ClinVar Gene-Phenotype Associations Dataset

Description SNP-phenotype associations curated by ClinVar users from various sources
Measurement genetic association by literature curation
Association gene-phenotype associations by crowd-sourced curation
Category disease or phenotype associations
Resource ClinVar
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  1. 2458 genes
  2. 3291 phenotypes
  3. 3638 gene-phenotype associations

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phenotype Gene Sets

3291 sets of genes associated with phenotypes from the curated ClinVar Gene-Phenotype Associations dataset.

Gene Set Description
Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
Hypothyroidism, central, and testicular enlargement
Trifunctional protein deficiency with myopathy and neuropathy
Endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus.
Bifunctional peroxisomal enzyme deficiency
Short stature, idiopathic, autosomal
X-linked ichthyosis with steryl-sulfatase deficiency
Parkinson disease 2
Fibrochondrogenesis
Phosphoglycerate dehydrogenase deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
Branchiootic syndrome 3
Bartter syndrome, type 3, with hypocalciuria
Preeclampsia/eclampsia 4
Preeclampsia/eclampsia 5
Dandy-Walker like malformation with atrioventricular septal defect
Myopia 21, autosomal dominant
Pachyonychia congenita, type 1 OMIM mapping confirmed by DO. [SN].
Parkinson disease 7
Impdh2 enzyme activity, variation in
Familial Mediterranean fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin.
Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
X-linked lissencephaly 2
Transient neonatal diabetes mellitus 1
Fanconi anemia, complementation group O
Achondrogenesis type 2 Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
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.
Galactosylceramide beta-galactosidase deficiency
Premature coronary artery disease
Myopia 24, autosomal dominant
Fanconi anemia, complementation group A
METHYLMALONIC ACIDURIA, mut(-) TYPE An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Isolated 17,20-lyase deficiency
Focal dermal hypoplasia OMIM mapping confirmed by DO. [SN].
Bethlem myopathy OMIM mapping confirmed by DO. [SN].
Endplate acetylcholinesterase deficiency
Jakob-Creutzfeldt disease OMIM mapping confirmed by DO. [SN].
Thrombocytosis, benign familial microcytic
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
Multiple synostoses syndrome 3
Sepiapterin reductase deficiency Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Polymicrogyria, bilateral frontoparietal
Sjögren-Larsson syndrome
Hennekam lymphangiectasia-lymphedema syndrome
Peroxisome biogenesis disorder 9B
X-linked mental retardation 58
UV-sensitive syndrome 3
Methionine adenosyltransferase deficiency, autosomal recessive
Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
Pseudohypoaldosteronism, type 2 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
Foveal hypoplasia and presenile cataract syndrome
Pretibial epidermolysis bullosa A type of blistering that affects the skin of the tibial region.
Congenital myotonia, autosomal dominant form
Hyperparathyroidism 1
Short rib-polydactyly syndrome, Majewski type
Char syndrome
Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Epilepsy, progressive myoclonic 6
Carbonic anhydrase va deficiency, hyperammonemia due to
Fragile X syndrome A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function.
Benign familial neonatal-infantile seizures
Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Shwachman syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Skin/hair/eye pigmentation, variation in, 1
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Coenzyme Q10 deficiency
Symmetrical dyschromatosis of extremities
Thyroid hormone metabolism, abnormal
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.
Arthrogryposis, mental retardation, and seizures
Melnick-Fraser syndrome
Vater association with macrocephaly and ventriculomegaly
Porencephaly 2
Deficiency of ribose-5-phosphate isomerase
Cone-rod dystrophy 19
Cone-rod dystrophy 18
Cone-rod dystrophy 16
Cone-rod dystrophy 11
Marfan's syndrome OMIM mapping confirmed by DO. [SN].
Kininogen deficiency, total
Melnick-Needles syndrome Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems.
Deafness, autosomal dominant 4
Deafness, autosomal dominant 5
Branchiootorenal syndrome 2
Blood group, john milton hagen system
Giant axonal neuropathy, autosomal dominant
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome
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.
Dyschromatosis universalis hereditaria 3
ISOVALERIC ACIDEMIA, TYPE I
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Lesch-Nyhan syndrome OMIM mapping confirmed by DO. [SN].
Lynch syndrome:Turcot syndrome
Pyknodysostosis
Thrombocytopenia, X-linked
Ocular coloboma, autosomal recessive
Irido-corneo-trabecular dysgenesis
Primary autosomal recessive microcephaly 8
6-pyruvoyl-tetrahydropterin synthase deficiency
Hereditary acrodermatitis enteropathica
Neurofibromatosis, familial spinal
Primary autosomal recessive microcephaly 2
Primary autosomal recessive microcephaly 3
Oculofaciocardiodental syndrome
Primary autosomal recessive microcephaly 1
Primary autosomal recessive microcephaly 6
Nephrogenic diabetes insipidus, X-linked
Alpha-B crystallinopathy
Myofibrillar myopathy, ZASP-related
Renal hamartomas nephroblastomatosis and fetal gigantism
Charcot-Marie-Tooth disease, X-linked dominant, 6
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Anonychia Aplasia of the nail.
Robinow Sorauf syndrome
Maple syrup urine disease type 2
Hydroxykynureninuria
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
17q2131 microdeletion 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.
Microphthalmia, isolated 4
Microphthalmia, isolated 7
Microphthalmia, isolated 6
Microcephaly 12, primary, autosomal recessive
Combined oxidative phosphorylation deficiency 9
Combined oxidative phosphorylation deficiency 8
Abetalipoproteinaemia
N-terminal acetyltransferase deficiency An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 7
Combined oxidative phosphorylation deficiency 6
Combined oxidative phosphorylation deficiency 5
Exudative vitreoretinopathy 5
Gaucher's disease, type 1
Congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
Patterned dystrophy of retinal pigment epithelium
Desbuquois syndrome Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.
46,XY sex reversal 9
46,XY sex reversal 8
Microcytic anemia OMIM mapping confirmed by DO. [SN].
Early myoclonic encephalopathy
Neutropenia, nonimmune chronic idiopathic, of adults
Congenital human immunodeficiency virus
Familial hypertrophic cardiomyopathy 9
Familial hypertrophic cardiomyopathy 7
Familial hypertrophic cardiomyopathy 6
Familial hypertrophic cardiomyopathy 4
Familial hypertrophic cardiomyopathy 3
Familial hypertrophic cardiomyopathy 2
Familial hypertrophic cardiomyopathy 1
Bronchiectasis with or without elevated sweat chloride 3
Agammaglobulinemia 2, autosomal recessive
Stargardt Disease 3
Myopathy, lactic acidosis, and sideroblastic anemia 1
Skin/hair/eye pigmentation, variation in, 8
Complement component 7 deficiency NT MGI.
Peroxisome biogenesis disorder 3A
Microtia, hearing impairment, and cleft palate
Mental retardation, X-linked 45
Macrocephaly/autism syndrome
Charcot-Marie-Tooth disease, type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
Nephrotic syndrome, type 9
Charcot-Marie-Tooth disease, type 4J
Hydatidiform mole OMIM mapping confirmed by DO. [SN].
Nephrotic syndrome, type 8
Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.
Macular dystrophy, vitelliform, 5
Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis.
Charcot-Marie-Tooth disease, type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life.
Creatine deficiency, X-linked
Charcot-Marie-Tooth disease, type 4G Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy.
Birbeck granule deficiency
Glucocorticoid deficiency 2
Czech dysplasia metatarsal type
Glucocorticoid deficiency 4
Normokalemic periodic paralysis, potassium-sensitive
Vitamin d hydroxylation-deficient rickets, type 1b
Neonatal insulin-dependent diabetes mellitus
Ataxia-telangiectasia-like disorder
Myopathy, centronuclear
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
Norum disease OMIM mapping confirmed by DO. [SN].
SCID due to ADA deficiency, delayed onset
Ichthyosis, spastic quadriplegia, and mental retardation
Mitochondrial diseases
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.
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
Salla disease
Worth disease
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Retinitis pigmentosa 20
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
Tumoral calcinosis, familial, hyperphosphatemic
Deafness, digenic, GJB2/GJB3
Superoxide dismutase, elevated extracellular
Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Cataract, posterior polar, 3
Neurohypophyseal diabetes insipidus OMIM mapping confirmed by DO. [SN].
Aspartylglycosaminuria OMIM mapping confirmed by DO. [SN].
Properdin deficiency, X-linked
Left ventricular noncompaction 10
Sacral agenesis with vertebral anomalies
Paroxysmal atrial fibrillation Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Deafness, autosomal recessive 101
Deafness, autosomal recessive 103
Hypermanganesemia with dystonia, polycythemia and cirrhosis
Epiphyseal dysplasia, multiple, 3, with myopathy
Febrile seizures, familial, 4
Combined cellular and humoral immune defects with granulomas
Osteopenic nonfracture syndrome
Hereditary liability to pressure palsies
sporadic abdominal aortic aneurysm
Barakat syndrome
Raine syndrome
Ménière's disease
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Spondyloperipheral dysplasia
Hyperammonemia, type III
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 10
Peroxisome biogenesis disorder 8B
Prostate cancer, hereditary, 13
Peroxisome biogenesis disorder 8A
PROPERDIN DEFICIENCY, TYPE II
Complement factor d deficiency
Telangiectasia, hereditary hemorrhagic, type 5
Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Autosomal recessive hypophosphatemic vitamin D refractory rickets
Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
DiGeorge sequence
Wolcott-Rallison dysplasia
MACULAR CORNEAL DYSTROPHY, TYPE II
Digitorenocerebral syndrome
Thrombophilia due to protein S deficiency, autosomal recessive
Autosomal recessive cutis laxa type 1B
X-linked mental retardation, syndromic, Claes-Jensen type
Familial restrictive cardiomyopathy 1
Auditory neuropathy, autosomal recessive, 1
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
Bullous ichthyosiform erythroderma
Gaze palsy, familial horizontal, with progressive scoliosis
Zonular pulverulent cataract 3
Sialidosis type I
Keratosis palmoplantaris striata 1
Protan defect
Hereditary cancer-predisposing syndrome:Lynch syndrome
Bare Lymphocyte Syndrome, Type II, Complementation Group D
Hypercholesterolemia, autosomal recessive
Combined d-2- and l-2-hydroxyglutaric aciduria
Leukodystrophy, hypomyelinating 3
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
Retinitis pigmentosa 18
Maple syrup urine disease, type 3
Methylmalonyl-CoA epimerase deficiency
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Choreoacanthocytosis
Pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity.
Sinoatrial node dysfunction and deafness
Retinitis pigmentosa 15
Complement component 8 deficiency type 2
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
Neuroblastoma 3
Amyotrophic lateral sclerosis 20 A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
Diarrhea 5, with tufting enteropathy, congenital
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
Ataxia-telangiectasia syndrome
Testosterone 17-beta-dehydrogenase deficiency
Acute neuronopathic Gaucher's disease
Alport syndrome, autosomal recessive
Cataract 15, multiple types
Interfrontal craniofaciosynostosis
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Immunodeficiency 8
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.
Hypomagnesemia 1, intestinal
Cataract, autosomal dominant, multiple types, with microcornea
Rasopathy
AMELOGENESIS IMPERFECTA, TYPE IH
Hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome (HIHA) is the most common form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
Primary erythromelalgia
X-linked mental retardation 63
Acyl-CoA dehydrogenase family, member 9, deficiency of
Currarino triad
BLOOD GROUP--WALDNER TYPE
Lynch syndrome II
Joubert syndrome 17
Cardiac conduction defect, nonspecific
Lethal multiple pterygium syndrome
Non-small cell lung cancer
Acroerythrokeratoderma
Renal hypodysplasia/aplasia 2
Hyperbiliverdinemia
MORM syndrome
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome
Familial hemiplegic migraine type 1
Vertical talus, congenital
Familial hemiplegic migraine type 3
Familial hemiplegic migraine type 2
Mental retardation, autosomal recessive 2
Mental retardation, autosomal recessive 7
Mental retardation, autosomal recessive 5
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
Craniodiaphyseal dysplasia, autosomal dominant
Charcot-Marie-Tooth disease, type IVF
Upshaw-Schulman syndrome
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Hereditary neutrophilia
Glaucoma 1, open angle, e
Hereditary cancer-predisposing syndrome
Nemaline myopathy 3, autosomal dominant or recessive
Mucopolysaccharidosis, MPS-I-H/S
Usher syndrome, type 1C
Homocystinuria, pyridoxine-responsive
Microphthalmia syndromic 6
Inclusion body myopathy 2 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
Atrial septal defect 7 with or without atrioventricular conduction defects
Torsades de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
Amelogenesis imperfecta, hypocalcification type
Glaucoma 1, open angle, O
Usher syndrome, type 1F
Hypogonadotropic hypogonadism 12 with or without anosmia
Glaucoma 1, open angle, F
Glaucoma 1, open angle, G
Martsolf syndrome
Usher syndrome, type 1D
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Erythrocytosis, familial, 4
Erythrocytosis, familial, 3
Erythrocytosis, familial, 2
epileptic encephalopathy, early infanitle, 1
Usher syndrome, type 1J
Hypercalciuric hypercalcemia
Cataract, nuclear total
Charcot-Marie-Tooth disease, dominant intermediate F
Charcot-Marie-Tooth disease, dominant intermediate E
Elliptocytosis 2
Charcot-Marie-Tooth disease, dominant intermediate C
Ectopia lentis, isolated autosomal recessive
Congenital generalized lipodystrophy type 1
Ceroid lipofuscinosis, neuronal, 13
Mental retardation with language impairment and autistic features
Glycogen storage disease type IXa1
Chromosome 2q32-q33 deletion syndrome
Warts, hypogammaglobulinemia, infections, and myelokathexis
Osteogenesis imperfecta type 15
Osteogenesis imperfecta type 12
Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Osteogenesis imperfecta type 10
Osteogenesis imperfecta type 11
Blepharophimosis-ptosis-intellectual disability syndrome
Borrone Di Rocco Crovato syndrome
Fibular hypoplasia and complex brachydactyly An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
Epidermodysplasia verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
Hurler syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Basal ganglia calcification, idiopathic, 4
Mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
Primary hypertrophic osteoarthropathy, autosomal recessive 2
X-linked severe combined immunodeficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
Autosomal recessive hypophosphatemic bone disease
Aortic aneurysm, familial thoracic 6
Xeroderma pigmentosum, group C
Deficiency of isobutyryl-CoA dehydrogenase
Hyperalphalipoproteinemia 2
Inflammatory bowel disease 25, autosomal recessive
Moyamoya disease 6 with achalasia
Familial X-linked hypophosphatemic vitamin D refractory rickets
Glycogen storage disease IV, congenital neuromuscular
Mental retardation, X-linked, syndromic, turner type
Leber congenital amaurosis 3
Angelman syndrome OMIM mapping confirmed by DO. [SN].
Leber congenital amaurosis 6
Facial paresis, hereditary congenital, 3
Leber congenital amaurosis 5
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Lig4 syndrome A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
Mitochondrial DNA depletion syndrome 4B, MNGIE type
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
X-linked mental retardation 3
Wilms tumor 1
Cardiomyopathy:Cardiomyopathy
Rubinstein-Taybi syndrome 2
Hypohidrotic X-linked ectodermal dysplasia
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
Mental retardation, autosomal dominant 30
Leukoencephalopathy, progressive, with ovarian failure
Progressive pseudorheumatoid dysplasia
Hypobetalipoproteinemia, normotriglyceridemic
Hajdu-Cheney syndrome OMIM mapping confirmed by DO. [SN].
Hyperferritinemia cataract syndrome
Myopathy, reducing body, X-linked, early-onset, severe
Iron accumulation in brain An abnormal build up of iron (Fe) in brain tissue.
Hereditary sideroblastic anemia
Temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
Mitochondrial DNA depletion syndrome 2
Hyperimmunoglobulin E syndrome OMIM mapping confirmed by DO. [SN].
Skin/hair/eye pigmentation, variation in, 4
Skin/hair/eye pigmentation, variation in, 5
Bannayan-Riley-Ruvalcaba syndrome OMIM mapping confirmed by DO. [SN].
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Pontocerebellar hypoplasia type 8 NT MGI.
Chudley-McCullough syndrome
Skin/hair/eye pigmentation, variation in, 9
Deafness, autosomal recessive 30
Poretti-boltshauser syndrome
Deafness, autosomal recessive 37
Deafness, autosomal recessive 35
Deafness, autosomal recessive 39
Charcot-Marie-Tooth disease, type 4B3
Bosch-boonstra-schaaf optic atrophy syndrome
Osteoglophonic dysplasia
Congenital glucose-galactose malabsorption
Mental retardation, anterior maxillary protrusion, and strabismus
Familial cardiomyopathy
Cerebral folate deficiency A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.
Infantile convulsions and paroxysmal choreoathetosis, familial
Periodontitis, aggressive, 1
Frank Ter Haar syndrome
Dilated cardiomyopathy 1LL
Short stature, optic nerve atrophy, and pelger-huet anomaly
Myopathy, centronuclear, 5
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
Cutis laxa, X-linked
Charcot-Marie-Tooth disease, type 4B1 Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.
Leukoencephalopathy, cystic, without megalencephaly
Phosphoserine aminotransferase deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Androgen resistance syndrome
Brain small vessel disease with hemorrhage
Hypoparathyroidism retardation dysmorphism syndrome
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Cryptorchidism, unilateral or bilateral
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Severe combined immunodeficiency due to ADA deficiency
Adrenocortical insufficiency
Glaucoma, primary open angle, juvenile-onset
Epiphyseal chondrodysplasia, miura type
Failure of tooth eruption, primary
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.
Duane syndrome type 2
Young Simpson syndrome
Frasier syndrome OMIM mapping confirmed by DO. [SN].
C-like syndrome
Paramyotonia congenita of von Eulenburg
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Congenital sensory neuropathy with selective loss of small myelinated fibers
Autoinflammation with infantile enterocolitis
Benign familial neonatal seizures 1
Meier-Gorlin syndrome An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
Benign familial neonatal seizures 2
Dystonia 24
Pili torti-deafness syndrome
Gorlin syndrome
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility
Marshall syndrome
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Myopathy, myosin storage
Usher syndrome, type 2C
Arylsulfatase A pseudodeficiency
Usher syndrome, type 2D
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Amyotrophic lateral sclerosis 18 A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
Porphyria cutanea tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
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.
Osteopetrosis, autosomal recessive 8
Gracile bone dysplasia Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Hereditary hemochromatosis
Succinyl-CoA acetoacetate 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.
Cognitive impairment with or without cerebellar ataxia
Thyrotropin-releasing hormone resistance, generalized
Carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
Bernard-Soulier syndrome, type A2, autosomal dominant
Duane-radial ray syndrome Le résumé pour cette maladie est en cours de production. Cependant, vous pouvez accéder à d'autres données sur cette maladie à partir du menu « Informations complémentaires » situé à droite sur cette page.
Frontonasal dysplasia
Bardet-Biedl syndrome 19
Persistent hyperinsulinemic hypoglycemia of infancy Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).
Kallikrein, decreased urinary activity of
Carnitine palmitoyltransferase I deficiency
Tibia, hypoplasia of, with polydactyly
Immunodeficiency 18, severe combined immunodeficiency variant
Myasthenic syndrome, congenital, with pre- and postsynaptic defects
Mitochondrial complex I deficiency
White sponge nevus of cannon A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
Asphyxiating thoracic dystrophy 4
22q133 deletion syndrome
Mental retardation, autosomal dominant 24
Spondyloenchondrodysplasia with immune dysregulation
Myopathy, actin, congenital, with cores
Hyperuricemic nephropathy, familial juvenile, 2
Hypercholesterolaemia
Sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
Familial cancer of breast
CHARGE association A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Hyperparathyroidism, neonatal severe
Mental retardation, autosomal dominant 28
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
X-Linked mental retardation 90
Mental retardation X-linked syndromic 5
Cutis laxa-corneal clouding-oligophrenia syndrome
Craniofacial anomalies and anterior segment dysgenesis syndrome
Aphakia, congenital primary OMIM mapping confirmed by DO. [SN].
Bardet-Biedl syndrome 14
HNSHA due to aldolase A deficiency
Epilepsy, progressive myoclonic 5
Epilepsy, progressive myoclonic 3
Peroxisomal fatty acyl-coa reductase 1 disorder
TNF receptor-associated periodic fever syndrome (TRAPS)
Familial benign pemphigus
Platelet-activating factor acetylhydrolase deficiency
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Metaphyseal chondrodysplasia, Jansen type
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Waardenburg syndrome type 2A
Spastic paraplegia 46, autosomal recessive
Lipodystrophy, congenital generalized, type 3
Spastic paraplegia 48, autosomal recessive
Steel syndrome
Chromosome 1q43-q44 deletion syndrome
Lipase deficiency combined
Galactosialidosis, late infantile
Beta-thalassemia, dominant inclusion body type
Situs inversus OMIM mapping confirmed by DO. [LS].
Rod monochromatism
Spondylometaphyseal dysplasia, Kozlowski type
Roberts-SC phocomelia syndrome
Odontoonychodermal dysplasia
Alpha trait thalassemia
RRM2B-related mitochondrial disease
Phytanic acid storage disease
Multiple Cutaneous and Mucosal Venous Malformations An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
Gm2-gangliosidosis, adult-onset
Craniosynostosis 4
Craniosynostosis 2
Craniosynostosis 3
Congenital contractural arachnodactyly
Craniosynostosis 1
Gaucher disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Autosomal dominant torsion dystonia 4
Bloom syndrome OMIM mapping confirmed by DO. [SN].
Neuropathy hereditary sensory and autonomic type 1
Beta thalassemia major Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.
Carcinoma of colon A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Hereditary hemorrhagic telangiectasia type 2
McLeod neuroacanthocytosis syndrome McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
Microcephaly with mental retardation and digital anomalies
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Parkinson disease 20, early-onset
Cerebrooculofacioskeletal syndrome 4
Cerebrooculofacioskeletal syndrome 2
Nicolaides-Baraitser syndrome
Leber congenital amaurosis 11
Hypogonadotropic hypogonadism 19 with or without anosmia
Oculomelic amyoplasia Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Cerebellar ataxia infantile with progressive external ophthalmoplegia
5-Oxoprolinase deficiency
ABO BLOOD GROUP SYSTEM, B(A) PHENOTYPE
Lymphedema, primary, with myelodysplasia
Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
Islet cell hyperplasia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Schwannomatosis 2
Asphyxiating thoracic dystrophy 5
Mental retardation, autosomal dominant 23
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
Asphyxiating thoracic dystrophy 2
Mental retardation, autosomal dominant 27
Glucocorticoid deficiency with achalasia
Mental retardation, autosomal dominant 29
Tetraamelia, autosomal recessive
Nager syndrome Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Common variable immunodeficiency 8, with autoimmunity
Angiotensin i-converting enzyme, benign serum increase
Fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
Chédiak-Higashi syndrome
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Early infantile epileptic encephalopathy 9
Early infantile epileptic encephalopathy 8
Growth retardation, developmental delay, coarse facies, and early death
Early infantile epileptic encephalopathy 2
Early infantile epileptic encephalopathy 7
Early infantile epileptic encephalopathy 5
Early infantile epileptic encephalopathy 4
Palmoplantar keratoderma, nonepidermolytic, focal
Persistent truncus arteriosus
Deafness, autosomal recessive 25
Deafness, autosomal recessive 24
Metachromatic leukodystrophy, adult type
Deafness, autosomal recessive 23
Deafness, autosomal recessive 22
Deafness, autosomal recessive 29
Deafness, autosomal recessive 28
Dyskeratosis congenita X-linked
Osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
Optic atrophy 7
Porokeratosis 8, disseminated superficial actinic type
Narcolepsy 7
Kindler's syndrome
Thyroid hormone resistance, generalized, autosomal recessive
Proopiomelanocortin deficiency
Carnevale syndrome
Spondyloepimetaphyseal dysplasia with multiple dislocations
Pituitary hormone deficiency, combined
Intrinsic factor deficiency
Severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
21-hydroxylase deficiency
Paragangliomas 2
Paragangliomas 3
Hyperphosphatasemia with bone disease
Paragangliomas 1
Kenny syndrome
Episodic pain syndrome, familial, 2
Osteogenesis imperfecta with normal sclerae, dominant form
Cromer blood group system
Hyperpigmentation, familial progressive, 2
Epilepsy, partial, with variable foci
Primary autosomal recessive microcephaly 7
Cerebral palsy, spastic quadriplegic, 6
Cerebral palsy, spastic quadriplegic, 5
Cerebral palsy, spastic quadriplegic, 3
Chondrodysplasia with joint dislocations, GPAPP type
Cerebral palsy, spastic quadriplegic, 1
Congenital absence of salivary gland
Primary autosomal recessive microcephaly 5
Pigmented nodular adrenocortical disease, primary, 1
Pigmented nodular adrenocortical disease, primary, 2
Pigmented nodular adrenocortical disease, primary, 3
Distal hereditary motor neuronopathy 2D
Nephronophthisis 14
Charcot-Marie-Tooth disease, type 2A2
Nephronophthisis 16
Nephronophthisis 11
Inflammatory skin and bowel disease, neonatal, 2
HEMOPHILIA B(M)
Glutaryl-CoA oxidase deficiency
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.
Rienhoff syndrome
Nephronophthisis 18
Usher syndrome, type 2A
Forebrain defects
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Familial aortopathy
Periventricular nodular heterotopia 6
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Corticosterone methyloxidase type 1 deficiency
Megalencephalic leukoencephalopathy with subcortical cysts 2a
Spastic paraplegia 4, autosomal dominant
Symphalangism, proximal, 1b
Atelosteogenesis type 3 Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Atelosteogenesis type 2 Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Atelosteogenesis type 1 Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Renal-hepatic-pancreatic dysplasia 2
Weaver syndrome OMIM mapping confirmed by DO. [LS].
Osteogenesis imperfecta, recessive perinatal lethal
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.
Idiopathic hypercalcemia of infancy
Thiopurine methyltransferase deficiency
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Lynch syndrome I
Multicentric osteolysis nephropathy
Retinitis pigmentosa 28
Basal ganglia disease, biotin-responsive
Geroderma osteodysplastica Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Coronary artery disease, autosomal dominant 2
Microphthalmia, isolated 8
Sarcoidosis, early-onset
Carnitine palmitoyltransferase II deficiency, infantile
Merosin deficient congenital muscular dystrophy
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Deafness, autosomal recessive 59
Skin/hair/eye pigmentation, variation in, 10
Skin/hair/eye pigmentation, variation in, 11
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.
Xerocytosis
Methylmalonic aciduria cblA type
Xeroderma pigmentosum, type 1
Anemia sideroblastic and spinocerebellar ataxia OMIM mapping confirmed by DO. [SN].
Lactate dehydrogenase b deficiency
Facial dysmorphism, immunodeficiency, livedo, and short stature
Syndromic X-linked mental retardation 16
Ectodermal dysplasia/short stature syndrome
Brachydactyly type A1
Citrullinemia type I
Microphthalmia, isolated 3
Siderius X-linked mental retardation syndrome
Microphthalmia, isolated 2
Premature ovarian failure 7
Combined oxidative phosphorylation deficiency 18
Combined oxidative phosphorylation deficiency 17
Combined oxidative phosphorylation deficiency 16
Left-right axis malformations
Combined oxidative phosphorylation deficiency 14
Combined oxidative phosphorylation deficiency 13
Combined oxidative phosphorylation deficiency 12
Combined oxidative phosphorylation deficiency 11
Combined oxidative phosphorylation deficiency 10
Lymphoproliferative syndrome, ebv-associated, autosomal, 1
Nystagmus 6, congenital, X-linked
Diaphanospondylodysostosis
Minicore myopathy with external ophthalmoplegia
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.
Kohlschutter's syndrome
X-linked mental retardation with marfanoid habitus syndrome
Phosphate transport defect
Primary hyperoxaluria, type II
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Cerebro-oculo-facio-skeletal syndrome Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Fucosidosis OMIM mapping confirmed by DO. [SN].
Epileptic encephalopathy, early infantile, 1
Vitamin D-dependent rickets, type 1
Heterotaxy, visceral, 4, autosomal
Digital arthropathy-brachydactyly, familial
Epileptic encephalopathy, early infantile, 23
Plasminogen deficiency, type I
Hypotrichosis-lymphedema-telangiectasia syndrome
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Primary dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.
Peroxisome biogenesis disorder 7B
LEOPARD syndrome OMIM mapping confirmed by DO. [SN].
Peroxisome biogenesis disorder 7A
Ceroid lipofuscinosis neuronal 7
Hermansky-Pudlak syndrome 9
Osteopetrosis with renal tubular acidosis Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hypogonadotropic hypogonadism 17 with or without anosmia
Cystinosis, atypical nephropathic
Hermansky-Pudlak syndrome 3
Molybdenum cofactor deficiency, complementation group C
Molybdenum cofactor deficiency, complementation group B
Molybdenum cofactor deficiency, complementation group A
Parkinson disease 17
Parkinson disease 11
Myoglobinuria, acute recurrent, autosomal recessive
Congenital stationary night blindness, autosomal dominant 3
Parkinson disease 18
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.
Treacher collins syndrome 1
Wiskott-Aldrich syndrome OMIM mapping confirmed by DO. [SN].
Episodic pain syndrome, familial, 3
Hepatic venoocclusive disease with immunodeficiency
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss
Biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Hyper-IgE syndrome
Paragangliomas 4
Afibrinogenemia, congenital
Paragangliomas 5
Keratoconus 1
Lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Autosomal dominant isolated somatotropin deficiency
Triglyceride storage disease with ichthyosis
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.
Macrocephaly, macrosomia, facial dysmorphism syndrome
MEN2 phenotype: Unclassified
Metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
Rett's disorder 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.
Diabetes mellitus, permanent neonatal, with neurologic features
May-Hegglin anomaly
Cowden disease 5
Cowden disease 6
Bartter syndrome antenatal type 2
Hypohidrotic ectodermal dysplasia with immune deficiency
Bartter syndrome antenatal type 1
Protoporphyria, erythropoietic, X-linked
Deficiency of phosphoserine phosphatase
Isolated growth hormone deficiency type 1B
Amyotrophic lateral sclerosis type 11 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
Amyotrophic lateral sclerosis type 10 A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
Deafness, congenital heart defects, and posterior embryotoxon
Amyotrophic lateral sclerosis type 12 A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
Glycogen storage disease type II, infantile
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
Cutaneous amyloidosis The presence of amyloid deposition in the superficial dermis.
Short stature, idiopathic, X-linked
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Infertility associated with multi-tailed spermatozoa and excessive DNA
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete OMIM mapping confirmed by DO. [SN].
Gamstorp-Wohlfart syndrome
Visceral myopathy
Neutral 1 amino acid transport defect
Turcot syndrome
Walker-Warburg congenital muscular dystrophy
Orthostatic intolerance
Joubert syndrome 3
Joubert syndrome 1
Fibrosis of extraocular muscles, congenital, 3b
Joubert syndrome 7
Arrhythmogenic right ventricular dysplasia, familial, 13
Iris coloboma with ptosis, hypertelorism, and mental retardation
Long QT syndrome 1
Long QT syndrome 2
Long QT syndrome 3
Sick sinus syndrome 2, autosomal dominant
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Hyaline fibromatosis syndrome
Rigidity and multifocal seizure syndrome, lethal neonatal
Febrile seizures, familial, 11
Thrombophilia, histidine-rich glycoprotein-related
Cutis laxa with osteodystrophy
Osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14
Alopecia, neurologic defects, and endocrinopathy syndrome
Deficiency of butyryl-CoA dehydrogenase
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Deafness, X-linked 5
Deafness, X-linked 4
Deafness, X-linked 2
Unclassifed
Charcot-Marie-Tooth disease, type 2A1
Charcot-Marie-Tooth disease, type IF
Charcot-Marie-Tooth disease, type IE
Charcot-Marie-Tooth disease, type ID
Charcot-Marie-Tooth disease, type IC
Charcot-Marie-Tooth disease, type IB
Charcot-Marie-Tooth disease, type IA
Hypomagnesemia 6, renal
Pseudoxanthoma elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Odontohypophosphatasia
Weill-Marchesani-like syndrome
Alzheimer's disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
Netherton syndrome OMIM mapping confirmed by DO. [SN].
Spinocerebellar ataxia 28
Nephronophthisis 13
Craniofrontonasal dysplasia OMIM mapping confirmed by DO. [SN].
Anhidrotic ectodermal dysplasia with immune deficiency
Limb-girdle muscular dystrophy, type 2S
Bartter syndrome, type 4b
Nephronophthisis 12
North american indian childhood cirrhosis
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.
Mullerian aplasia and hyperandrogenism
Spinocerebellar ataxia autosomal recessive 1
Premature ovarian failure 4
Premature ovarian failure 5
Premature ovarian failure 6
Limb-girdle muscular dystrophy, type 2L
Premature ovarian failure 8
Limb-girdle muscular dystrophy, type 2B
Limb-girdle muscular dystrophy, type 2A
Limb-girdle muscular dystrophy, type 2F
Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2D
Schindler disease, type 1 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.
X-linked infantile nystagmus
Schindler disease, type 3 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
Absent corpus callosum cataract immunodeficiency
Hodgkin lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Multiple endocrine neoplasia, type 2b An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Ventricular septal defect 3
Ventricular septal defect 1
Epilepsy, progressive myoclonic 4, with or without renal failure
Cystinosis
Knuckle pads, deafness AND leukonychia syndrome
Short-sleeper
Familial benign hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Niemann-pick disease, intermediate, protracted neurovisceral
Parkinson disease 6, autosomal recessive early-onset
Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
Bronchiectasis with or without elevated sweat chloride 2
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Atrial fibrillation, familial, 6
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Waardenburg syndrome type 4B
Heart block, nonprogressive
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Pseudo von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
Ceroid lipofuscinosis neuronal 4B autosomal dominant
Usher syndrome, type 1
Deficiency of hyaluronoglucosaminidase
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.
Hyperphenylalaninemia, bh4-deficient, d
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
Acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
Left ventricular noncompaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Sandhoff disease, juvenile type
Spermatogenic failure 3
Amyotrophic lateral sclerosis type 1 The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
Amyotrophic lateral sclerosis type 2 A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
Osteoporosis with pseudoglioma
Amyotrophic lateral sclerosis type 4 A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Amyotrophic lateral sclerosis type 6 A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
Hereditary fructosuria
Sulfite oxidase deficiency, isolated
Familial visceral amyloidosis, Ostertag type
Generalized arterial calcification of infancy 2
Richieri Costa Pereira syndrome
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Darier disease, segmental
Hereditary neuralgic amyotrophy
Autoimmune lymphoproliferative syndrome, type 2
Bartter syndrome type 4 Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.
Bartter syndrome type 3 Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Ciliary dyskinesia, primary, 9
Ciliary dyskinesia, primary, 3
Thrombocytopenia 4
Ciliary dyskinesia, primary, 7
Ciliary dyskinesia, primary, 6
Ciliary dyskinesia, primary, 5
Sclerosteosis 2
METHYLMALONIC ACIDURIA, mut(0) TYPE
Myasthenic syndrome, congenital, fast-channel
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Naxos disease
Dementia familial British
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Severe autosomal recessive muscular dystrophy of childhood - North African type
Spastic paraplegia 18
Macular corneal dystrophy Type I
Spastic paraplegia 15
Spondyloepiphyseal dysplasia, kimberley type
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.
Plasminogen activator inhibitor type 1 deficiency
Spastic paraplegia 13
Spastic paraplegia 12
Wilson-Turner X-linked mental retardation syndrome
Multicentric osteolysis, nodulosis and arthropathy
Deafness, without vestibular involvement, autosomal dominant
Stapes ankylosis with broad thumb and toes
Cataract, autosomal recessive congenital 2
Amyotrophic lateral sclerosis 1, autosomal recessive
Costello syndrome OMIM mapping confirmed by DO. [SN].
Corneal dystrophy and perceptive deafness
Chondrodysplasia punctata 2 X-linked dominant
Retinitis pigmentosa 7
Cataract, zonular
Pseudohypoaldosteronism type 2B
Bietti crystalline corneoretinal dystrophy OMIM mapping confirmed by DO. [SN].
Chromophobe renal cell carcinoma A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Combined oxidative phosphorylation deficiency 22
Combined oxidative phosphorylation deficiency 20
Combined oxidative phosphorylation deficiency 21
Ochoa syndrome An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Monoamine oxidase A deficiency Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
Factor V deficiency OMIM mapping confirmed by DO. [SN].
X-linked mental retardation 18
Orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome
Debrisoquine, poor metabolism of
Fetal hemoglobin quantitative trait locus 1
Vitamin D-dependent rickets, type 2
Fetal hemoglobin quantitative trait locus 5
Mental retardation, X-linked, syndromic, raymond type
Cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Familial porencephaly
Bruck syndrome 1
Bruck syndrome 2
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Schizophrenia 15
Thyroid hormone resistance, generalized, autosomal dominant
Epilepsy, nocturnal frontal lobe, 5
Achalasia-alacrima syndrome
46,XY sex reversal, type 3
Hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Cryptophthalmos syndrome
Adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Diarrhea 3, secretory sodium, congenital, syndromic
Severe congenital neutropenia 3, autosomal recessive
Familial hypertrophic cardiomyopathy 17
Familial hypertrophic cardiomyopathy 15
Familial hypertrophic cardiomyopathy 14
Familial hypertrophic cardiomyopathy 13
Familial hypertrophic cardiomyopathy 12
Familial hypertrophic cardiomyopathy 10
Hypocalcemia, autosomal dominant 2
Hypocalcemia, autosomal dominant 1
Hydrocephalus, nonsyndromic, autosomal recessive 2
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.
Charcot-Marie-Tooth disease, axonal, type 2s
Charcot-Marie-Tooth disease, axonal, type 2r
Charcot-Marie-Tooth disease, axonal, type 2q
Hypocalcemia, autosomal dominant
Nijmegen breakage syndrome-like disorder
Hypocalciuric hypercalcemia, familial, type 1
Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Infantile myofibromatosis 1
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Short-rib thoracic dysplasia 11 with or without polydactyly
Brugada syndrome 6
Brugada syndrome 5
Brugada syndrome 4
Brugada syndrome 2
Brugada syndrome 1
Ovarian hyperstimulation syndrome OMIM mapping confirmed by DO. [SN].
Otofaciocervical syndrome 2
Kaufman oculocerebrofacial syndrome
Stickler syndrome, type 5
Stickler syndrome, type 4
Glutamate formiminotransferase deficiency
Stickler syndrome, type 2
Hypoglycemia with deficiency of glycogen synthetase in the liver
Diamond-Blackfan anemia 8
Renal tubular acidosis, distal, autosomal dominant
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.
Diamond-Blackfan anemia 3
Renal tubular acidosis, distal, autosomal recessive
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 7
Cone-rod dystrophy 3
Noonan syndrome and Noonan-related syndrome
Arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
Branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
Karak syndrome
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.
Sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
Retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
Long QT syndrome 12
Long QT syndrome 13
Long QT syndrome 10
Cone-rod dystrophy 6
Follicle-stimulating hormone deficiency, isolated
Hermansky Pudlak syndrome 2
familial hyperinsulinism
X-linked mental retardation, syndromic 14
Juvenile myelomonocytic leukemia OMIM mapping confirmed by DO. [SN].
alpha Thalassemia Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
Spastic paraplegia 54, autosomal recessive
Tarsal carpal coalition syndrome An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Fanconi anemia, complementation group Q
Neurofibromatosis, type 2
Lattice corneal dystrophy Type I Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
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).
Neurofibromatosis, type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Becker muscular dystrophy OMIM mapping confirmed by DO. [SN].
Parkinson disease 1
Fanconi anemia, complementation group M
Fanconi anemia, complementation group N
Parkinson disease 5
Jankovic Rivera syndrome
Parkinson disease 9
Fanconi anemia, complementation group E
Fanconi anemia, complementation group F
Fanconi anemia, complementation group G
Arrhythmogenic right ventricular cardiomyopathy, type 9
Nakajo syndrome
Arrhythmogenic right ventricular cardiomyopathy, type 8
Ganglioside sialidase deficiency
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.
Lynch syndrome:Hereditary cancer-predisposing syndrome
Juvenile neuronal ceroid lipofuscinosis
Ataxia, spastic, 4, autosomal recessive
Leiner disease
C1q deficiency
Hemochromatosis type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Hemochromatosis type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Myopathy, lactic acidosis, and sideroblastic anemia 2
Morbid obesity
Chromosome Xq28 deletion syndrome
Fanconi-Bickel syndrome
Surfactant metabolism dysfunction, pulmonary, 5
Immunodeficiency with hyper IgM type 5
Diabetes mellitus
short QT syndrome An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
Immunodeficiency with hyper IgM type 1
Microcephaly 10, primary, autosomal recessive
Immunodeficiency with hyper IgM type 3
Immunodeficiency with hyper IgM type 2
Interferon gamma receptor deficiency
Idiopathic fibrosing alveolitis, chronic form
Platelet glycoprotein IV deficiency
Smith-Lemli-Opitz syndrome OMIM mapping confirmed by DO. [LS].
Epileptic encephalopathy, childhood-onset
Arrhythmogenic right ventricular cardiomyopathy, type 11
Arrhythmogenic right ventricular cardiomyopathy, type 10
Von Hippel-Lindau syndrome OMIM mapping confirmed by DO. [LS].
Arrhythmogenic right ventricular cardiomyopathy, type 12
Macular degeneration, early-onset
Polycystic kidney disease 2
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 16
DFNA 2 Nonsyndromic Hearing Loss
N-acetylaspartate deficiency
Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.
Usher syndrome, type 1B
Microphthalmia syndromic 5
Dowling-degos disease 4
Congenital dyserythropoietic anemia, type I Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Heterotopia, periventricular, autosomal recessive
Usher syndrome, type 1G
Tyrosinemia type 2
Spastic paraplegia 5A
Metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
Microphthalmia syndromic 9
Atrial septal defect 2
Multiple fibrofolliculomas
Transposition of great arteries cardiovascular structural anomaly in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle
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.
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Ehlers-Danlos syndrome progeroid type 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.
Neuropathy, hereditary motor and sensory, Okinawa type
Cardiomyopathy, restrictive
Rhegmatogenous retinal detachment, autosomal dominant
3-Methylglutaconic aciduria type 2 A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
Larsen syndrome, dominant type
Triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Meconium ileus Obstruction of the intestine due to abnormally thick meconium.
Neurofibrosarcoma
Gaucher disease, atypical, due to saposin C deficiency
Harderoporphyria
Dominant hereditary optic atrophy
Spermatogenic failure 9
Congenital adrenal hypoplasia, X-linked
Thrombocytopenia 2
Platelet-type bleeding disorder 11
Hyperimmunoglobulin D with periodic fever
Platelet-type bleeding disorder 15
Platelet-type bleeding disorder 17
Platelet-type bleeding disorder 16
Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Cone dystrophy 4
Cone dystrophy 3
Primary open angle glaucoma OMIM mapping confirmed by DO. [SN].
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Persistent hyperplastic primary vitreous, autosomal recessive
Cardiac valvular dysplasia, X-linked
Temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Birk Barel mental retardation dysmorphism syndrome OMIM mapping confirmed by DO. [SN].
Focal segmental glomerulosclerosis 8
Alport syndrome, X-linked recessive
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 3
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.
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 6
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 5
Retinitis pigmentosa 42
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Megaloblastic anemia due to inborn errors of metabolism
Hyperphosphatasia with mental retardation syndrome 2
Hyperphosphatasia with mental retardation syndrome 3
Hyperphosphatasia with mental retardation syndrome 1
Hyperphosphatasia with mental retardation syndrome 4
Hyperphosphatasia with mental retardation syndrome 5
Microcephaly, short stature, and impaired glucose metabolism
Hereditary factor II deficiency disease
Mitochondrial complex III deficiency
Heterotopia
Factor xiii, a subunit, deficiency of
Adenomatous polyposis coli:Gardner syndrome
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Spastic paraplegia 11, autosomal recessive
Mitochondrial complex III deficiency, nuclear type 5
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Mitochondrial complex III deficiency, nuclear type 2
Pulmonary hypertension, primary, fenfluramine-associated
Jervell and Lange-Nielsen syndrome 2
Glycogen storage disease 0, muscle
Lethal congenital contracture syndrome 5
Laron-type isolated somatotropin defect
Insulin-like growth factor 1 resistance to
Hypertrichotic osteochondrodysplasia
3-methylcrotonyl CoA carboxylase 2 deficiency
Sensorineural deafness with hypertrophic cardiomyopathy
Progressive intrahepatic cholestasis
Congenital secretory diarrhea, chloride type
Brachydactyly type A2
Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Hyperinsulinemic hypoglycemia familial 3
Hyperalphalipoproteinemia An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
Leprechaunism syndrome
Beta-D-mannosidosis
Fanconi anemia, complementation group I
Spinal muscular atrophy, type II
Simpson-Golabi-Behmel syndrome An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
Metachromatic leukodystrophy, mild
Subacute neuronopathic Gaucher's disease
Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
Radin blood group
Spermatogenic failure 14
Generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Spermatogenic failure 12
Spermatogenic failure 13
Spermatogenic failure 11
Spastic paraplegia 57, autosomal recessive
Osteochondritis dissecans An ischemic bone disease that results_in necrosis located_in epiphysis.
Hemolytic anemia due to hexokinase deficiency
Febrile seizures, familial, 3b
XFE progeroid syndrome
Macrocephaly, alopecia, cutis laxa, and scoliosis
Spinocerebellar ataxia, autosomal recessive 7
Primary ciliary dyskinesia 24
Hypomyelination and Congenital Cataract
Primary ciliary dyskinesia 23
Fibrosis of extraocular muscles, congenital, 2
Reis-Bucklers' corneal dystrophy
Fibrosis of extraocular muscles, congenital, 1
Meckel syndrome type 2
Meckel syndrome type 3
Cone-rod dystrophy 9
Meckel syndrome type 1
Meckel syndrome type 4
Meckel syndrome type 5
Leigh syndrome due to mitochondrial complex I deficiency
Trichorhinophalangeal dysplasia type I
Glanzmann's thrombasthenia OMIM mapping confirmed by DO. [LS].
Cone-rod dystrophy 7
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Multiple sulfatase deficiency
Lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
Corticosteroid-binding globulin deficiency
Synpolydactyly 1
Dysequilibrium syndrome
Combined oxidative phosphorylation deficiency 15
Corticosterone methyloxidase type 2 deficiency
Hereditary diffuse gastric cancer
Hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
Hypoproteinemia, hypercatabolic
Osteogenesis imperfecta type 5 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).
Haemorrhagic telangiectasia 2
Deafness, autosomal recessive 102
Atypical hemolytic-uremic syndrome 1
Atypical hemolytic-uremic syndrome 3
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.
Achromatopsia 4
Achromatopsia 5
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Achromatopsia 3
IL21R immunodeficiency
Keratitis, autosomal dominant
Charcot-Marie-Tooth disease, X-linked recessive, type 4
Charcot-Marie-Tooth disease, X-linked recessive, type 5
GRACILE syndrome GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Frontotemporal dementia, ubiquitin-positive
Nonaka myopathy A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
Testicular anomalies with or without congenital heart disease
X-linked lymphoproliferative syndrome 1
Lafora disease OMIM mapping confirmed by DO. [SN].
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Kowarski syndrome
Lissencephaly 1
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Lissencephaly 3
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.
Lissencephaly 5
Lissencephaly 4
Meckel-Gruber syndrome An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis.
NEUROPATHY, HEREDITARY SENSORY, TYPE IE
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
Paroxysmal nocturnal hemoglobinuria NT MGI.
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
Complement component 9 deficiency NT MGI.
Niemann-Pick disease, type B OMIM mapping confirmed by DO. [SN].
Niemann-Pick disease, type A OMIM mapping confirmed by DO. [SN].
X-linked lymphoproliferative syndrome 2
Glycogen storage disease type X
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.
Tangier disease OMIM mapping confirmed by DO. [LS].
Coffin-Lowry syndrome OMIM mapping confirmed by DO. [SN].
Alpha-fetoprotein, hereditary persistence of
Holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Auriculocondylar syndrome 2
Auriculocondylar syndrome 3
Auriculocondylar syndrome 1
Heterotaxy, visceral, 2, autosomal
Acute intermittent porphyria
2,4-Dienoyl-CoA reductase deficiency
Neural tube defect
Cone-rod dystrophy, X-linked 1
Ehlers-Danlos syndrome, hydroxylysine-deficient
Pierson syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
Pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Spastic paraplegia 72, autosomal recessive
Paroxysmal familial ventricular fibrillation
Familial hypercholesterolemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Loeys-Dietz syndrome 1
Diastrophic dysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Endocrine-cerebroosteodysplasia
X-linked recessive hypophosphatemic rickets
Citrullinemia type II Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Tricho-dento-osseous syndrome
Blood group, junior system
Thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Surfactant metabolism dysfunction, pulmonary, 1
Surfactant metabolism dysfunction, pulmonary, 2
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.
Surfactant metabolism dysfunction, pulmonary, 4
Nephrotic syndrome, type 10
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Cardiomyopathy dilated with woolly hair and keratoderma
Hidradenitis suppurativa, familial
Arthrogryposis, renal dysfunction, and cholestasis 2
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL
Perrault syndrome 5
Mental retardation, X-linked 19
Perrault syndrome 2
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.
Capillary malformation without arteriovenous malformation
Pelger-Huët anomaly
Distal spinal muscular atrophy, X-linked 3
Werner syndrome OMIM mapping confirmed by DO. [LS].
Cataract and cardiomyopathy
Fanconi anemia, complementation group C
Cardiomyopathy, dilated, 2b
Aarskog syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
Pseudoneonatal adrenoleukodystrophy
Dementia, familial Danish
Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Inflammatory skin and bowel disease, neonatal
Enamel-renal syndrome
Alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Parkinsonism with spasticity, X-linked
Prostate cancer, hereditary, 12
Joubert syndrome 21
Joubert syndrome 20
Bile acid malabsorption, primary
Joubert syndrome 22
Multiple synostoses syndrome 2
Diaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Popliteal pterygium syndrome lethal type
Keutel syndrome
Deficiency of glycerate kinase
Progressive familial intrahepatic cholestasis 3
Progressive familial intrahepatic cholestasis 2
Pityriasis rubra pilaris OMIM mapping confirmed by DO. [SN].
Ataxia with 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.
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Afibrinogenemia
Coloboma, uveal, with cleft lip and palate and mental retardation
Ventricular tachycardia
Cataract, microphthalmia and nystagmus
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.
Generalized epilepsy with febrile seizures plus 3
Segawa syndrome, autosomal recessive
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Methylmalonic aciduria, cblD type, variant 2
Foveal hypoplasia and anterior segment dysgenesis
Multiple pterygium syndrome Escobar type
PC-K6a
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Alopecia universalis congenita
Axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Pitt-Hopkins-like syndrome 2
Pitt-Hopkins-like syndrome 1
p phenotype
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
Lynch syndrome Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms).
Vitelliform dystrophy
Neonatal adrenoleucodystrophy
Congenital short bowel syndrome, X-linked
Benign familial hematuria
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.
Deficiency of galactokinase
ACTH deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.
Cole disease
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
Myopia 23, autosomal recessive
Klippel-Feil syndrome 2, autosomal recessive
Microspherophakia
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Stiff skin syndrome
Parkinson disease 8, autosomal dominant
Lenz microphthalmia syndrome
Spastic paraplegia 35
Myopathy, tubular aggregate, 2
Mental retardation, autosomal dominant 9
Familial dysautonomia OMIM mapping confirmed by DO. [SN].
Dysplasminogenemia
Glycogen storage disease IXa2
Mental retardation, autosomal dominant 8
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement.
Marshall/Stickler syndrome
Schwartz Jampel syndrome type 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8
Brachydactyly type B1
Grebe syndrome
Deafness, autosomal recessive 8
Deafness, autosomal recessive 9
Dysfibrinogenemia Qualitatively abnormal fibrinogen.
Deafness, autosomal recessive 3
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.
Deafness, autosomal recessive 6
Deafness, autosomal recessive 7
Ataxia, sensory, autosomal dominant
Refsum disease, adult, 1
PROPERDIN DEFICIENCY, TYPE III
Porphyria, acute intermittent, nonerythroid variant
Carboxylesterase 1 deficiency
Hereditary lymphedema type I
Surfactant metabolism dysfunction, pulmonary, 3
Spinocerebellar ataxia, autosomal recessive 15
Bone fragility with contractures, arterial rupture, and deafness
Cleidocranial dysplasia, forme fruste, with brachydactyly
Spinocerebellar ataxia, autosomal recessive 12
Spinocerebellar ataxia, autosomal recessive 11
Spinocerebellar ataxia, autosomal recessive 10
Congenital heart disease, multiple types, 2
Spastic paraplegia 44, autosomal recessive
Spastic ataxia 5, autosomal recessive
Mutilating keratoderma
Myasthenic syndrome, slow-channel congenital
Mucopolysaccharidosis, MPS-I-S
Pituitary dependent hypercortisolism
Myofibrillar myopathy, filamin C-related
Pulmonary alveolar microlithiasis OMIM mapping confirmed by DO. [SN].
Spinocerebellar ataxia 5
Floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Warburg micro syndrome 1
Warburg micro syndrome 3
Warburg micro syndrome 2
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
Werdnig-Hoffmann disease OMIM mapping confirmed by DO. [SN].
Hermansky-Pudlak syndrome 1
Osteitis deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Osler hemorrhagic telangiectasia syndrome An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Hereditary diffuse leukoencephalopathy with spheroids Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Charcot-Marie-Tooth disease, recessive intermediate B
Wieacker syndrome
Parkinson disease 14
Double outlet right ventricle OMIM mapping confirmed by DO. [SN].
Parkinson disease 15
Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Purine-nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.
Osteopetrosis autosomal dominant type 1
Parietal foramina 2
Kabuki make-up syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Gm2-gangliosidosis, variant b1
Severe congenital neutropenia X-linked
Homocystinuria, cblD type, variant 1
Tetralogy of Fallot OMIM mapping confirmed by DO. [LS].
Neonatal intrahepatic cholestasis caused by citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Indifference to pain, congenital, autosomal recessive
Congenital stationary night blindness, autosomal dominant 1
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.
Oligodontia-colorectal cancer syndrome
Atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Filippi syndrome
Retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Lethal congenital contractural syndrome 3
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Acrodysostosis 2, with or without hormone resistance
Retinitis pigmentosa 17
Juvenile nephropathic cystinosis
Myopathy with lactic acidosis, hereditary
Primrose syndrome
Complement component 6 deficiency NT MGI.
Chronic granulomatous disease, X-linked
Antithrombin III deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
Perrault syndrome 4
Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
Inosine triphosphatase deficiency
Marshall-Smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
Junctional epidermolysis bullosa gravis of Herlitz
Loeys-Dietz syndrome
Familial febrile seizures 8
Congenital heart defects, multiple types, 4
Congenital erythropoietic porphyria
Corneal dystrophy, fuchs endothelial, 8
Brittle cornea syndrome 2
Rotor syndrome Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Corneal dystrophy, fuchs endothelial, 4
Spherocytosis type 1
Corneal dystrophy, fuchs endothelial, 6
Spastic paraplegia 72, autosomal dominant
Spherocytosis type 5
Oral-facial-digital syndrome
Ovarioleukodystrophy
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Cardiomyopathy, dilated, 1nn
Pyridoxal 5'-phosphate-dependent epilepsy
Hemoglobinopathy
Acrocallosal syndrome, Schinzel type
Secondary hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
Craniometaphyseal dysplasia, autosomal dominant
Gray platelet syndrome Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
Mast syndrome A hereditary spastic paraplegia associated with dementia.
Amish infantile epilepsy syndrome
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Pontocerebellar hypoplasia, type 10 NT MGI.
3-Methylglutaconic aciduria type 3
Growth hormone deficiency with pituitary anomalies
Stormorken syndrome
Hypomagnesemia 4, renal
Opitz-Frias syndrome
congenital neutropenia A form of neutropenia with congenital onset.
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Schneckenbecken dysplasia
Acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Retinal degeneration, autosomal recessive, clumped pigment type
Cardio-facio-cutaneous 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.
Mitochondrial DNA depletion syndrome 11
Kallmann syndrome 1
Kallmann syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Kallmann syndrome 4
Kallmann syndrome 5
Kallmann syndrome 6
Yunis Varon syndrome
Early infantile epileptic encephalopathy 18
Early infantile epileptic encephalopathy 13
Tremor, hereditary essential, 4
Hyperchlorhidrosis, isolated
Early infantile epileptic encephalopathy 10
Early infantile epileptic encephalopathy 17
Early infantile epileptic encephalopathy 16
Early infantile epileptic encephalopathy 14
FLNB-Related Disorders
Syndactyly type 5 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Homocystinuria, pyridoxine-nonresponsive
Terminal osseous dysplasia
Friedreich's ataxia Xref MGI.
MEN2 phenotype: Unknown:Multiple endocrine neoplasia, type 2a
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
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.
Dystonia 10
Dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Ulna and fibula absence of with severe limb deficiency
Cowden syndrome
Dystonia 18 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
Amyotrophic lateral sclerosis 6, autosomal recessive
Growth hormone insensitivity with immunodeficiency
Retinitis pigmentosa 19
Mulibrey nanism syndrome
Ohdo syndrome, X-linked
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Epilepsy, progressive myoclonic 2b
Hypothyroidism, congenital, nongoitrous, 1
Hypothyroidism, congenital, nongoitrous, 5
Hypothyroidism, congenital, nongoitrous, 6
Primary hyperoxaluria, type I
Retinitis pigmentosa 60
Homocysteinemia due to MTHFR deficiency
Epidermolysis bullosa simplex, autosomal recessive 2
Beta thalassemia intermedia Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Nephrotic syndrome, idiopathic, steroid-resistant
Townes-Brocks-branchiootorenal-like syndrome
SeSAME syndrome
Pustular psoriasis, generalized
Deficiency of pyrroline-5-carboxylate reductase
Immunodeficiency due to ficolin 3 deficiency
Corneal dystrophy Fuchs endothelial 1
Deafness, autosomal recessive 18b
Sarcosine dehydrogenase deficiency
Retinitis pigmentosa 14
ZNF711-Related X-linked Mental Retardation
Congenital disorder of glycosylation type 1s
Vitreoretinochoroidopathy dominant
Odontotrichomelic syndrome
Congenital disorder of glycosylation type 1L
Limb-girdle muscular dystrophy, type 1F
Limb-girdle muscular dystrophy, type 1E
Spastic ataxia Charlevoix-Saguenay type
Resting heart rate
Epidermolysis bullosa, junctional, localisata variant
Trimethylaminuria Increased concentration of trimethylamine in the urine.
Erythrokeratodermia with ataxia Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Factor v and factor viii, combined deficiency of, 2
Severe X-linked myotubular myopathy
Delta-0-thalassemia
Breast cancer, early-onset
Branched-chain ketoacid dehydrogenase kinase deficiency
Thrombophilia due to activated protein C resistance
Juvenile GM>1< gangliosidosis GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.
Atrioventricular septal defect, partial, with heterotaxy syndrome
Meckel syndrome, type 6
L-ferritin deficiency
Parkinson disease 19, juvenile-onset
Histidinemia A histidine metabolism disease that involves a deficiency of the enzyme histidase.
Infantile liver failure syndrome 1
Spastic paraplegia 26
Infantile liver failure syndrome 2
Neurodegeneration with brain iron accumulation 2b
Dystransthyretinemic euthyroidal hyperthyroxinemia
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
Lamellar ichthyosis OMIM mapping confirmed by DO. [SN].
Sensorineural deafness with mild renal dysfunction
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Hypomyelination, global cerebral
Niemann-Pick disease type C2
Niemann-Pick disease type C1
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Lowe syndrome
Rhizomelic chondrodysplasia punctata type 1
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Retinitis Pigmentosa 23
Reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Hypogonadotropic hypogonadism 13 with or without anosmia
Cholestanol storage disease
Ehlers-Danlos syndrome, type 7B
Ehlers-Danlos syndrome, musculocontractural type 2
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Myopathy, actin, congenital, with excess of thin myofilaments
Fleck retina, familial benign
Multiple congenital anomalies-hypotonia-seizures syndrome
Rett syndrome, congenital variant
Spinocerebellar ataxia, X-linked 1
Van Maldergem syndrome 2
X-linked familial exudative vitreoretinopathy
Arginase deficiency
Robinow syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
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.
Bone marrow failure syndrome 2
Brachydactyly type E2
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3
Supravalvar aortic stenosis a narrowing, diffuse constriction or obstruction of the ascending aorta located just distal to the aortic valve at the aortic root
Prolonged electroretinal response suppression
Hepatic lipase deficiency
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Orofaciodigital syndrome 6
Orofaciodigital syndrome 5
Factor X deficiency
Metacarpal 4-5 fusion
Delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Leukoencephalopathy with ataxia
Hereditary Paragangliomas and Pheochromocytomas
Distichiasis-lymphedema syndrome
Townes syndrome
Cowden disease 3
Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Winchester syndrome
Combined immunodeficiency, X-linked
Familial colorectal cancer
Unverricht-Lundborg syndrome OMIM mapping confirmed by DO. [LS].
X-linked rolandic epilepsy with mental retardation and speech dyspraxia
Band-like calcification with simplified gyration and polymicrogyria No OMIM mapping, confirmed by DO. [SN].
Spastic paraplegia 55, autosomal recessive
Autosomal recessive congenital ichthyosis 9
Xeroderma pigmentosum, complementation group b Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.
Eichsfeld type congenital muscular dystrophy
Verheij syndrome
Rapp-Hodgkin ectodermal dysplasia syndrome
Familial porphyria cutanea tarda
Renal tubular acidosis, distal, with normal red cell morphology
Non-syndromic genetic deafness
Hypercarotenemia and vitamin a deficiency, autosomal dominant
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.
Familial hypertrophic cardiomyopathy 20
Efavirenz response
Renal dysplasia Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
Syndactyly type 9 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
Tay-sachs disease, juvenile
Myocardial infarction 1
Glycogen storage disease IIIa
Distal hereditary motor neuronopathy type 2A
Distal hereditary motor neuronopathy type 2C
Distal hereditary motor neuronopathy type 2B
Progressive familial intrahepatic cholestasis 4
Stargardt disease 1 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
Pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.
Advanced sleep phase syndrome, familial, 2
Congenital disorder of glycosylation type 2B
Congenital disorder of glycosylation type 2C
Sick sinus syndrome 1, autosomal recessive
Arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
Nonsyndromic Deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
Hereditary factor IX deficiency disease
Congenital disorder of glycosylation type 2J
Congenital disorder of glycosylation type 2L
Distal myopathy Markesbery-Griggs type
Bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Juvenile polyposis syndrome An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
Papillon-Lefèvre syndrome
Alpha-fetoprotein deficiency
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
Parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck.
Congenital disorder of glycosylation type 2k
Brown-vialetto-van laere syndrome 2
Spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration.
Myopathy, congenital, with excess of muscle spindles
Microcephaly, epilepsy, and diabetes syndrome
Peters plus syndrome Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism.
Cerebellar ataxia and hypogonadotropic hypogonadism
Hypermethioninemia due to adenosine kinase deficiency
NSDHL-Related Disorders
Ulnar-mammary syndrome
Ocular albinism, type I
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
Coproporphyria
Mental retardation, autosomal recessive 18
Hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Schimke immunoosseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Vitamin k-dependent clotting factors, combined deficiency of, 1
Spastic paraplegia 63, autosomal recessive
Lymphedema, hereditary, ic
Lymphedema, hereditary, id
Deficiency of iodide peroxidase
Glycosylphosphatidylinositol deficiency
Myopathy, distal, 4
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Vitamin k-dependent clotting factors, combined deficiency of, 2
Mental retardation, autosomal recessive 27
Spastic paraplegia 31, autosomal dominant
Zunich neuroectodermal syndrome
Conotruncal heart malformations
Nemaline myopathy 2, autosomal recessive
Myoclonus, familial cortical
Erythropoietic protoporphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Leukocyte adhesion deficiency type 1
Congenital lactase deficiency Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
3-methylglutaconic aciduria type V
Beckwith-Wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Congenital myotonia, autosomal recessive form
Aplasia cutis congenita A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
Van Maldergem Wetzburger Verloes syndrome
X-linked mental retardation, with or without seizures, ARX-related
Hereditary myopathy with early respiratory failure
Deafness, autosomal recessive 91
Sotos' syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
Severe congenital neutropenia 6, autosomal recessive
Dyggve-Melchior-Clausen syndrome
Congenital disorder of glycosylation type 1Q
Cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
Baraitser-Winter Syndrome 2
Congenital disorder of glycosylation type 1P
Three M syndrome 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Nephronophthisis 15
Hypokalemic periodic paralysis, type 2
Migraine, familial basilar
Howel-Evans syndrome
Breast-ovarian cancer, familial 2
X-linked myopathy with postural muscle atrophy
Myoclonic dystonia Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
Cataract, membranous
Acrocapitofemoral dysplasia OMIM mapping confirmed by DO. [SN].
Optic atrophy and cataract, autosomal dominant
Senior-Loken syndrome 7
Sandhoff disease, adult type
Senior-Loken syndrome 4
Congenital disorder of glycosylation type 1H
Gaucher disease, perinatal lethal
Malformation of the heart
Senior-Loken syndrome 5
Hypercholanemia, familial
Myasthenic syndrome, congenital, with tubular aggregates 2
Hypogonadotropic hypogonadism No OMIM mapping, confirmed by DO. [LS].
Dilated cardiomyopathy 1C
Renal cell carcinoma, papillary, 1
MYH-associated polyposis
Cataract, juvenile, with microcornea and glucosuria
Leri Weill dyschondrosteosis
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Infantile nephronophthisis
Glycogen storage disease type 13
D-2-hydroxyglutaric aciduria 2
Caspase-8 deficiency
Progressive myoclonus epilepsy with ataxia
Congenital disorder of glycosylation type 1N
Alexander's 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.
Optic Atrophy Type 1
Rhabdoid tumor predisposition syndrome 2
Lethal arthrogryposis with anterior horn cell disease
Mucopolysaccharidosis type VI
Deafness, autosomal dominant 11
Finnish congenital nephrotic syndrome
Tatton-Brown-rahman syndrome
Dentinogenesis imperfecta - Shield's type II
Glutaric acidemia IIA
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Glutaric acidemia IIC
Glutaric acidemia IIB
Syndactyly type 3 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Phosphoglycerate kinase 1 deficiency
Multiple gastrointestinal atresias
MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE
Dilated cardiomyopathy 1M
Bile acid synthesis defect, congenital, 1
Anaphylotoxin inactivator deficiency
Bile acid synthesis defect, congenital, 2
Acromelic frontonasal dysostosis
Dilated cardiomyopathy 1N
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
COACH syndrome Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Hypochromic microcytic anemia with iron overload
Congenital disorder of glycosylation type 1F
Short rib polydactyly syndrome 5
Adult junctional epidermolysis bullosa
Short rib polydactyly syndrome 6
Ceroid lipofuscinosis, neuronal, 2
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).
Deafness, autosomal recessive 84b
Variegate porphyria
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
X-linked hydrocephalus syndrome
Multiple exostoses type 2
Acquired long QT syndrome A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.
Hypomagnesemia 5, renal, with ocular involvement
Obesity OMIM mapping confirmed by DO. [SN].
Cholestasis, intrahepatic, of pregnancy 3
Gm2-gangliosidosis, juvenile
Cytochrome-c oxidase deficiency
Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
Phosphohydroxylysinuria
Thyroid cancer, follicular
Glycogen storage disease type 1A Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).
Enterokinase deficiency
Cornelia de Lange syndrome 1
Interstitial nephritis, karyomegalic
Aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
Coenzyme Q10 deficiency, primary, 6
Primary pulmonary hypertension 3
Coenzyme Q10 deficiency, primary, 5
Coenzyme Q10 deficiency, primary, 2
Coenzyme Q10 deficiency, primary, 3
Erythrocyte amp deaminase deficiency
Sudden infant death syndrome A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Factor VII deficiency
Pseudo-Hurler polydystrophy Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Galactosialidosis, early infantile
Epidermolysis bullosa with pyloric atresia
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency
Bone marrow failure, familial
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
Postaxial polydactyly type A6
Pyloric stenosis, infantile hypertrophic, 5
Cerebellar ataxia, deafness, and narcolepsy
Congenital disorder of glycosylation type 1v
Congenital muscular dystrophy A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
Blood group, gerbich system
Cataract, congenital nuclear, autosomal recessive 2
Cataract, congenital nuclear, autosomal recessive 3
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Facioscapulohumeral muscular dystrophy 2
Ceroid lipofuscinosis neuronal 10
Dursun syndrome
Distal hereditary motor neuronopathy type 5B
Severe combined immunodeficiency, atypical
Cone monochromatism
Sitosterolemia
Posterior polar cataract type 2
Retinitis pigmentosa 69
Retinitis pigmentosa 68
Retinitis pigmentosa 67
Retinitis pigmentosa 66
Retinitis pigmentosa 64
Retinitis pigmentosa 62
Carpenter syndrome 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Aortic aneurysm, familial thoracic 4
Glucose-6-phosphate transport defect
Li-Fraumeni syndrome 1
Haim-Munk syndrome
Knobloch syndrome 1
Diabetes mellitus, insulin-dependent, 20
Tooth agenesis, selective, 4
Iodotyrosine deiodination defect
Carbohydrate-deficient glycoprotein syndrome type I
METHEMOGLOBINEMIA, TYPE I
Polymicrogyria, bilateral perisylvian, autosomal recessive
Advanced sleep phase syndrome, familial
Deafness, autosomal dominant 15
Hypoplastic enamel-onycholysis-hypohidrosis syndrome A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 8
Deafness, autosomal dominant 12
Deafness, autosomal dominant 13
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 1
Jarcho-Levin syndrome A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
Bardet-Biedl syndrome 2
Ataxia-telangiectasia-like disorder 2
Cornelia de Lange syndrome 3
Primary pulmonary hypertension 4
Dowling-Degos disease 2
Primary pulmonary hypertension 2
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
C3hex, ability to smell
Pseudoexfoliation glaucoma OMIM mapping confirmed by DO. [SN].
Tay-Sachs disease, B1 variant
Arrhythmogenic right ventricular cardiomyopathy An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
Tooth agenesis, selective, X-linked, 1
Schnyder crystalline corneal dystrophy
Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Autosomal recessive Dejerine-Sottas syndrome
Candidiasis, familial, 2
Candidiasis, familial, 5
Kabuki syndrome 2
Tritanopia A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).
Retinal cone dystrophy 4
Hypogonadotropic hypogonadism 10 with or without anosmia
Mast cell disease, systemic
Coffin Siris/Intellectual Disability
Hay-Wells syndrome of ectodermal dysplasia
ACTH resistance
Bombay phenotype
Polycystic kidney disease, adult type
Immunodeficiency 31C
Colorblindness, partial, deutan series
Diabetes mellitus type 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Non-ketotic hyperglycinemia An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Spherocytosis type 4
Familial hypokalemia-hypomagnesemia
Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).
Juvenile macular degeneration and hypotrichosis
Cushing's symphalangism An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Age-related macular degeneration 6
Age-related macular degeneration 3
Cardiomyopathy, dilated, 1u
Emery-dreifuss muscular dystrophy 6
Myasthenia, limb-girdle, familial
Apolipoprotein a-i deficiency
Hereditary motor and sensory neuropathy with optic atrophy
Microphthalmia, syndromic, 7
Primary hyperparathyroidism Xref MGI.
Immunodeficiency 31a
Spastic paraplegia 39
Mental retardation, autosomal recessive 39
Keratosis follicularis OMIM mapping confirmed by DO. [SN].
Glut1 deficiency syndrome 1, autosomal recessive
Charcot-Marie-Tooth disease dominant intermediate 3
Atrial fibrillation, familial, 13
Atrial fibrillation, familial, 12
Atrial fibrillation, familial, 11
Dilated cardiomyopathy 1EE
Atrial fibrillation, familial, 17
Atrial fibrillation, familial, 16
Atrial fibrillation, familial, 15
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
Hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
Joubert syndrome 12/15, digenic
Serkal syndrome
Hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
Neutral lipid storage disease with myopathy
Thrombophilia due to thrombomodulin defect
Marinesco-Sjögren syndrome
Seckel syndrome 8
Ovarian dysgenesis 1
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
Dilated cardiomyopathy 3B
Seckel syndrome 2
Seckel syndrome 1
Seckel syndrome 7
Deafness, autosomal dominant nonsyndromic sensorineural 17
Haemorrhagic telangiectasia 1
WFS1-Related Disorders
Deafness, autosomal recessive 86
Sandhoff disease, infantile
Gamma-aminobutyric acid transaminase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Deafness, autosomal recessive 81
Ring dermoid of cornea
Oculodentodigital dysplasia, autosomal recessive
Myeloperoxidase deficiency
Deafness, autosomal recessive 89
Deafness, autosomal recessive 88
Dyskeratosis congenita, autosomal dominant, 3
Hemophagocytic lymphohistiocytosis, familial, 5
Hemophagocytic lymphohistiocytosis, familial, 4
Neu-laxova syndrome 2
Urofacial syndrome 2
Hemophagocytic lymphohistiocytosis, familial, 3
Hemophagocytic lymphohistiocytosis, familial, 2
Mitochondrial phosphate carrier deficiency
Hereditary factor XI deficiency disease
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE
Porphobilinogen synthase deficiency
Gordon's syndrome
Lynch syndrome:Lynch syndrome
Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
Thyroid dyshormonogenesis 1
Myasthenia, limb-girdle, with tubular aggregates
Renal carnitine transport defect
Thyroid dyshormonogenesis 6
Nephronophthisis-like nephropathy 1
Noonan syndrome 8
Noonan syndrome 5
Noonan syndrome 4
Noonan syndrome 7
Noonan syndrome 6
Noonan syndrome 1
Noonan syndrome 3
Microcephalic osteodysplastic primordial dwarfism type 2
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Coloboma of optic disc
Left ventricular noncompaction 8
Spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
Left ventricular noncompaction 6
Left ventricular noncompaction 7
Vesicoureteral reflux 8
Left ventricular noncompaction 5
Diabetes mellitus, permanent neonatal, with cerebellar agenesis
McKusick Kaufman syndrome
Pontocerebellar hypoplasia type 2D NT MGI.
Atrophia bulborum hereditaria 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.
Elliptocytosis 3
Orofacial cleft 11
Autoimmune polyglandular syndrome type 1, autosomal dominant
Nemaline myopathy 10
Rubinstein-Taybi syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
Nephrotic syndrome, type 5, with or without ocular abnormalities
Very long chain acyl-CoA dehydrogenase deficiency Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE
Optic nerve hypoplasia, bilateral
Ventricular fibrillation, paroxysmal familial, 2
IRAK4 deficiency
Diabetes mellitus type 2
Infantile hypophosphatasia
Leukocyte adhesion deficiency OMIM mapping confirmed by DO. [SN].
FG syndrome 2
Muscular dystrophy, congenital, due to ITGA7 deficiency
Hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
Loeys-Dietz syndrome, type 2
Colchicine resistance
Retinitis pigmentosa 37
Split-hand/foot malformation 6
Keratosis pilaris decalvans
Xeroderma pigmentosum, variant type
Hypogonadotrophic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Methemoglobinemia type 2
Maple syrup urine disease type 1A
Dysgnathia complex
Glycogen storage disease, type VII OMIM mapping confirmed by DO. [SN].
Stickler syndrome type 1
Peroxisome biogenesis disorder 2A
Glycogen storage disease XV
Age-related macular degeneration 11
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
Hemoglobin H disease, nondeletional
Age-related macular degeneration 14
Recessive dystrophic epidermolysis bullosa
Potassium aggravated myotonia Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms).
Axenfeld-rieger anomaly
Generalized epilepsy with febrile seizures plus, type 9
Deafness, autosomal recessive 48
Cortisone reductase deficiency 2
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Generalized epilepsy with febrile seizures plus, type 1
Splenic hypoplasia
Generalized epilepsy with febrile seizures plus, type 2
Multiple endocrine neoplasia, type 2a An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Glycogen content in skeletal muscle, increased
Polyglandular autoimmune syndrome, type 1
Atrioventricular septal defect 4
Atrioventricular septal defect 5
Cholestasis of pregnancy
Short-rib thoracic dysplasia 10 with or without polydactyly
Marfan's syndrome:Marfan's syndrome
Arginine:glycine amidinotransferase deficiency An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
Ciliary dyskinesia, primary, 13
Ciliary dyskinesia, primary, 12
Ciliary dyskinesia, primary, 11
Ciliary dyskinesia, primary, 10
Ciliary dyskinesia, primary, 17
Ciliary dyskinesia, primary, 16
Ciliary dyskinesia, primary, 15
Ciliary dyskinesia, primary, 14
Pyruvate kinase deficiency
Ciliary dyskinesia, primary, 19
Ciliary dyskinesia, primary, 18
Osteogenesis imperfecta type 13
Methionine adenosyltransferase deficiency, autosomal dominant
Deafness, autosomal recessive 2
Dermatofibrosis lenticularis disseminata
Cyclical neutropenia OMIM mapping confirmed by DO. [SN].
Greenberg dysplasia
Ventricular tachycardia, catecholaminergic polymorphic, 2
Familial platelet disorder with associated myeloid malignancy
Bernard-Soulier syndrome, type A1
Pseudoprimary hyperaldosteronism
Muscle AMP deaminase deficiency
Infantile GM1 gangliosidosis GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
Arthrogryposis renal dysfunction cholestasis syndrome
Retinitis pigmentosa 70
Pachyonychia congenita type 2
Severe combined immunodeficiency disease
Dihydropyrimidinase deficiency 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.
Deafness, autosomal dominant 2b
EEM syndrome
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.
Cardiofaciocutaneous syndrome 2
Deficiency of hydroxymethylglutaryl-CoA lyase
Familial erythrocytosis, 1
3-Methylglutaconic aciduria
Monocyte and dendritic cell deficiency, autosomal recessive
Juvenile-onset dystonia
Glycogen storage disease IXb
Glycogen storage disease IXc
Deafness, autosomal dominant 20
Deafness, autosomal dominant 22
Deafness, autosomal dominant 25
TARP syndrome
Immunodeficiency due to defect in cd3-zeta
Deafness, autosomal dominant 28
Familial medullary thyroid carcinoma OMIM mapping confirmed by DO. [SN].
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
Glucocorticoid resistance, generalized
Boomerang dysplasia OMIM mapping confirmed by DO. [SN].
Syndactyly Cenani Lenz type
Lung cancer A respiratory system cancer that is located_in the lung.
Amelogenesis imperfecta pigmented hypomaturation type
Pyruvate dehydrogenase E1-alpha deficiency
Drash syndrome
Ataxia-oculomotor apraxia 3
Glycogen storage disease, type VI A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
Isovaleryl-CoA dehydrogenase deficiency
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Muscle eye brain disease
Adult i Blood Group with or without Congenital Cataract
Focal epilepsy with speech disorder with or without mental retardation
Addison's disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Cd59 deficiency
Ataxia-telangiectasia variant
Hyperinsulinemic hypoglycemia, familial, 4
Microcephaly, hiatal hernia and nephrotic syndrome
Split-hand/foot malformation 4
Split-hand/foot malformation 1
Apocrine gland secretion, variation in
Lactase persistence
Ornithine aminotransferase deficiency
Myopathy, congenital, compton-north
Chondrocalcinosis 2
Sphingolipid activator protein 1 deficiency
Deficiency of ferroxidase
Pallister-Hall syndrome OMIM mapping confirmed by DO. [SN].
Mandibuloacral dysostosis
Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 4
Radial aplasia-thrombocytopenia syndrome
Neurodegeneration with brain iron accumulation 6
Renal hypouricemia 2
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
Craniolenticulosutural dysplasia
Spinocerebellar ataxia, autosomal recessive 14
Deficiency of steroid 11-beta-monooxygenase
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Oculodentodigital dysplasia NT MGI.
Desbuquois dysplasia 2
Epilepsy, lateral temporal lobe, autosomal dominant
Lysosomal acid lipase deficiency Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Immunodeficiency 27b
Griscelli syndrome type 2
Griscelli syndrome type 3
Hemochromatosis type 2B
Hemochromatosis type 2A
Cortical dysplasia, complex, with other brain malformations 2
Cortical dysplasia, complex, with other brain malformations 3
Cortical dysplasia, complex, with other brain malformations 6
Cortical dysplasia, complex, with other brain malformations 4
Cortical dysplasia, complex, with other brain malformations 5
Dopamine beta hydroxylase deficiency
Congenital cystic disease of liver
Aortic aneurysm, familial thoracic 7
Hypokalemic periodic paralysis 1
Hereditary angioedema type 1 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Cleft palate with ankyloglossia
Distal arthrogryposis type 1B
Cortical malformations, occipital
Aortic aneurysm, familial thoracic 8
Aortic aneurysm, familial thoracic 9
Spinocerebellar ataxia, autosomal recessive 9
Spinocerebellar ataxia, autosomal recessive 8
Dominant dystrophic epidermolysis bullosa with absence of skin
Pancreatic agenesis and congenital heart disease
Hyperlipidemia, familial combined
Gm2-gangliosidosis, adult
Caudal regression syndrome
Catel Manzke syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.
Marie Unna hereditary hypotrichosis 1
Trichohepatoenteric syndrome Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Pseudohypoaldosteronism type 1 autosomal recessive
Disseminated atypical mycobacterial infection
Dystonia 25
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Lymphangiomyomatosis
Mental retardation, autosomal recessive 38
HYPERLIPOPROTEINEMIA, TYPE ID
Cockayne syndrome type A
Sclerocornea, autosomal recessive
Warsaw breakage syndrome
Lhermitte-Duclos disease
46,XY sex reversal, type 5
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type
46,XY sex reversal, type 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
UDPglucose-4-epimerase deficiency
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 15
Homocystinuria due to MTHFR deficiency
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 16
Split-hand/foot malformation 1 with sensorineural hearing loss
Popliteal pterygium syndrome NT MGI.
Premature ovarian failure 2b
Amyotrophic lateral sclerosis 16, juvenile
Deficiency of alpha-mannosidase
Keratoderma palmoplantar deafness
Spastic paraplegia 56, autosomal recessive
CONE DYSTROPHY 5, X-LINKED
SHORT syndrome
Familial amyloid polyneuropathy, Iowa type
Syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
Jervell and Lange-Nielsen syndrome
GATA-1-related thrombocytopenia with dyserythropoiesis
Combined malonic and methylmalonic aciduria
Palmoplantar keratoderma, nagashima type
Bainbridge-Ropers syndrome
Capillary malformation-arteriovenous malformation
Orofaciodigital syndrome xiv
Kugelberg-Welander disease OMIM mapping confirmed by DO. [SN].
Mental retardation, autosomal recessive 34
Primary hypomagnesemia
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.
Dilated cardiomyopathy 1DD
Atrial fibrillation, familial, 14
Hyperkalemic Periodic Paralysis Type 1
Deafness, autosomal recessive 53
Osteogenesis imperfecta Levin type
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Congenital disorder of glycosylation type Ix
Insulin-like growth factor I deficiency
Familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
Microcornea, myopic chorioretinal atrophy, and telecanthus
Bent bone dysplasia syndrome
Epilepsy, familial adult myoclonic, 5
Schizencephaly The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
Pachydermoperiostosis syndrome
Congenital order of glycosylation type 1r
Spondylometaphyseal dysplasia with cone-rod dystrophy
Lattice corneal dystrophy type 3A
Atrial myxoma, familial
BRACHYDACTYLY, TYPE A1, C
2-methyl-3-hydroxybutyric aciduria
Idiopathic basal ganglia calcification 5
Fluorouracil response
Idiopathic basal ganglia calcification 1
Bardet-Biedl syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Ullrich congenital muscular dystrophy OMIM mapping confirmed by DO. [SN].
Myotonia congenita OMIM mapping confirmed by DO. [SN].
Pseudohypoaldosteronism type 2D
Crouzon syndrome with acanthosis nigricans
Hypodysfibrinogenemia
Glomerulopathy with fibronectin deposits 2
Leigh syndrome due to mitochondrial complex II deficiency
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
Lipid proteinosis
Pituitary hormone deficiency, combined 4
Pituitary hormone deficiency, combined 3
Pituitary hormone deficiency, combined 2
Pituitary hormone deficiency, combined 1
Nance-Horan syndrome
Multiple mitochondrial dysfunctions syndrome 3
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Multiple mitochondrial dysfunctions syndrome 1
Saethre-Chotzen syndrome with eyelid anomalies
Hereditary pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
BLOOD GROUP--OK
Spastic paraplegia 30, autosomal recessive
Gerstmann-Straussler-Scheinker syndrome A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Deafness, autosomal recessive
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor
Retin