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
Last Updated 2015 Apr 06
  1. 4552 genes
  2. 6175 phenotypes
  3. 6666 gene-phenotype associations

Data Access



  • 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
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
{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 lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
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
{malaria, susceptibility to}
{coronary artery spasm 2, susceptibility to
mody, type iii
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
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 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
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 renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
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
{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}
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.
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}
{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 psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
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 liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
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]
{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, Köbner 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
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}
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
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
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 An autonomic nervous system neoplasm that derives_from immature nerve cells.
{?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
{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 specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
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.
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 An autonomic nervous system neoplasm that derives_from immature nerve cells.
stickler syndrome, type iii
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
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
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 connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage.
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
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 renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
{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}
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
{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