defect, congenital, 4
nystagmus, infantile periodic alternating, x-linked
cirrhosis, north american indian childhood type
dystonia-15, myoclonic
hemangioma, capillary infantile, somatic
{colorectal cancer, susceptibility to, 10}
raine syndrome
{hypertension, susceptibility to}
gastric cancer, familial diffuse, with or without cleft lip and/or palate
amyloidosis, primary localized cutaneous, 2
amyloidosis, primary localized cutaneous, 1
mitochondrial phosphate carrier deficiency
scapuloperoneal myopathy, x-linked dominant
combined cellular and humoral immune defects with granulomas
thyroid carcinoma, follicular, somatic
{kala-azar, susceptibility to, 1}
optic atrophy 2, x-linked
porphyria, acute intermittent, nonerythroid variant
{lung cancer susceptibility 4}
fructose-1,6-bisphosphatase deficiency A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
mitochondrial complex ii deficiency
immunodeficiency 29, mycobacteriosis
hypoplastic left heart syndrome 2
hypoplastic left heart syndrome 1
{asthma-related traits, susceptibility to, 8}
46xx sex reversal 2
46xx sex reversal 1
{macular degeneration, age-related, reduced risk of}
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6
bartter syndrome, type 4a
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5
{autoimmune disease, susceptibility to, 6}
[blood group, lutheran null]
neural tube defects any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)
lipodystrophy, familial partial, 2
porokeratosis 8, disseminated superficial actinic type
hyperchlorhidrosis, isolated
fetal hemoglobin quantitative trait locus 1
short-rib thoracic dysplasia 3 with or without polydactyly
microtia with nasolacrimal duct imperforation and eye coloboma
colorectal cancer, somatic
infantile neuroaxonal dystrophy 1
albinism, oculocutaneous, type v
fibrochondrogenesis
{basal cell carcinoma, susceptibility to, 3}
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3
persistent mullerian duct syndrome, type i
cutis laxa, autosomal recessive, type ic
pancreatic agenesis 1
pancreatic agenesis 2
megaloblastic anemia-1, finnish type
{coronary artery disease in familial hypercholesterolemia, protection against}
{insulin resistance, susceptibility to}
cerebellar ataxia A cerebellar disease characterized by ataxia originating in the cerebellum.
diamond-blackfan anemia 8
roifman syndrome
ovarian carcinoma, somatic
adenomas, salivary gland pleomorphic
fabry disease OMIM mapping confirmed by DO. [SN].
cardiomyopathy, dilated, 1dd
cardiomyopathy, hypertrophic, midventricular, digenic
agammaglobulinemia, x-linked 1
agammaglobulinemia, x-linked 2
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.
?hypertension, salt-resistant
{congestive heart failure and beta-blocker response, modifier of}
peroxisome biogenesis disorder 1a (zellweger)
mitochondrial dna depletion syndrome 13 (encephalomyopathic type)
sialidosis, type ii
ventricular septal defect 1
small fiber neuropathy
[blood pressure regulation qtl]
digital clubbing, isolated congenital
{hypertension, essential, susceptibility to, 4}
thrombotic thrombocytopenic purpura, familial
[qt interval, variation in]
alport syndrome, autosomal dominant
[hypoceruloplasminemia, hereditary]
emery-dreifuss muscular dystrophy 3, ar
osteolysis, familial expansile
{age-related hearing impairment 2}
{nasopharyngeal carcinoma 1}
spastic paraplegia 35, autosomal recessive
hdl deficiency, type 2
diabetes mellitus, transient neonatal, 3
diabetes mellitus, transient neonatal, 1
dementia, lewy body
albinism, oculocutaneous, type ib
{pneumococcal disease, invasive, protection against}
chondrodysplasia punctata, x-linked recessive
periventricular heterotopia with microcephaly
escobar syndrome
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
cardiac conduction defect, nonspecific
alport syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
{stature qtl 10}
mednik syndrome
{epilepsy, juvenile myoclonic, susceptibility to, 8}
breast cancer, 11:22 translocation associated
epiphyseal dysplasia, multiple 1
thrombophilia due to antithrombin iii deficiency
autoimmune lymphoproliferative syndrome, type v
{melanoma, cutaneous malignant, 3}
{multiple myeloma, resistance to}
lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
hydranencephaly with abnormal genitalia
myoclonic epilepsy, infantile, familial
hypercholesterolemia, familial
nystagmus 1, congenital, x-linked
[gamma-glutamyltransferase, familial high serum]
{coronary heart disease, susceptibility to, 3}
{aneurysm, intracranial berry, 6}
{hepatitis c virus infection, response to therapy of}
cystinosis, nephropathic
ectodermal dysplasia 9, hair/nail type
hyperglycinuria An increased concentration of glycine in the urine.
schwartz-jampel syndrome, type 1
glucocorticoid deficiency 2
glucocorticoid deficiency 3
glucocorticoid deficiency 4
fibrochondrogenesis 2
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
{systemic lupus erythematosus, susceptibility to, 1}
factor x deficiency
{?macular degeneration, age-related}
{biliary cirrhosis, primary, 2}
charcot-marie-tooth disease, axonal, type 2s
{leprosy, susceptiblity to, 6}
charcot-marie-tooth disease, axonal, type 2k
retinitis pigmentosa with or without situs inversus
charcot-marie-tooth disease, axonal, type 2n
charcot-marie-tooth disease, axonal, type 2m
apoa-i and apoc-iii deficiency, combined
charcot-marie-tooth disease, axonal, type 2g
charcot-marie-tooth disease, axonal, type 2f
{alkaline phosphatase, plasma level of, qtl1}
pulmonary venoocclusive disease 1
pulmonary venoocclusive disease 2
lymphoproliferative syndrome, x-linked, 1
lymphoproliferative syndrome, x-linked, 2
sulfite oxidase deficiency Abnormally reduced sulfite oxidase activity.
question mark ears, isolated
esophageal carcinoma, somatic
epilepsy, progressive myoclonic 4, with or without renal failure
charcot-marie-tooth disease, axonal, type 20
{microvascular complications of diabetes 7}
[blood group, kell]
albinism, brown oculocutaneous
{hiv infection, susceptibility/resistance to}
chromosome 1q43-q44 deletion syndrome
cleidocranial dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
wiskott-aldrich syndrome 2
myxoid liposarcoma OMIM mapping confirmed by DO. [SN].
mhc class ii deficiency, complementation group b
amyotrophic lateral sclerosis 21
amyotrophic lateral sclerosis 20 A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple cafƩ-au-lait macules with or without axillary or inguinal freckling.
mononeuropathy of the median nerve, mild
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
?epileptic encephalopathy, early infantile, 21
waardenburg syndrome/ocular albinism, digenic
chromosome 13q14 deletion syndrome
ataxia-ocular apraxia-2
craniofacial-deafness-hand syndrome
{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.
cardiomyopathy, dilated, 3b
xfe progeroid syndrome
[blood group, radin]
{inflammatory bowel disease 4}
hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1)
renal glucosuria
ciliary dyskinesia, primary, 7, with or without situs inversus
{colorectal cancer, susceptibility to, 6}
cpt deficiency, hepatic, type ii
myeloid leukemia, acute, m4/m4eo subtype, somatic
primrose syndrome
exudative vitreoretinopathy 3
hypothyroidism, central, and testicular enlargement
episodic muscle weakness, x-linked
exudative vitreoretinopathy 4
exudative vitreoretinopathy 5
laurin-sandrow syndrome
weill-marchesani syndrome 1, recessive
salla disease
loeys-dietz syndrome, type 4
gyrate atrophy of choroid and retina with or without ornithinemia
cardiomyopathy, familial hypertrophic
erythremias, alpha-
deafness, autosomal recessive 42
deafness, autosomal recessive 40
deafness, autosomal recessive 46
deafness, autosomal recessive 45
deafness, autosomal recessive 44
alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
deafness, autosomal recessive 48
{influenza, severe, susceptibility to}
charcot-marie-tooth neuropathy, x-linked dominant, 1
{buruli ulcer, susceptibility to}
{hirschsprung disease, susceptibility to, 9}
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.
osteoarthritis with mild chondrodysplasia
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
fraser syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
chromosome 2q31.2 deletion syndrome
[plasma glucose, 2-hour, qtl 1]
retinitis pigmentosa, concentric
{coronary heart disease, susceptibility to}
muscular dystrophy, congenital
?spinocerebellar ataxia 40
miles-carpenter syndrome
ritscher-schinzel syndrome 3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome.
{breast-ovarian cancer, familial, susceptibility to, 3}
corneal endothelial dystrophy 2, autosomal recessive
[sprinting performance]
lymphoma, non-hodgkin
?cardiomyopathy, dilated, 1t
merkel cell carcinoma, somatic
limb-girdle muscular dystrophy, type 1g
diabetes mellitus, ketosis-prone OMIM mapping confirmed by DO. [SN].
?deafness, autosomal recessive 44
periodontitis, aggressive, 2
dermatopathia pigmentosa reticularis
omenn syndrome A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
[blood group, kidd]
erythrocytosis due to bisphosphoglycerate mutase deficiency
van buchem disease, type 2
pancreatic cancer/melanoma syndrome
aromatase excess syndrome
{prostate cancer, hereditary, 14}
{leprosy, susceptibility to, 5}
chromosome 6q11-q14 deletion syndrome
leukoencephalopathy with metaphyseal chondrodysplasia
acne inversa, familial, 1
atrial fibrillation, familial, 9
atrial fibrillation, familial, 8
atrial fibrillation, familial, 7
atrial fibrillation, familial, 6
atrial fibrillation, familial, 4
atrial fibrillation, familial, 3
atrial fibrillation, familial, 2
{kala-azar, susceptibility to, 3}
immunodeficiency 35
ectodermal dysplasia/skin fragility syndrome
immunodeficiency 30
immunodeficiency 33
thyroid hormone resistance, selective pituitary
alzheimer disease 17
hypermanganesemia with dystonia, polycythemia, and cirrhosis
severe combined immunodeficiency, b cell-negative
[telomere length, mean leukocyte]
{coronary artery disease, resistance to}
[earwax, wet/dry]
{porphyria cutanea tarda, susceptibility to}
{prostate cancer, susceptibility to, 3}
gout, prps-related
machado-joseph disease A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
riboflavin deficiency
{major affective disorder 3, early onset}
[skin/hair/eye pigmentation 4, fair/dark skin]
tropical calcific pancreatitis
nemaline myopathy 7, autosomal recessive
ectopia lentis, familial
cutis laxa, autosomal recessive, type iia
cutis laxa, autosomal recessive, type iib
mucopolysaccharidosis ih/s
thrombocythemia, x-linked
central core disease OMIM mapping confirmed by DO. [SN].
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.
sorsby fundus dystrophy
acid-labile subunit, deficiency of
sudden infant death with dysgenesis of the testes syndrome
hypophosphatemic rickets, autosomal dominant
coloboma, ocular
neuropathy, hereditary motor and sensory, russe type
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
sed, namaqualand type
gnathodiaphyseal dysplasia
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants
growth retardation, developmental delay, coarse facies, and early death
endometrial carcinoma, somatic
thalassemia due to hb lepore
platelet disorder, familial, with associated myeloid malignancy
maturity-onset diabetes of the young 6
myelodysplastic syndrome, somatic
retinitis pigmentosa 7 and digenic
immunodeficiency 34, mycobacteriosis, x-linked
{mental health wellness-2}
doyne honeycomb degeneration of retina
keratoderma, palmoplantar, punctate type ia
keratoderma, palmoplantar, punctate type ib
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
osteopoikilosis An osteosclerosis that results_in numerous bone islands located_in skeleton.
cardiomyopathy, dilated, 1ff
sialidosis, type i
hemangioblastoma, cerebellar, somatic
methylmalonic aciduria, cbld type, variant 2
?n syndrome
aspartylglucosaminuria OMIM mapping confirmed by DO. [SN].
hawkinsinuria
muscular dystrophy with rimmed vacuoles
{myocardial infarction, susceptibility to, 2}
{systemic lupus erythematosus, susceptibility to, 7}
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.
retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
athabaskan brainstem dysgenesis syndrome OMIM mapping confirmed by DO. [SN].
argininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
deafness, autosomal dominant, with peripheral neuropathy
mental retardation, x-linked
hereditary motor and sensory neuropathy, proximal type
craniosynostosis and dental anomalies
mental retardation, x-linked syndromic, abidi type
trichodontoosseous syndrome
focal facial dermal dysplasia 4 Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
cataract 16, multiple types
{thyrotoxic periodic paralysis, susceptibility to, 2}
pseudohypoparathyroidism, type ib
diarrhea 3, secretory sodium, congenital, syndromic
severe combined immunodeficiency, athabascan type 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.
propionicacidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
{long qt syndrome, acquired, reduced susceptibility to}
[hex a pseudodeficiency]
{systemic lupus erythematosus, susceptibility to, 13}
[hyperphenylalaninemia, non-pku mild]
{autoimmune thyroid disease, susceptibility to, 4}
lenz-majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
[body mass index qtl2]
capillary malformation-arteriovenous malformation
huntington disease A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
?glycogen storage disease xv
retinal arterial macroaneurysm with supravalvular pulmonic stenosis
myxoma, intracardiac
rickets due to defect in vitamin d 25-hydroxylation
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.
{osteoarthritis susceptibility 2}
hypomagnesemia 3, renal
[birth weight qtl4]
hypogonadotropic hypogonadism 19 with or without anosmia
parathyroid adenoma with cystic changes
polycystic kidney disease, infantile severe, with tuberous sclerosis
glomerulosclerosis, focal segmental, 1
glomerulosclerosis, focal segmental, 2
glomerulosclerosis, focal segmental, 3
glomerulosclerosis, focal segmental, 5
glomerulosclerosis, focal segmental, 6
glomerulosclerosis, focal segmental, 7
{coronary heart disease, susceptibility to, 5}
{intelligence qtl1}
squamous cell carcinoma, head and neck, somatic
shprintzen-goldberg syndrome
osteochondritis dissecans, short stature, and early-onset osteoarthritis
monocarboxylate transporter 1 deficiency
nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)
{diabetes, type 2}
neuropathy, distal hereditary motor, type va
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
bladder cancer, somatic
{migraine with or without aura, susceptibility to, 5}
rhabdomyosarcoma, embryonal, 2
cataract 15, multiple types
acropectoral syndrome
{prostate cancer/brain cancer susceptibility, somatic}
diabetes mellitus, noninsulin-dependent, late onset
schwannomatosis
d-2-hydroxyglutaric aciduria 2
{systemic lupus erythematosus, susceptibility to, 3}
{alkaline phosphatase, plasma level of, qtl3}
cutaneous telangiectasia and cancer syndrome, familial
{restless legs syndrome 5}
split-hand/foot malformation with long bone deficiency 3
split-hand/foot malformation with long bone deficiency 2
split-hand/foot malformation with long bone deficiency 1
?preauricular fistulae, congenital
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
optic atrophy 3 with cataract
gastroesophageal reflux Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
?multiple congenital anomalies-hypotonia-seizures syndrome 3
methylmalonic aciduria and homocystinuria, cblj type
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.
{pulmonary fibrosis, idiopathic, susceptibility to}
neurofibromatosis, familial spinal
?familial cold autoinflammatory syndrome 4
{prostate cancer, hereditary, x-linked 2}
hereditary motor and sensory neuropathy, type iic
alpha-2-plasmin inhibitor deficiency
hypocalciuric hypercalcemia, type i
tyrosinemia, type ib
hypertension with brachydactyly
hyperekplexia 2, autosomal recessive
tyrosinemia, type ii A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
lung cancer A respiratory system cancer that is located_in the lung.
{atrioventricular septal defect, susceptibility to, 2}
thyroid carcinoma, follicular
[lean body mass qtl 1]
brown-vialetto-van laere syndrome 2
brown-vialetto-van laere syndrome 1
thyroid carcinoma, papillary, with papillary renal neoplasia
combined sap deficiency
multiple sulfatase deficiency
chromosome 1q21.1 deletion syndrome OMIM mapping confirmed by DO. [LS].
mental retardation, with or without nystagmus
cardiomyopathy, dilated, 1a
cardiomyopathy, dilated, 1g
cardiomyopathy, dilated, 1d
cardiomyopathy, dilated, 1e
cerebral amyloid angiopathy, prnp-related
cardiomyopathy, dilated, 1k
cardiomyopathy, dilated, 1h
cardiomyopathy, dilated, 1i
cardiomyopathy, dilated, 1n
cardiomyopathy, dilated, 1o
cardiomyopathy, dilated, 1l
cardiomyopathy, dilated, 1m
cardiomyopathy, dilated, 1r
cardiomyopathy, dilated, 1s
cardiomyopathy, dilated, 1p
cardiomyopathy, dilated, 1q
cardiomyopathy, dilated, 1v
cardiomyopathy, dilated, 1w
cardiomyopathy, dilated, 1u
cardiomyopathy, dilated, 1z
cardiomyopathy, dilated, 1x
cardiomyopathy, dilated, 1y
d-glyceric aciduria
cardiomyopathy, dilated, 1kk
{inflammatory bowel disease 6}
parkinson disease 6, early onset
hypoparathyroidism-retardation-dysmorphism syndrome
myelofibrosis with myeloid metaplasia, somatic
otopalatodigital syndrome, type i
spastic paraplegia 10, autosomal dominant
deafness, neurosensory, without vestibular involvement, autosomal dominant
nephrotic syndrome, type 8
pseudohypoaldosteronism type i, autosomal dominant
aica-ribosiduria due to atic deficiency
deafness, congenital heart defects, and posterior embryotoxon
peroxisome biogenesis disorder 12a (zellweger)
neutropenia, severe congenital 4, autosomal recessive
{dermatitis, atopic, susceptibility to, 6}
renal tubular acidosis, distal, autosomal recessive
deafness, autosomal recessive 68
renal tubular dysgenesis A developmental defect characterized by absence or poor development of proximal renal tubules.
deafness, autosomal recessive 61
deafness, autosomal recessive 63
deafness, autosomal recessive 62
deafness, autosomal recessive 65
deafness, autosomal recessive 67
deafness, autosomal recessive 66
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.
{stature qtl 18}
perrault syndrome 5
perrault syndrome 4
perrault syndrome 3
perrault syndrome 2
perrault syndrome 1
gallbladder disease 1
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.
arrhythmogenic right ventricular dysplasia 2
carboxylesterase 1 deficiency
{venous thromboembolism, susceptibility to}
renal cell carcinoma, papillary, 1, familial and somatic
aicardi-goutieres syndrome 6
aicardi-goutieres syndrome 7
aicardi-goutieres syndrome 4
fletcher factor deficiency
aicardi-goutieres syndrome 2
aicardi-goutieres syndrome 3
osteogenesis imperfecta, type iii
?spinocerebellar ataxia 26
{exfoliation syndrome, susceptibility to}
spondyloepimetaphyseal dysplasia with joint laxity, type 2
mucolipidosis ii alpha/beta
autonomic nervous system dysfunction
epidermylysis bullosa simplex-mcr
bohring-opitz syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8
trigonocephaly 2
cholestasis, benign recurrent intrahepatic
amyloidosis, finnish type
{hiv/aids, susceptibility to}
hypocalciuric hypercalcemia, type ii
{malaria, cerebral, reduced risk of}
{systemic lupus erythematosus with hemolytic anemia}
{narcolepsy 4}
[blood group, yt system]
osteopathia striata with cranial sclerosis
erythrokeratodermia variabilis with erythema gyratum repens
?spastic paraplegia 41, autosomal dominant
usher syndrome, type 2c, gpr98/pdzd7 digenic
von hippel-lindau syndrome OMIM mapping confirmed by DO. [LS].
bone marrow failure syndrome 2
bone marrow failure syndrome 1
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
mitochondrial myopathy and sideroblastic anemia 1
bietti crystalline corneoretinal dystrophy OMIM mapping confirmed by DO. [SN].
cerebral palsy, spastic quadriplegic, 1
partington syndrome
retinal dystrophy, early-onset, and pituitary dysfunction
immunodeficiency 18
immunodeficiency 19
hypophosphatasia, infantile
malouf syndrome
immunodeficiency 15
immunodeficiency 12
immunodeficiency 10
immunodeficiency 11
albinism, oculocutaneous, type vi
{asthma-related traits, susceptibility to, 4}
diabetes mellitus, gestational
peroxisome biogenesis disorder 8a, (zellweger)
complement factor h deficiency
{parkinson disease 16}
?multiple synostoses syndrome 3
bowen-conradi syndrome OMIM mapping confirmed by DO. [SN].
hypoaldosteronism, congenital, due to cmo i deficiency
hypokalemic periodic paralysis, type 2
hypokalemic periodic paralysis, type 1
scurvy OMIM mapping confirmed by DO. [SN].
orthostatic intolerance
refsum disease OMIM mapping confirmed by DO. [SN].
[blood group, p1pk system, p(k) phenotype]
glioblastoma, somatic
{preterm premature rupture of the membranes, susceptibility to}
amyotrophic lateral sclerosis 5, juvenile recessive
[high density lipoprotein cholesterol level qtl 9]
multiple synostoses syndrome 1
multiple synostoses syndrome 2
{hypertension, diastolic, resistance to}
scapuloperoneal syndrome, myopathic type
{myocardial infarction susceptibility}
trichothiodystrophy, complementation group a
{lung cancer, resistance to}
opitz gbbb syndrome, type ii
nephropathy, progressive, with deafness
alzheimer disease, type 3, with spastic paraparesis and unusual plaques
lissencephaly 1
lissencephaly 3
lissencephaly 5
chondrodysplasia, grebe type
papillorenal syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
diabetes, permanent neonatal
leigh syndrome due to mitochondrial cox4 deficiency
ectodermal dysplasia 8, hair/tooth/nail type
adrenocortical tumor, somatic,
paraganglioma and gastric stromal sarcoma
{menarche, age at, qtl2}
macular degeneration, age-related, 11
tyrosinemia, type iii A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
{abacavir hypersensitivity, susceptibility to}
{hiv infection, resistance to}
hypocalcemia, autosomal dominant, with bartter syndrome
miller syndrome Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
waardenburg syndrome, type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
waardenburg syndrome, type 3
cat eye syndrome
{carotid stenosis, susceptibility to}
bleeding disorder, east texas type
{attention deficit-hyperactivity disorder, susceptibility to, 7}
persistent mullerian duct syndrome, type ii
myotubular myopathy, x-linked
schimke immunoosseous 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.
poikiloderma with neutropenia
adult i phenotype without cataract
{leprosy, paucibacillary type, susceptibility to}
ovalocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
congenital disorder of glycosylation, type iil
erythrocytosis, somatic
{multiple sclerosis, susceptibility to, 5}
oocyte maturation defect
platelet plc beta-2 deficiency
{systemic lupus erthematosus, susceptibility to, 15}
{systemic lupus erythematosus, susceptibility to, 9}
immunodeficiency 31c, autosomal dominant
townes-brocks branchiootorenal-like syndrome
blood group--lutheran inhibitor
ptosis, hereditary congenital 2
gaze palsy, horizontal, with progressive scoliosis
chondrodysplasia punctata, rhizomelic, type 2
cataract 11, syndromic
star syndrome This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
autoimmune lymphoproliferative syndrome type iv RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
{multiple sclerosis, susceptibility to, 1}
{coronary heart disease, susceptibility to, 7}
macular degeneration, age-related, 3
progressive external ophthalmoplegia, autosomal dominant
ectodermal dysplasia, hypohidrotic, with immune deficiency
macular degeneration, age-related, 6
stickler syndrome, type ii
cardiomyopathy, familial hypertrophic, 20
ichthyosis, congenital, autosomal recessive 5
ichthyosis, congenital, autosomal recessive 6
ichthyosis, congenital, autosomal recessive 7
{leprosy, susceptibility to}
ichthyosis, congenital, autosomal recessive 1
ichthyosis, congenital, autosomal recessive 2
ichthyosis, congenital, autosomal recessive 3
{intelligence qtl3}
ichthyosis, congenital, autosomal recessive 8
ichthyosis, congenital, autosomal recessive 9
narcolepsy 6
narcolepsy 7
esophageal cancer, somatic
narcolepsy 2
narcolepsy 3
{fatty liver disease, nonalcoholic, susceptibility to, 1}
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete OMIM mapping confirmed by DO. [SN].
hypogonadotropic hypogonadism with or without anosmia
spastic paraplegia 4, autosomal dominant
hyperchylomicronemia, late-onset
[skin/hair/eye pigmentation 5, dark/light eyes]
thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
tuberous sclerosis-1
tuberous sclerosis-2
leukoencephalopathy, cystic, without megalencephaly
glycogen storage disease x
epidermolysis bullosa simplex, recessive 1
macular degeneration, juvenile
{migraine with or without aura, susceptibility to, 3}
alpha-methylacyl-coa racemase deficiency Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
?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).
{rheumatoid arthritis, systemic juvenile}
nemaline myopathy 3, autosomal dominant or recessive
cystinosis, ocular nonnephropathic
arthrogryposis multiplex congenita, distal, type 1
schopf-schulz-passarge syndrome
citrullinemia, type ii, neonatal-onset
chromosome 15q11.2 deletion syndrome
protoporphyria, erythropoietic, x-linked
emery-dreifuss muscular dystrophy 6, x-linked
spermatogenic failure, x-linked, 2
epstein syndrome
prader-willi-like syndrome
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2
pancreatic carcinoma, somatic
nephronophthisis 1, juvenile
glycogen storage disease xi
myopia 21, autosomal dominant
baller-gerold syndrome OMIM mapping confirmed by DO. [SN].
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.
{ischemic stroke, susceptibility to}
aldosterone to renin ratio raised
short-rib thoracic dysplasia 8 with or without polydactyly
cayler cardiofacial syndrome
weyers acrodental dysostosis Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence.
?mirror movements 3
sinoatrial node dysfunction and deafness
leukemia-2, t-cell acute lymphoblastic
tumoral calcinosis, familial, normophosphatemic
night blindness, congenital stationary (complete), 1d, autosomal recessive
?hydroxykynureninuria
renal tubular acidosis, proximal, with ocular abnormalities
macular degeneration, x-linked atrophic
autoimmune disease, multisystem, with facial dysmorphism
paragangliomas 5
coloboma of optic nerve OMIM mapping confirmed by DO. [SN].
muscular dystrophy with epidermolysis bullosa simplex
myopathy, myofibrillar, 1
{autism susceptibility, x-linked 1}
myopathy, myofibrillar, 3
myopathy, myofibrillar, 4
myopathy, myofibrillar, 5
{autism, susceptibility to, 19}
amelogenesis imperfecta type, iia4
diabetes mellitus, permanent neonatal, with neurologic features
chromosome 3q29 microduplication syndrome
microphthalmia, syndromic 9
microphthalmia, syndromic 5
microphthalmia, syndromic 7
microphthalmia, syndromic 6
microphthalmia, syndromic 3
microphthalmia, syndromic 2
methylmalonic aciduria due to transcobalamin receptor defect
von willibrand disease, type 3
chronic granulomatous disease due to deficiency of ncf-2
chronic granulomatous disease due to deficiency of ncf-1
osteomalacia, tumor-induced
short stature with microcephaly and distinctive facies
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.
polymicrogyria, bilateral frontoparietal
homocystinuria-megaloblastic anemia, cbl e type
arthropathy, progressive pseudorheumatoid, of childhood
usher syndrome type 3b
?male infertility
{human herpesvirus 8, susceptibility to}
[thyroid-stimulating hormone level qtl 1]
{amyotrophic lateral sclerosis, susceptibility to, 13}
branchiootorenal syndrome 1, with or without cataracts
aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
hyper-igd syndrome Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
nanophthalmos-1
?mitochondrial complex iii deficiency, nuclear type 9
?mitochondrial complex iii deficiency, nuclear type 8
arthrogryposis multiplex congenita, distal, type 2b
?mitochondrial complex iii deficiency, nuclear type 7
{celiac disease, susceptibility to, 6}
?mitochondrial complex iii deficiency, nuclear type 2
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
stargardt disease 3
stargardt disease 1 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
ectodermal dysplasia-syndactyly syndrome 2
stargardt disease 4
[blood group, vel system]
spastic paraplegia 50, autosomal recessive
muscle strength quantitative trait locus 1
charcot-marie-tooth disease, type 2b1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
charcot-marie-tooth disease, type 2b2
?deafness, autosomal recessive 88
cerebral creatine deficiency syndrome 2
cerebral creatine deficiency syndrome 3 An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
cirrhosis, cryptogenic
heterotaxy, visceral, 5
dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
choreoathetosis, hypothyroidism, and neonatal respiratory distress
atelosteogenesis, type iii Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
cone-rod dystropy, x-linked, 3
tay-sachs disease OMIM mapping confirmed by DO. [SN].
subcortical laminal heteropia, x-linked
{asthma-related traits, susceptibility to, 6}
aortic valve disease 1
spastic paraplegia 44, autosomal recessive
{lung cancer susceptibility 2}
schizencephaly The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
dursun syndrome
glomuvenous malformations
basal cell carcinoma, somatic
specific language impairment qtl, 2
{drug addiction, susceptibility to}
?spastic paraplegia 63
adenosine deaminase deficiency, partial
[creatine kinase, brain type, ectopic expression of]
spastic paraplegia 15, autosomal recessive
otopalatodigital syndrome, type ii
supravalvar aortic stenosis a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root
buschke-ollendorff syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
night blindness, congenital stationary (incomplete), 2a, x-linked
t-cell acute lymphoblastic leukemia, somatic
{inflammatory bowel disease 14}
left ventricular noncompaction 5
pituitary hormone deficiency, combined, 1
pituitary hormone deficiency, combined, 2
pituitary hormone deficiency, combined, 3
squamous cell carcinoma, burn scar-related, somatic
pituitary hormone deficiency, combined, 5
pituitary hormone deficiency, combined, 6
smed strudwick type
{aplastic anemia} An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
corpus callosum, partial agenesis of
[bone mineral density qtl 6]
mcleod syndrome with or without chronic granulomatous disease
?mitochondrial complex iv deficiency OMIM mapping confirmed by DO. [SN].
hyperphenylalaninemia, bh4-deficient, d
cutis laxa, autosomal dominant 2
hyperphenylalaninemia, bh4-deficient, a
hyperphenylalaninemia, bh4-deficient, b
hyperphenylalaninemia, bh4-deficient, c
{systemic lupus erythematosus, susceptitbility to, 11}
ataxia-oculomotor apraxia 3
adenoma, periampullary, somatic
?antiphospholipid syndrome, familial
[transferrin serum level qtl2]
atrioventricular septal defect 3
atrioventricular septal defect 4
atrioventricular septal defect 5
kufor-rakeb syndrome
deafness, autosomal recessive 9
deafness, autosomal recessive 2
deafness, autosomal recessive 3
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related
deafness, autosomal recessive 6
deafness, autosomal recessive 7
myopathy, lactic acidosis, and sideroblastic anemia 2
thalassemias, beta-
{podoconiosis, susceptibility to}
{hiv-1 disease, rapid progression of}
{restless legs syndrome 7}
{attention deficit-hyperactivity disorder, susceptibility to, 5}
sacral agenesis with vertebral anomalies
{smoking as a quantitative trait locus 1}
conotruncal anomaly face syndrome
mental retardation, x-linked syndromic 7
mental retardation, x-linked syndromic 5
ceroid lipofuscinosis, neuronal, 4, parry type
synpolydactyly, type ii
[uric acid concentration, serum, qtl1]
kohlschutter-tonz syndrome
eosinophil peroxidase deficiency
mitochondrial dna depletion syndrome 1 (mngie type)
retinitis pigmentosa, y-linked
frontotemporal lobar degeneration with ubiquitin-positive inclusions
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
{glioma, susceptibility to, somatic}
{opioid dependence, susceptibility to, 1}
minicore myopathy with external ophthalmoplegia
sed congenita
basal ganglia calcification, idiopathic, 5
basal ganglia calcification, idiopathic, 4
basal ganglia calcification, idiopathic, 2
basal ganglia calcification, idiopathic, 1
{coronary heart disease, susceptibility to, 9}
{multiple sclerosis, susceptibility to, 3}
immunodeficiency 18, scid variant
{hyperlipidemia, familial combined, susceptibility to}
{alzheimer disease, susceptibility to}
{stroke, susceptibility to, 1}
[body mass index qtl6]
{cystic fibrosis lung disease, modifier of}
digeorge syndrome/velocardiofacial syndrome complex-2
peroxisome biogenesis disorder 1b (nald/ird)
ehlers-danlos syndrome, cardiac valvular form
alpha-thalassemia/mental retardation syndrome, type 1
galactosialidosis
{migraine with or without aura, susceptibility to, 1}
mullerian aplasia and hyperandrogenism
obesity with impaired prohormone processing
{prostate cancer, hereditary, 15}
{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.
{diabetes mellitus, type ii, susceptibility to}
tumoral calcinosis, hyperphosphatemic, familial
liposarcoma A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.
deafness , autosomal recessive 86
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.
[blood group, ss]
renal cell carcinoma, somatic
hepatocellular cancer, somatic
arrhythmogenic right ventricular dysplasia, familial, 13
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
traboulsi syndrome
nail disorder, nonsyndromic congenital, 9
thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
spinal muscular atrophy, lower extremity-predominant, 2, ad
{schistosoma mansoni infection, susceptibility/resistance to}
{hodgkin disease susceptibility, pseudoautosomal}
46xy sex reversal 2, dosage-sensitive
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.
neuropathy, recurrent, with pressure palsies
{hepatitic c virus, susceptibility to}
{autism susceptibility, x-linked 3}
leiomyomatosis and renal cell cancer
c1s deficiency
nystagmus 3, congenital, autosomal dominant
microcephalic osteodysplastic primordial dwarfism, type i
schimmelpenning-feuerstein-mims syndrome, somatic mosaic
myopia-2
myopia-3
myopia-1
{obsessive-compulsive disorder, susceptibility to}
galactose epimerase deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism.
?hyperphosphatasia with mental retardation syndrome 5
{inflammatory bowel disease 2}
alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
{colorectal cancer, susceptibility to, 8}
?thrombocytopenia, paris-trousseau type
?hyperleucinemia-isoleucinemia or hypervalinemia
enterokinase deficiency
{?allergy and asthma susceptibility}
premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
{mycobacterium tuberculosis, susceptibility to, 3}
[respiratory rhythmicity in sleep]
[fasting plasma glucose level qtl 1]
{aneurysm, intracranial berry, 9}
adrenocortical insufficiency
mandibuloacral dysplasia with type b lipodystrophy
{age-related hearing impairment 1}
mental retardation, autosomal recessive 41
xeroderma pigmentosum, group e, ddb-negative subtype
corneal dystrophy, lattice type i
hemophilia a
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.
hypophosphatemic rickets, x-linked dominant A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.
familial mediterranean fever, ad
glaucoma 1k, primary open angle, juvenile-onset
deafness, autosomal recessive 25
deafness, autosomal recessive 24
deafness, autosomal recessive 27
deafness, autosomal recessive 26
deafness, autosomal recessive 21
deafness, autosomal recessive 20
deafness, autosomal recessive 23
deafness, autosomal recessive 22
terminal osseous dysplasia
deafness, autosomal recessive 29
deafness, autosomal recessive 28
ciliary dyskinesia, primary, 1, with or without situs inversus
hypomyelination, global cerebral
chromosome 3q13.31 deletion syndrome
desbuquois dysplasia 2
ceroid lipofuscinosis, neuronal, 3
beta-2-adrenoreceptor agonist, reduced response to
cerebral-cerebellar-coloboma syndrome, x-linked
major depressive disorder 1
major depressive disorder 2
{autoimmune thyroid disease, susceptibility to, 1}
mitochondrial recessive ataxia syndrome (includes sando and scae)
[high density lipoprotein cholesterol level qtl6]
blepharophimosis, epicanthus inversus, and ptosis, type 1
blepharophimosis, epicanthus inversus, and ptosis, type 2
thoracoabdominal syndrome Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various congenital heart malformation (see this term). Ectopia cordis, (EC) dyspnea, cyanosis and lung infections are frequent.
?frontonasal dysplasia 3
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
{obesity, association with}
immunodeficiency with hyper igm, type 5
epiphyseal dysplasia, multiple, 3
epiphyseal dysplasia, multiple, 2
epiphyseal dysplasia, multiple, 5
epiphyseal dysplasia, multiple, 4
{gene expression, variation in, qtl}
fuhrmann syndrome
pontocerebellar hypoplasia, type 9 NT MGI.
pontocerebellar hypoplasia, type 8 NT MGI.
pontocerebellar hypoplasia, type 6 NT MGI.
{migraine, with or without aura, susceptibility to, 13}
corneal opacification and other ocular anomalies
microphthalmia with coloboma 6, digenic
retinopathy of prematurity
aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies
barrett esophagus/esophageal adenocarcinoma
?osteoporosis, involutional
andersen syndrome A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
{obsessive-compulsive disorder} An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.
vitelliform macular dystrophy 2
thyroid hormone metabolism, abnormal
neuropathy, inflammatory demyelinating
chromosome 4q32.1-q32.2 triplication syndrome
apolipoprotein c-iii deficiency
thalassemia, hispanic gamma-delta-beta
adams-oliver syndrome 2
adams-oliver syndrome 3
adams-oliver syndrome 1
adams-oliver syndrome 4
adams-oliver syndrome 5
mental retardation, x-linked 63
goeminne tkcr syndrome
?anal canal carcinoma An anal canal cancer that derives_from epithelial cells.
keratolytic winter erythema
retinitis pigmentosa, juvenile
citrullinemia An urea cycle disorder that involves the accumulation of ammonia in the blood.
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.
feingold syndrome 2
hashimoto thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
{metabolic syndrome, protection against}
hyperhidrosis palmaris et plantaris
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.
{inflammatory bowel disease 16}
n-terminal acetyltransferase deficiency 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.
cardiac valvular dysplasia, x-linked
brooke-spiegler syndrome OMIM mapping confirmed by DO. [SN].
sjogren-larsson syndrome OMIM mapping confirmed by DO. [LS].
cranioosteoarthropathy Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
[impdh2 enzyme activity, variation in]
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.
hajdu-cheney syndrome OMIM mapping confirmed by DO. [SN].
campomelic dysplasia with autosomal sex reversal
?spinocerebellar ataxia, x-linked 1
thrombosis, hyperhomocysteinemic
mass syndrome
{smoking as a quantitative trait locus 2}
{leukemia, acute lymphocytic, susceptibility to, 1}
hmg-coa lyase deficiency
thrombophilia, x-linked, due to factor ix defect
heterotopia, periventricular, ed variant
?hemochromatosis, type 5
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.
mucopolysaccharidosis type iiid
asthma and nasal polyps
rh-mod syndrome
retinitis pigmentosa 69
retinitis pigmentosa 68
retinitis pigmentosa 65
retinitis pigmentosa 64
retinitis pigmentosa 63
retinitis pigmentosa 62
retinitis pigmentosa 61
retinitis pigmentosa 60
cinca syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
sclerosteosis 1
sclerosteosis 2
hypothyroidism, congenital, nongoitrous
{hypogonadotropic hypogonadism 16 with or without anosmia}
porokeratosis 6
porokeratosis 7
nephrotic syndrome, type 9
medullary cystic kidney disease 2
medullary cystic kidney disease 1
juvenile polyposis syndrome, infantile form
nephrotic syndrome, type 1
nephrotic syndrome, type 3
nephrotic syndrome, type 2
nephrotic syndrome, type 4
nephrotic syndrome, type 7
nephrotic syndrome, type 6
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 3
[blood group, stoltzfus system]
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 6
arrhythmogenic right ventricular dysplasia 9
arrhythmogenic right ventricular dysplasia 8
photoparoxysmal response 1
photoparoxysmal response 3
photoparoxysmal response 2
meckel syndrome 5
meckel syndrome 4
meckel syndrome 7
meckel syndrome 6
meckel syndrome 1
meckel syndrome 3
meckel syndrome 2
{hypertrypsinemia, neonatal}
meckel syndrome 9
meckel syndrome 8
{toxic epidermal necrolysis, susceptibility to}
myopathy, distal, with anterior tibial onset
lymphoproliferative syndrome 1
46xx sex reversal 3
{lung cancer, protection against, in smokers}
congenital disorder of glycosylation, type iij Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
congenital disorder of glycosylation, type iik
congenital disorder of glycosylation, type iih
congenital disorder of glycosylation, type iii Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
?phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency
congenital disorder of glycosylation, type iim
congenital disorder of glycosylation, type iib
congenital disorder of glycosylation, type iic
congenital disorder of glycosylation, type iia
congenital disorder of glycosylation, type iif Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
congenital disorder of glycosylation, type iig Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism.
congenital disorder of glycosylation, type iid
congenital disorder of glycosylation, type iie
colorectal cancer A large intestine cancer that is located in the colon and/or located in the rectum.
lissencephaly 2 (norman-roberts type)
hypermethioninemia due to adenosine kinase deficiency
geleophysic dysplasia 1
anemia, hypochromic microcytic
asparagine synthetase deficiency
{thrombophilia, susceptibility to, due to factor v leiden}
paragangliomas 2
paragangliomas 3
geleophysic dysplasia 2
paragangliomas 4
{cerebral infarction, susceptibility to}
ceroid lipofuscinosis, neuronal, 10
ceroid lipofuscinosis, neuronal, 11
spastic paraplegia 36, autosomal dominant
mucolipidosis iii alpha/beta
?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
polymicrogyria with optic nerve hypoplasia
coenzyme q10 deficiency, primary, 6
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
coenzyme q10 deficiency, primary, 4
coenzyme q10 deficiency, primary, 5
coenzyme q10 deficiency, primary, 2
coenzyme q10 deficiency, primary, 3
coenzyme q10 deficiency, primary, 1
chromosome 18 pericentric inversion
corticosteroid-binding globulin deficiency
{schizophrenia 12}
peroxisome biogenesis disorder 3a (zellweger)
neurofibrosarcoma
n-acetylglutamate synthase deficiency
carnosinemia
{prostate cancer, hereditary, 13}
{leprosy, susceptibility to, 4}
inflammatory bowel disease 19
tetralogy of fallot OMIM mapping confirmed by DO. [LS].
diabetes mellitus, type 1
diabetes mellitus, type 2
{rheumatoid arthritis, systemic juvenile, susceptibility to}
proteus syndrome, somatic
ataxia, sensory, 1, autosomal dominant
{asperger syndrome susceptibility 4}
avascular necrosis of the femoral head
ceroid lipofuscinosis, neuronal, 8
keratosis, seborrheic, somatic
ceroid lipofuscinosis, neuronal, 2
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.
{melanoma, uveal, susceptibility to, 2}
ceroid lipofuscinosis, neuronal, 1
ceroid lipofuscinosis, neuronal, 6
ceroid lipofuscinosis, neuronal, 7
ceroid lipofuscinosis, neuronal, 5
spinocerebellar ataxia 23
neutropenia, alloimmune neonatal
spinocerebellar ataxia 21
spinocerebellar ataxia 20
spinocerebellar ataxia 27
spinocerebellar ataxia 25
spinocerebellar ataxia 28
atrial septal defect 7, with or without av conduction defects
orofaciodigital syndrome v
orofaciodigital syndrome i
mental retardation, autosomal recessive, 11
tetrasomy 18p
{gastric cancer risk after h. pylori infection}
episodic ataxia/myokymia syndrome
colorblindness, deutan
{amyotrophic lateral sclerosis, susceptibility to}
syndactyly, type iii
{basal cell carcinoma 7}
trichothiodystrophy OMIM mapping confirmed by DO. [SN].
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).
geniospasm Involuntary and irregular twitches of the chin.
polydactyly, preaxial, type iv
immunodeficiency 32a, mycobacteriosis, autosomal dominant
neuropathy, hereditary sensory and autonomic, type vii
malonyl-coa decarboxylase deficiency
methemoglobinemias, alpha-
[fasting plasma glucose level qtl 3]
deafness and myopia
myoglobinuria, acute recurrent, autosomal recessive
{diabetes mellitus, insulin-dependent, 8}
bifid nose with or without anorectal and renal anomalies 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).
{psoriasis susceptibility 6}
hypophosphatasia, adult
denys-drash syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
{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.
gm1-gangliosidosis, type ii
bartter syndrome, type 3 Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
dopamine receptor d2, reduced brain density of
?n-acetylaspartate deficiency
microcornea, myopic chorioretinal atrophy, and telecanthus
cavernous malformations of cns and retina
ceroid lipofuscinosis, neuronal, 13, kufs type
mental retardation, autosomal recessive 5
bartter syndrome, type 1
{celiac disease, susceptibility to, 2}
sandhoff disease, infantile, juvenile, and adult forms
immunodeficiency 27a, mycobacteriosis, ar
long qt syndrome-3
popliteal pterygium syndrome 1
wegener granulomatosis An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
bartter syndrome, type 4b, digenic
emery-dreifuss muscular dystrophy 1, x-linked
?mental retardation, x-linked 101
?mental retardation, x-linked 100
diabetes mellitus, insulin-dependent, 2
cataract 18, autosomal recessive
mental retardation, x-linked syndromic, turner type
?deafness, autosomal dominant 4b
epilepsy, nocturnal frontal lobe, type 4
epilepsy, nocturnal frontal lobe, type 2
spinal muscular atrophy, distal, x-linked 3
gapo syndrome GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
androgen insensitivity, partial, with or without breast cancer
exostoses, multiple, type 2
exostoses, multiple, type 3
exostoses, multiple, type 1
anonychia congenita OMIM mapping confirmed by DO. [SN].
mental retardation, x-linked 49
mental retardation, x-linked 41
mental retardation, x-linked 42
mental retardation, x-linked 45
mental retardation, x-linked 46
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.
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
{macular degeneration, age-related, 1}
amelogenesis imperfecta, type iv
thyroid hormone resistance, autosomal recessive
?aplasia cutis congenita, nonsyndromic
amelogenesis imperfecta, type ic
amelogenesis imperfecta, type ib
{alzheimer disease 16}
tetra-amelia, autosomal recessive
hypogonadotropic hypogonadism 17 with or without anosmia
[?hyperproglucagonemia]
{inflammatory bowel disease 10}
mental retardation, x-linked syndromic, lubs type
epilepsy, focal, with speech disorder and with or without mental retardation
kenny-caffey syndrome, type 2
microcephalic osteodysplastic primordial dwarfism, type ii Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
[ezetimibe, nonresponse to]
camurati-engelmann disease An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
b-cell non-hodgkin lymphoma, high-grade
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
glutamine deficiency, congenital
factor xi deficiency, autosomal recessive
{debrisoquine sensitivity}
hereditary motor and sensory neuropathy vi
sialic acid storage disorder, infantile
[blood group, lewis]
ventricular fibrillation, familial, 1
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
nephropathy with pretibial epidermolysis bullosa and deafness
{h. pylori infection, susceptibility to}
immunodeficiency-centromeric instability-facial anomalies syndrome 1
wilms tumor 2
[amp deaminase deficiency, erythrocytic]
acute insulin response
?cataract, congenital A congenital cataract.
immunodeficiency due to defect in mapbp-interacting protein
[low density lipoprotein cholesterol level qtl6]
becker muscular dystrophy OMIM mapping confirmed by DO. [SN].
geroderma osteodysplasticum
aniridia OMIM mapping confirmed by DO. [SN].
robinow syndrome, autosomal recessive
progressive external ophthalmoplegia with mitochondrial dna deletions 3
retinitis pigmentosa 49
retinitis pigmentosa 48
erythrokeratodermia variabilis et progressiva
norum disease OMIM mapping confirmed by DO. [SN].
?mental retardation, autosomal dominant 11
retinitis pigmentosa 42
retinitis pigmentosa 45
retinitis pigmentosa 44
retinitis pigmentosa 47
retinitis pigmentosa 46
retinitis punctata albescens 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.
leigh syndrome due to cytochrome c oxidase deficiency
?breast cancer, type 3
{epilepsy, juvenile myoclonic, susceptibility to, 6}
epidermolysis bullosa, junctional, herlitz type
deafness, autosomal dominant 36, with dentinogenesis
corneal dystrophy, posterior polymorphous 2
opsismodysplasia
homocystinuria-megaloblastic anemia, cblg complementation type
rippling muscle disease-1
epilepsy, juvenile myoclonic 3
anosmia, isolated congenital
{systemic lupus erythematosus, susceptibility to}
emery-dreifuss muscular dystrophy 5, autosomal dominant
{major affective disorder 6}
mulibrey nanism OMIM mapping confirmed by DO. [SN].
{tuberculosis, susceptibility to}
dandy-walker syndrome OMIM mapping confirmed by DO. [SN].
macrostomia Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
irak4 deficiency
larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
3p- syndrome
kyphoscoliosis 1
autoinflammation with infantile enterocolitis
retinal degeneration, autosomal recessive, clumped pigment type
cap myopathy 2
cap myopathy 1
nystagmus 6, congenital, x-linked
schindler disease, type iii
deafness, autosomal dominant 2a
deafness, autosomal dominant 2b
{leprosy, protection against}
?spastic paraplegia 72, autosomal recessive
diarrhea 5, with tufting enteropathy, congenital
wolman disease
{autism susceptibility 14a}
{leukemia, chronic lymphocytic, susceptibility to, 3}
deafness, autosomal dominant 21
deafness, autosomal dominant 23
deafness, autosomal dominant 22
deafness, autosomal dominant 25
deafness, autosomal dominant 24
deafness, autosomal dominant 27
deafness, autosomal dominant 28
migraine, familial hemiplegic, 2
migraine, familial hemiplegic, 3
migraine, familial hemiplegic, 1
{uv-induced skin damage}
{pregnancy loss, recurrent, susceptibility to, 2}
colon cancer, somatic
mitochondrial dna depletion syndrome 3 (hepatocerebral type)
encephalopathy, progressive, with or without lipodystrophy
muscular dystrophy, congenital, 1b
{otosclerosis 4}
dyssegmental dysplasia, silverman-handmaker type
methylmalonate semialdehyde dehydrogenase deficiency
epiphyseal chondrodysplasia, miura type
hemoglobin h disease, nondeletional
hypothryoidism, congenital, nongoitrous 4
osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass.
peroxisomal acyl-coa oxidase deficiency A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
myeloproliferative disorder with eosinophilia
{pancreatic cancer, susceptibility to, 4}
microphthalmia with coloboma 6
parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck.
mitochondrial dna depletion syndrome 7 (hepatocerebral type)
microphthalmia with coloboma 5
microphthalmia with coloboma 2
cataract 17, multiple types
{stature qtl 8}
microphthalmia with coloboma 1
cockayne syndrome, type b
cockayne syndrome, type a
alzheimer disease-11
alzheimer disease-10
frasier syndrome OMIM mapping confirmed by DO. [SN].
pituitary adenoma, growth hormone-secreting
microphthalmia, syndromic 14
{centronuclear myopathy, autosomal, modifier of}
{age-related maculopathy, susceptibility to}
{asperger syndrome susceptibility 2}
pyogenic bacterial infections, recurrent, due to myd88 deficiency
gracile bone dysplasia 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.
hypotrichosis 4
hypotrichosis 7
hypotrichosis 6
hypotrichosis 1
hypotrichosis 3
hypotrichosis 2
hypotrichosis 9
{epilepsy, idiopathic generalized, susceptibility to, 2}
{epilepsy idiopathic generalized, susceptibility to, 8}
{warfarin sensitivity}
spastic paraplegia 49, autosomal recessive
neurodegeneration due to cerebral folate transport deficiency
leukemia, acute t-cell
goiter, familial, due to ttf-1 defect
[bombay phenotype]
kanzaki disease Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
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.
weissenbacher-zweymuller syndrome
rieger syndrome, type 2
{malaria, intensity of infection}
{psoriasis susceptibility 4}
thrombocytopenia, congenital amegakaryocytic
band-like calcification with simplified gyration and polymicrogyria No OMIM mapping, confirmed by DO. [SN].
microcephaly 4, primary, autosomal recessive
deafness, autosomal dominant 17
{thyroid carcinoma, hurthle cell}
peroxisome biogenesis disorder 2b
muckle-wells syndrome
immunodeficiency 7, tcr-alpha/beta deficient
parkinson disease 7, autosomal recessive early-onset
short-rib thoracic dysplasia 2 with or without polydactyly
?fanconi renotubular syndrome 3
neuropathy, distal hereditary motor, type viib
{melanoma, cutaneous malignant, susceptibility to, 8}
cervical carcinoma Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.|A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.|A carcinoma that is located_in the cervix uteri or located_in the cervical area.|A carcinoma that affects the cervix uteri or cervical area.
hypoproteinemia, hypercatabolic
?precocious puberty, central, 1
usher syndrome, type 2a
osteopetrosis, autosomal recessive 2
osteopetrosis, autosomal recessive 1
osteopetrosis, autosomal recessive 7
osteopetrosis, autosomal recessive 6
osteopetrosis, autosomal recessive 5
osteopetrosis, autosomal recessive 4
osteopetrosis, autosomal recessive 8
odontoonychodermal dysplasia
{stature qtl 22}
chromosome 9p deletion syndrome
perlman syndrome
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia
cardiomyopathy, dilated, 2b
?breasts and/or nipples, aplasia or hypoplasia of, 2
deafness, x-linked 4
deafness, x-linked 3
deafness, x-linked 2
deafness, x-linked 1
{major affective disorder-9, susceptibility to}
thrombophilia due to thrombin defect
advanced sleep-phase syndrome, familial, 2
parasomnia, sleepwalking type
woolly hair, autosomal recessive 2 with or without hypotrichosis
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
dysplasminogenemia
lipase deficiency, combined
hypomagnesemia 6, renal
panhypopituitarism, x-linked
{aids, rapid progression to}
{bone mineral density, low, susceptibility to}
polyarteritis nodosa, childhood-onset
{malaria, protection against}
mental retardation, x-linked 23
mental retardation, x-linked 20
camptodactyly 1
[bone mineral density qtl 10]
chromosome 17q12 duplication syndrome
plasminogen deficiency, type i
bare lymphocyte syndrome, type ii, complementation group e
lymphoma, malt, somatic
spastic paraplegia 7, autosomal recessive
[glycerol quantitative trait locus]
ifap syndrome with or without bresheck syndrome
spondylocostal dysostosis 4, autosomal recessive
hydrocephalus with congenital idiopathic intestinal pseudoobstruction
muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils.
congenital heart defects, nonsyndromic, 2
{inflammatory bowel disease 12}
{meconium ileus in cystic fibrosis, susceptibility to}
mucopolysaccharidosis type ivb (morquio)
keratoderma, palmoplantar, with deafness
{basal cell carcinoma, susceptibility to, 1}
factor vii deficiency
{myocardial infarction, protection against}
brunner syndrome
pelger-huet anomaly OMIM mapping confirmed by DO. [SN].
charcot-marie-tooth disease, type 2b
charcot-marie-tooth disease, type 2d
charcot-marie-tooth disease, type 2e
charcot-marie-tooth disease, type 2j
hip dysplasia, beukes type
charcot-marie-tooth disease, type 2i
{lead poisoning, susceptibility to}
myopathy, congenital, with fiber-type disproportion
myelogenous leukemia, acute
acheiropody OMIM mapping confirmed by DO. [SN].
mental retardation, x-linked 29 and others
{meningioma, familial, susceptibility to}
leukocyte adhesion deficiency OMIM mapping confirmed by DO. [SN].
cholestasis, benign recurrent intrahepatic, 2
ciliary dyskinesia, primary, 30
deafness and male infertility
nasu-hakola disease Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
joubert syndrome 10
joubert syndrome 12
joubert syndrome 13
joubert syndrome 14
joubert syndrome 15
joubert syndrome 16
joubert syndrome 17
joubert syndrome 18
joubert syndrome 19
hyper-ige recurrent infection syndrome
dyserythropoietic anemia, congenital, type iv
pneumothorax, primary spontaneous
friedreich ataxia 2
paroxysmal nocturnal hemoglobinuria, somatic
[bilirubin, serum level of, qtl1]
{hypertension, essential, susceptibility to, 8}
lissencephaly 4 (with microcephaly)
retinitis pigmentosa 22
{restless legs syndrome 1}
retinitis pigmentosa 20
retinitis pigmentosa 27
retinitis pigmentosa 26
retinitis pigmentosa 25
retinitis pigmentosa 24
retinitis pigmentosa 29
retinitis pigmentosa 28
bazex syndrome
jawad syndrome
leukemia, acute myeloid
?craniofacioskeletal syndrome
{norwalk virus infection, resistance to}
neu-laxova syndrome1
{diabetes, type 2, susceptibility to}
tatton-brown-rahman syndrome
cleidocranial dysplasia, forme fruste, with brachydactyly
{diabetes mellitus, insulin-dependent, 15}
{venoocclusive disease after bone marrow transplantation}
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
restless legs syndrome, susceptibility to, 8
vertigo, benign recurrent, 2
?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
epilepsy, myoclonic, familial adult, 3
spastic paraplegia 3a, autosomal dominant
vohwinkel syndrome
immunodeficiency due to ficolin 3 deficiency
{wilms tumor susceptibility-5}
{lumbar disc disease, susceptibility to}
deafness, autosomal dominant 4a
chromosome xp21 deletion syndrome
klippel-trenaunay-weber syndrome A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
contractural arachnodactyly, congenital
ovarian cancer, somatic,
acetyl-coa carboxylase deficiency
alzheimer disease, type 3
{lumbar disc herniation, susceptibility to}
deafness, autosomal dominant 49
deafness, autosomal dominant 48
deafness, autosomal dominant 43
deafness, autosomal dominant 41
deafness, autosomal dominant 40
?lipodystrophy, familial partial, type 5
deafness, autosomal dominant 44
spastic paraplegia 54, autosomal recessive
optic nerve hypoplasia Underdevelopment of the optic nerve.
cataract 25
[skin/hair/eye pigmentation 9, brown/nonbrown eyes]
cataract 23
joubert syndrome-3
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.
hypophosphatemic rickets
paget disease of bone A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
tetrology of fallot
mitochondrial dna depletion syndrome 8b (mngie type)
hypocalciuric hypercalcemia, familial, type iii
oculomotor apraxia, congenital, cogan-type
may-hegglin anomaly
small patella syndrome
inclusion body myopathy-3 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
brugada syndrome 2
?hypotrichosis 13
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.
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
?abdominal obesity-metabolic syndrome 4
short stature, idiopathic familial
{celiac disease, susceptibility to, 11}
intestinal pseudoobstruction, neuronal
{neuroblastoma, susceptibility to, 4}
rhizomelic chondrodysplasia punctata, type 1
osteogenesis imperfecta, type x
proud syndrome
cortical dysplasia, complex, with other brain malformations 2
cortical dysplasia, complex, with other brain malformations 3
cortical dysplasia, complex, with other brain malformations 1
cortical dysplasia, complex, with other brain malformations 6
cortical dysplasia, complex, with other brain malformations 4
cortical dysplasia, complex, with other brain malformations 5
glutaricaciduria, type i
?parkinsonism with spasticity, x-linked
wilms tumor, somatic
ciliary dyskinesia, primary, 8
ciliary dyskinesia, primary, 2
ciliary dyskinesia, primary, 6
ciliary dyskinesia, primary, 5
trismus-pseudocamptodactyly syndrome
[blood group, diego]
ichthyosis, spastic quadriplegia, and mental retardation
[analgesia from kappa-opioid receptor agonist, female-specific]
5-fluorouracil toxicity
{viral infection, susceptibility to}
pancreatic and cerebellar agenesis
osteoporosis-pseudoglioma syndrome
?charcot-marie-tooth disease, axonal, type 2q
{intervertebral disc disease, susceptibility to}
{atherosclerosis, susceptibility to}
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.
deafness, autosomal recessive 83
deafness, autosomal recessive 89
autoinflammation, lipodystrophy, and dermatosis syndrome
postaxial polydactyly, type a2
{?breast cancer susceptibility}
corneal dystrophy, groenouw type i Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
peroxisome biogenesis disorder 4b
porokeratosis 4, disseminated superficial actinic
bloom syndrome OMIM mapping confirmed by DO. [SN].
immunodeficiency 28, mycobacteriosis
deafness, autosomal dominant 7
deafness, autosomal dominant 5
alopecia areata 2
alopecia areata 1
deafness, autosomal dominant 1
glaucoma 1d, primary open angle
[cholesterol level qtl 2]
deafness, autosomal dominant 9
parathyroid adenoma, somatic
senior-loken syndrome 3
senior-loken syndrome 6
senior-loken syndrome 7
senior-loken syndrome 4
senior-loken syndrome 5
hemihypertrophy Overgrowth of only one side of the body.
tarp syndrome
{hepatitis c virus, resistance to}
short stature, optic nerve atrophy, and pelger-huet anomaly
chromosome 5q12 deletion sydrome
{?membranous nephropathy, susceptibility to}
combined factor v and viii deficiency
{hypertension, pregnancy-induced}
[body mass index qtl13]
{stature qtl 20}
{systemic lupus erythematosus with nephritis, susceptibility to, 1}
nablus mask-like facial syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
pancreatic agenesis and congenital heart defects
arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
mismatch repair cancer syndrome
orthostatic hypotensive disorder of streeten
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.
scott syndrome Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
{46xy sex reversal 8, modifier of}
nemaline myopathy 9
{?sle susceptibility}
hypertrichosis terminalis, generalized, with or without gingival hyperplasia
candidiasis, familial, 1, autosomal dominant
cataract 27, nuclear progressive
carnitine deficiency, systemic primary
neurofibromatosis, type 2
neurofibromatosis, type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by cafƩ-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
laron dwarfism
{bacteremia, protection against}
?retinitis pigmentosa, x-linked recessive, 6
corneal clouding, autosomal recessive
danon disease OMIM mapping confirmed by DO. [SN].
auriculocondylar syndrome 2
auriculocondylar syndrome 3
auriculocondylar syndrome 1
{mycobacterium tuberculosis, susceptibility to infection by}
myopathy, centronuclear, 3
{nevus sebaceous, somatic}
myopathy, centronuclear, 4
igg2 deficiency, selective
{malignant mesothelioma, susceptibility to}
thyroid carcinoma, nonmedullary, 1
morbid obesity and spermatogenic failure
nijmegen breakage syndrome-like disorder
carboxypeptidase n deficiency
spinocerebellar ataxia 29, congenital nonprogressive
cowchock syndrome
ebd, localisata variant
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.
[urate oxidase deficiency]
{herpes simplex encephalitis, susceptibility to
{alzheimer disease 12}
somatostatin analog, resistance to
chanarin-dorfman syndrome A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
3q21q26 syndrome
hypercarotenemia and vitamin a deficiency, autosomal dominant
mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type )
charcot-marie-tooth disease, type 4h Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
charcot-marie-tooth disease, type 4j
diabetes mellitus, type ii
[blood group, ii]
charcot-marie-tooth disease, type 4a Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.
charcot-marie-tooth disease, type 4c Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis.
charcot-marie-tooth disease, type 4d Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life.
charcot-marie-tooth disease, type 4f Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy.
deafness, autosomal dominant 20/26
vesicoureteral reflux 6
?leukemia, acute myeloid
immunodeficiency 16, with or without neurologic abnormalities
immunodeficiency 21
vesicoureteral reflux 5
growth hormone deficiency with pituitary anomalies
chromosome 19p13.13 duplication syndrome
pepck deficiency, mitochondrial
mitochondrial complex iii deficiency, nuclear type 6
mitochondrial complex iii deficiency, nuclear type 5
mitochondrial complex iii deficiency, nuclear type 4
mitochondrial complex iii deficiency, nuclear type 3
mitochondrial complex iii deficiency, nuclear type 1
periodic fever, familial
chromosome 1q41-q42 deletion syndrome
ichthyosis, congenital, autosomal recessive 10
ichthyosis, congenital, autosomal recessive 11
alpha-fetoprotein deficiency
?microcephaly 12, primary, autosomal recessive
peroxisome biogenesis disorder 7a (zellweger)
{pancreatitis, idiopathic}
parkinson disease 20, early-onset
{leukemia, acute lymphoblastic, susceptibility to, 2}
{macroglobulinemia, waldenstrom, susceptibility to, 1}
pulmonary disease, chronic obstructive, severe early-onset
microcephaly 7, primary, autosomal recessive
[bone mineral density qtl 2]
{alzheimer disease 19, late onset, susceptibility to}
osteosarcoma A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.
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.
ovarian response to fsh stimulation
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5
hyperfibrinolysis, familial, due to increased release of plat
meesmann corneal dystrophy Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
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.
segawa syndrome, recessive
blau syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
diabetes mellitus, insulin-dependent, 20
{cardiac conduction defect, susceptibility to}
?sertoli-cell-only syndrome OMIM mapping confirmed by DO. [SN].
heinz body anemias, beta-
leukemia, chronic myeloid
{autism susceptibility 17}
silver spastic paraplegia syndrome
charcot-marie-tooth disease, axonal, with vocal cord paresis
fabry disease, cardiac variant
corneal fleck dystrophy
{hypercholesterolemia, familial, modifier of}
{schizophrenia, susceptibility to, 14}
heme oxygenase-1 deficiency
{speech-sound disorder}
telangiectasia, hereditary hemorrhagic, type 4
telangiectasia, hereditary hemorrhagic, type 5
telangiectasia, hereditary hemorrhagic, type 1
telangiectasia, hereditary hemorrhagic, type 2
glycogen storage disease vii OMIM mapping confirmed by DO. [SN].
focal facial dermal dysplasia 3, setleis type Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity
short-rib thoracic dysplasia 5 with or without polydactyly
hyperthyroidism, familial gestational
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type
myopathy, centronuclear
arthrogryposis, distal, type 1b
?peripheral neuropathy, myopathy, hoarseness, and hearing loss
deafness, autosomal dominant 65
retinitis pigmentosa 41
{strabismus, susceptibility to, 1}
retinitis pigmentosa 43
charcot-marie-tooth disease, axonal, type 2l
adiponectin deficiency
{malaria, severe, susceptibility to}
nonsmall cell lung cancer, response to tyrosine kinase inhibitor in
glutaric acidemia iia
glutaric acidemia iic
glutaric acidemia iib
pontocerebellar hypoplasia type 1a NT MGI.
{stature qtl 4}
2-methylbutyrylglycinuria
migraine with or without aura, susceptibility to
{diabetes mellitus, noninsulin-dependent, 5}
microcephaly and chorioretinopathy, autosomal recessive, 2
microcephaly and chorioretinopathy, autosomal recessive, 1
cold-induced sweating syndrome 1
cold-induced sweating syndrome 2
tumor predisposition syndrome
aortic aneurysm, familial abdominal, 4
beckwith-wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
?microcephaly 13, primary, autosomal recessive
leber congenital amaurosis 2
leber congenital amaurosis 3
leber congenital amaurosis 1
leber congenital amaurosis 6
leber congenital amaurosis 7
leber congenital amaurosis 4
leber congenital amaurosis 5
leber congenital amaurosis 8
leber congenital amaurosis 9
glycerol kinase deficiency
melanocytic nevus syndrome, congenital, somatic
pigmented paravenous chorioretinal atrophy Bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins.
{epilepsy, idiopathic generalized, susceptibility to, 6}
dyskeratosis congenita, x-linked
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).
{malaria, severe, resistance to}
{celiac disease, susceptibility to, 13}
lowe syndrome
usher syndrome, type iic, gpr98/pdzd7 digenic
ataxia, spastic, 4
?morning glory disc anomaly
ciliary dyskinesia, primary, 3, with or without situs inversus
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).
muscular dystrophy, limb-girdle, type ic
?neurodegeneration with optic atrophy, childhood onset
{chordoma, susceptibility to}
ataxia, spastic, 5, autosomal recessive
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
cardiomyopathy, dilated, 1j
{psoriasis susceptibility 8}
?spastic paraplegia 61, autosomal recessive
c9 deficiency
c5 deficiency OMIM mapping confirmed by DO. [SN].
spinal and bulbar muscular atrophy of kennedy
{mycobacerium tuberculosis, susceptibility, x-linked}
hypospadias 2, x-linked
spastic paraplegia 48, autosomal recessive
abdominal obesity-metabolic syndrome OMIM mapping confirmed by DO. [SN].
{gilles de la tourette syndrome, susceptibility to}
aicardi syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
myopathy, reducing body, x-linked, severe early-onset
czech dysplasia
peroxisome biogenesis disorder 6b
{tuberculosis, protection against}
{diabetes mellitus, insulin-dependent, 11}
?lysosomal acid phosphatase deficiency
adenocarcinoma, colonic, somatic
cartilage-hair hypoplasia OMIM mapping confirmed by DO. [SN].
myopia 20, autosomal dominant
achondrogenesis, type ia An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
meningioma, radiation-induced
cornea plana congenita, recessive
dyskeratosis, hereditary benign intraepithelial
?{parkinson disease 5, susceptibility to}
chromosome 10q26 deletion syndrome
[blood group, langereis system]
pityriasis rubra pilaris OMIM mapping confirmed by DO. [SN].
{?amyloidosis, secondary, susceptibility to}
?spastic paraplegia 57, autosomal recessive
migraine, familial hemiplegic
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.
{systemic lupus erythematosus with nephritis, susceptibility to, 3}
{systemic lupus erythematosus, association with}
{mycobacterium tuberculosis, susceptibility to}
brachydactyly, type a1
brachydactyly, type a2
mitochondrial complex 1 deficiency
leukemia, transient, of down syndrome
cholesteryl ester storage disease
{graves disease, susceptibility to, 1}
chromosome 5p13 duplication syndrome
spondyloepimetaphyseal dysplasia, aggrecan type
myeloperoxidase deficiency
{hepatitis b virus infection, susceptibility to}
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
oi type iv
combined oxidative phosphorylation deficiency 9
combined oxidative phosphorylation deficiency 8
aarskog-scott syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 1
[blood group, gerbich]
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 6
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 4
leigh syndrome due to mitochondrial complex 1 deficiency
epidermolytic hyperkeratosis OMIM mapping confirmed by DO. [SN].
muscular dystrophy, limb-girdle, type 1e
oculodentodigital dysplasia, autosomal recessive
muscular dystrophy, limb-girdle, type 1f
muscular dystrophy, limb-girdle, type 1a
muscular dystrophy, limb-girdle, type 1b
choroid plexus papilloma OMIM mapping confirmed by DO. [SN].
tumoral calcinosis, hyperphosphatemic
cardiomyopathy, dilated, 1ii
[bone mineral density qtl 14]
anemia, hemolytic, rh-null, regulator type
trimethylaminuria Increased concentration of trimethylamine in the urine.
optic atrophy plus syndrome
legg-calve-perthes disease An osteochondrosis that results_in death and fracture located_in hip joint.
aland island eye disease
hereditary persistence of fetal hemoglobin
hyperbiliverdinemia
cystinosis, atypical nephropathic
mirror movements 1
cortisone reductase deficiency 2
cortisone reductase deficiency 1
mirror movements 2
alzheimer disease 1, familial
alopecia, androgenetic, 1
alopecia, androgenetic, 2
alopecia, androgenetic, 3
[acetylation, slow]
{macular degeneration, age-related, 7}
neuropathy, hereditary sensory and autonomic, type v
psoriasis 2
autoimmune disease, multisystem, infantile-onset
cataract 4, multiple types
alpha-methylacetoacetic aciduria OMIM mapping confirmed by DO. [SN].
{scoliosis, idiopathic 3}
[rh-negative blood type]
gaucher disease, type ii
{diabetes, type 1, susceptibility to}
[skin/hair/eye pigmentation 1, blond/brown hair]
sensorineural deafness with mild renal dysfunction
mesomelic dysplasia, kantaputra type Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
fils syndrome
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
tietz albinism-deafness syndrome
cataract 31, multiple types
goiter, multinodular, 3
goiter, multinodular, 2
acrodysostosis 2, with or without hormone resistance
mental retardation, autosomal recessive 1
fatty liver, acute, of pregnancy
leukoencephalopathy with dystonia and motor neuropathy
{psoriasis susceptibility 5}
{leukemia, post-chemotherapy, susceptibility to}
psoriasis 14, pustular
hyperproinsulinemia, familial, with or without diabetes
left ventricular noncompaction 3, with or without dilated cardiomyopathy
[bone mineral density variation qtl]
{endometriosis, susceptibility to, 1}
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).
angelman syndrome OMIM mapping confirmed by DO. [SN].
pigment dispersion syndrome
plasminogen activator inhibitor-1 deficiency
{aids, delayed/rapid progression to}
keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
nicolaides-baraitser syndrome
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
peeling skin syndrome 1
peeling skin syndrome 2
cleidocranial dysplasia, forme fruste, dental anomalies only
piebaldism OMIM mapping confirmed by DO. [SN].
{psoriasis susceptibility 13}
palmoplantar keratoderma, epidermolytic
mesothelioma, somatic
{migraine with aura, susceptibility to, 7}
spondyloepiphyseal dysplasia, kimberley type
trehalase deficiency
?spondylocostal dysostosis 3, autosomal recessive
succinic semialdehyde dehydrogenase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
lipodystrophy, congenital generalized, type 2
lipodystrophy, congenital generalized, type 4
{autism susceptibility 15}
surfactant metabolism dysfunction, pulmonary, 1
mental retardation, autosomal dominant, 27
heterotopia, periventricular
?polyendocrine-polyneuropathy syndrome
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.
[kappa light chain deficiency]
dravet syndrome An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
[mean platelet volume qtl2]
efavirenz, poor metabolism of
?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.
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
hypogonadotropic hypogonadism 7 without anosmia
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
bardet-biedl syndrome 16
myasthenic syndrome, congenital, with tubular aggregates 2
mesomelia-synostoses syndrome Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
xanthinuria, type i
{accelerated tumor formation, susceptibility to}
chromosome 15q24 deletion syndrome
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
cpt deficiency, hepatic, type ia
craniosynostosis, adelaide type
[bone mineral density qtl 4]
{epilepsy, childhood absence, susceptibility to, 5}
[longevity 2]
cerebellar ataxia and hypogonadotropic hypogonadism
high density lipoprotein cholesterol level qtl14
6-mercaptopurine sensitivity
{stature qtl 6}
{macular degeneration, age-related, 13, susceptibility to}
lymphoma, mantle cell
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.
[malaria, resistance to]
carney complex variant
scaphocephaly and axenfeld-rieger anomaly
prion disease with protracted course
{epilepsy, idiopathic generalized, susceptibility to, 11}
exudative vitreoretinopathy 1
brittle cornea syndrome 1
brittle cornea syndrome 2
[high density lipoprotein cholesterol level qtl 11]
cataract 10, multiple types
achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
pigmented nodular adrenocortical disease, primary, 4
bornholm eye disease
[sarcosinemia]
{stroke, hemorrhagic}
{leukemia, chronic lymphocytic, susceptibility to, 1}
?hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
neuromuscular disease, congenital, with uniform type 1 fiber
{rapid progression to aids from hiv1 infection}
thanatophoric dysplasia, type ii
dystonia, early-onset atypical, with myoclonic features
hemolytic anemia due to triosephosphate isomerase deficiency
ichthyosis, x-linked
?renal-hepatic-pancreatic dysplasia 2
{alzheimer disease-15}
anterior segment anomalies with or without cataract
carcinoid tumor of lung
severe combined immunodeficiency, x-linked
amyotrophic lateral sclerosis and/or frontotemporal dementia A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
wolff-parkinson-white syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
[angiotensin i-converting enzyme, benign serum increase]
myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
neuropathy, congenital hypomyelinating
colon cancer, advanced, somatic
{diabetes mellitus, insulin-dependent}
spinal muscular atrophy, distal, congenital nonprogressive
vestibulopathy, familial
eosinophilia, familial
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.
{diabetes mellitus, insulin-dependent, 13}
?hairy ears, y-linked
emery-dreifuss muscular dystrophy 7, ad
candidiasis, familial, 2, autosomal recessive
epileptic encephalopathy, childhood-onset
peroxisome biogenesis disorder 8b
?slowed nerve conduction velocity, ad
peroxisome biogenesis disorder 6a (zellweger)
cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d
mucopolysaccharidosis vii A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
atrial standstill 2
desmoid disease, hereditary
{stature qtl 24}
deafness, digenic gjb2/gjb6
fg syndrome 4
myopia 15
myopia 14
myopia 17
myopia 16
myopia 11
myopia 10
myopia 13
myopia 12
myopia 19
myopia 18
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.
homocysteine, total plasma, elevated
{lung cancer, susceptibility to}
?combined oxidative phosphorylation deficiency 21
?combined oxidative phosphorylation deficiency 22
ichthyosis bullosa of siemens Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
parkinson disease, juvenile, type 2
[blood group, wright]
muscular dystrophy, congenital merosin-deficient
sucrase-isomaltase deficiency, congenital
[statins, attenuated cholesterol lowering by]
trichorhinophalangeal syndrome, type i An autosomal dominant disease that is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet.
x-inactivation, familial skewed
deafness, autosomal recessive 49
ciliary diskinesia, primary, 29
myotonia congenita, dominant
?retinal cone dystrophy-1
{pseudoxanthoma elasticum, modifier of severity of}
{pulmonary hypertension, neonatal, susceptibility to}
megaloblastic anemia-1, norwegian type
{gout susceptibility 4}
bradyopsia
macrocephaly/megalencephaly syndrome, autosomal recessive
clopidogrel, impaired responsiveness to
{pre-b-cell acute lymphoblastic leukemia}
{resistance to malaria due to g6pd deficiency}
leukemia/lymphoma, b-cell, 2
leukemia/lymphoma, b-cell, 3
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.
neurodegeneration with brain iron accululation 5
{bone size qtl}
progressive external ophthalmoplegia, autosomal recessive
retinal cone dystrophy 3b
pycnodysostosis An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
3-methylglutaconic aciduria, type iii
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
3-m syndrome 1
?multiple mitochondrial dysfunctions syndrome 3
nephrotic syndrome, type 5, with or without ocular abnormalities
3-m syndrome 2
{inflammatory bowel disease 18}
cardiomyopathy, dilated, 1gg
masp2 deficiency
cerebral palsy, spastic quadriplegic, 2
?complement factor b deficiency
renal carcinoma, chromophobe, somatic
hemolytic anemia due to hexokinase deficiency
lymphoma, b-cell non-hodgkin, somatic
{obesity, variation in}
{macular degeneration, age-related, 9}
hemosiderosis, systemic, due to aceruloplasminemia
{panic disorder, susceptibility to}
dystonia, dopa-responsive, with or without hyperphenylalaninemia
fumarase deficiency Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
chromosome 19p13.13 deletion syndrome
{obesity, susceptibility to, bmiq7}
atransferrinemia OMIM mapping confirmed by DO. [SN].
nemaline myopathy 2, autosomal recessive
?bleeding disorder, platelet-type, 19
?bleeding disorder, platelet-type, 18
{inflammatory bowel disease 27}
familial cold autoinflammatory syndrome 3
{dravet syndrome, modifier of}
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
{specific language impairment 5}
sialuria A lysosomal storage disease characterized by increased sialic acid in the urine.
myeloproliferative disorder A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
non-hodgkin lymphoma, somatic
mucopolysaccharidosis type iiic (sanfilippo c)
nystagmus 5, congenital, x-linked
branched-chain ketoacid dehydrogenase kinase deficiency
osteoglophonic dysplasia
amyloidosis, hereditary, transthyretin-related An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
{psoriasis susceptibility 11}
potocki-shaffer syndrome
complement factor i deficiency OMIM mapping confirmed by DO. [SN].
kondoh syndrome
cataract 38, autosomal recessive
{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.
iminoglycinuria, digenic
brachydactyly-syndactyly syndrome OMIM mapping confirmed by DO. [SN].
myopathy due to cpt ii deficiency
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.
?agammaglobulinemia 7, autosomal recessive
marinesco-sjogren syndrome
microphthalmia with coloboma 3
{ovarian cancer, somatic}
sweat chloride elevation without cf
hermansky-pudlak syndrome 7
orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
{autism susceptibility 13}
[blood group cromer]
immunodeficiency, common variable, 5
immunodeficiency, common variable, 4
immunodeficiency, common variable, 7
immunodeficiency, common variable, 6
immunodeficiency, common variable, 1
immunodeficiency, common variable, 3
immunodeficiency, common variable, 2
{asperger syndrome susceptibility, x-linked 2}
neu-laxova syndrome 2
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.
acromegaly, somatic
mental retardation, fra12a type
chromosome 17q23.1-q23.2 deletion syndrome
alpha-thalassemia myelodysplasia syndrome, somatic
iron-refractory iron deficiency anemia IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
arthrogryposis, distal, type 5d
{hirschsprung disease, susceptibility to, 4}
corneal dystrophy, avellino type
renal tubular acidosis with deafness
oligodontia-colorectal cancer syndrome
convulsions, familial infantile, with paroxysmal choreoathetosis
zinc deficiency, transient neonatal
lymphoma, somatic
{diabetes mellitus, insulin-dependent, x-linked}
nonaka myopathy A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
amyotrophy, hereditary neuralgic
rajab syndrome
von willebrand disease, platelet-type
pyruvate kinase deficiency
mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)
dysprothrombinemia
split-hand/foot malformation 6
split-hand/foot malformation 4
split-hand/foot malformation 5
myopathy, distal, tateyama type
hyperlipidemia, combined, 2
moyamoya disease 5
visceral myopathy
marshall syndrome
spastic paraplegia 45
{leber optic atrophy, susceptibility to}
{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)
sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay
{neuroblastoma, susceptibility to, 2}
[blood group, john-milton-hagen system]
myasthenic syndrome, congenital, associated with episodic apnea
{high density lipoprotein cholesterol level qtl 7}
jackson-weiss syndrome
lethal congenital contractural syndrome 2
lethal congenital contractural syndrome 3
alzheimer disease, type 3, with spastic paraparesis and apraxia
{esophageal cancer, alcohol-related, susceptibility to}
microphthalmia with cataract 2
microphthalmia with cataract 1
hyperalphalipoproteinemia An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
enolase deficiency
bannayan-riley-ruvalcaba syndrome OMIM mapping confirmed by DO. [SN].
3-methylglutaconic aciduria, type v
{dyslexia, susceptibility to, 2}
[blood group, p1pk system, p(2) phenotype]
factor v deficiency OMIM mapping confirmed by DO. [SN].
heart block, progressive, type ia
{alzheimer disease, pathogenesis, association with}
bardet-biedl syndrome 10
bardet-biedl syndrome 13
bardet-biedl syndrome 12
corneal dystrophy, lisch epithelial
bardet-biedl syndrome 17
{major depressive disorder and accelerated response to antidepressant drug treatment}
usher syndrome, type 2c
macular dystrophy, vitelliform, 5
macular dystrophy, vitelliform, 4
macular dystrophy, vitelliform, 3
usher syndrome, type 2d
emphysema-cirrhosis, due to aat deficiency
nystagmus 4, congenital, autosomal dominant
lipoprotein glomerulopathy
keratitis-ichthyosis-deafness syndrome
epidermolysis bullosa simplex, dowling-meara type Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
hypotrichosis 8
?seckel syndrome 6
melnick-needles syndrome Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems.
sturge-weber syndrome, somatic, mosaic
?seckel syndrome 8
niemann-pick disease, type b OMIM mapping confirmed by DO. [SN].
neutropenia, severe congenital 2, autosomal dominant
{prostate cancer aggressiveness qtl}
{hemolytic uremic syndrome, atypical, susceptibility to, 5}
{leanness, inherited}
{menarche, age at, qtl}
hypoglycemia of infancy, leucine-sensitive
epsilon-trimethyllysine hydroxylase deficiency
{myocardial infarcation, susceptibility to}
chromosome 19q13.11 deletion syndrome
{epilepsy, juvenile absence, susceptibility to, 1}
{systemic lupus erythematosus, susceptibility to, 14}
trichoepithelioma, multiple familial, 1
trichoepithelioma, multiple familial, 2
?microcephaly 10, primary, autosomal recessive
vertical talus, congenital
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
?cardiac conduction disease with or without dilated cardiomyopathy
vohwinkel syndrome with ichthyosis
shwachman-bodian-diamond syndrome
spinocerebellar ataxia, autosomal recessive with axonal neuropathy
?giant axonal neuropathy 2, autosomal dominant
cyanosis, transient neonatal
lujan-fryns syndrome The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
chromosome 14q11-q22 deletion syndrome
epilepsy, progressive myoclonic 1a (unverricht and lundborg)
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
left ventricular noncompaction 10
cataract 13 with adult i phenotype
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.
amyotrophic lateral sclerosis 10, with or without ftd
neuropathy, distal hereditary motor, type iib
neuropathy, distal hereditary motor, type iia
{psoriasis, protection against}
{blepharospasm, primary benign}
catshl syndrome
luteinizing hormone resistance, female
{myocardial infarction, decreased susceptibility to}
?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
weill-marchesani syndrome 2, dominant
vasculopathy, retinal, with cerebral leukodystrophy
lipoma, somatic
polyglucosan body disease, adult form
myopathy, actin, congenital, with excess of thin myofilaments
hypoprothrombinemia OMIM mapping confirmed by DO. [SN].
myoclonus, familial cortical
hypoaldosteronism, congenital, due to cmo ii deficiency
nevus, epidermal, somatic
{celiac disease, susceptibility to, 8}
?diarrhea 7
prostate cancer, somatic
hypoplastic or aplastic tibia with polydactyly
spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
chromosome 8p11 myeloproliferative syndrome
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked
cardiomyopathy, dilated, 1mm
epidermolysis bullosa of hands and feet
methylmalonyl-coa epimerase deficiency
ck syndrome
goiter, multinodular 1, with or without sertoli-leydig cell tumors
cataract 35, congenital nuclear
humoral hypercalcemia of malignancy
?mental retardation, autosomal recessive, 37
polycystic ovary syndrome 1
epilepsy, progressive myoclonic 1b
chromosome 3q29 microdeletion syndrome
von willebrand disease, type 1
acne inversa, familial, 2
specific granule deficiency
diabetes mellitus, insulin-resistant, with acanthosis nigricans
{inflammatory bowel disease 21}
[blood group, duffy system]
poretti-boltshauser syndrome
atrial fibrillation, familial, 1
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.
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type
mental retardation, autosomal dominant, 28
{menopause, natural, age at, qtl4}
surfactant metabolism dysfunction, pulmonary, 2
surfactant metabolism dysfunction, pulmonary, 3
surfactant metabolism dysfunction, pulmonary, 4
surfactant metabolism dysfunction, pulmonary, 5
striatonigral degeneration, infantile
{bacteremia, susceptibility to}
pilomatricoma, somatic
c8 deficiency, type i
?immunodeficiency 16
albinism, oculocutaneous, type iii
glaucoma 3, primary infantile, b
?immunodeficiency 13
{inflammatory bowel disease 11}
histiocytoma, angiomatoid fibrous, somatic
?male infertility due to acrosin deficiency
immunodeficiency 38
urofacial syndrome 1
urofacial syndrome 2
?webb-dattani syndrome
mental retardation, x-linked syndromic, christianson type
hypogonadotropic hypogonadism 21 with anosmia
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.
familial cold autoinflammatory syndrome 2
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant
[pentosuria] Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
chromosome 17p13.1 deletion syndrome
nemaline myopathy 10
{alkaline phosphatase, plasma level of, qtl 2}
ectodermal dysplasia 2, clouston type
{osteoarthritis susceptibility 4}
persistent hyperplastic primary vitreous, autosomal recessive
conotruncal heart malformations, variable
white sponge nevus 1
white sponge nevus 2
chromosome 5q14.3 deletion syndrome
hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
arterial calcification, generalized, of infancy, 1
arterial calcification, generalized, of infancy, 2
spastic paraplegia 31, autosomal dominant
nasopharyngeal carcinoma A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
{iga nephropathy, susceptibility to, 2}
macroglobulinemia, waldenstrom, somatic
{glioma susceptibility 2}
peroxisomal fatty acyl-coa reductase 1 disorder
spastic ataxia, charlevoix-saguenay type
adrenal cortical carcinoma
{autism susceptibility 11}
fechtner syndrome
{moyamoya disease 2, susceptibility to}
myhre syndrome
crigler-najjar syndrome, type ii
total anomalous pulmonary venous return
skin fragility-woolly hair syndrome
jacobsen syndrome Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
bainbridge-ropers syndrome
{prostate cancer, hereditary, 5}
myopathy due to myoadenylate deaminase deficiency
[hereditary persistence of alpha-fetoprotein] Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
{hypertension, essential, susceptibility to, 2}
{multiple self-healing squamous epithelioma, susceptiblity to}
spastic paralysis, infantile onset ascending
epilepsy, progressive myoclonic 2a (lafora)
auditory neuropathy, autosomal recessive, 1
{diabetes mellitus, type i, susceptibility to}
{leukemia, chronic lymphocytic susceptibility to, 5}
{hirschsprung disease, susceptibility to, 6}
leukoencephaly with vanishing white matter
{lipodystrophy, partial, acquired, susceptibility to}