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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
alopecia +     
hypotrichosis +     
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
ABCD syndrome  
abetalipoproteinemia +   
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
adult spinal muscular atrophy  
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
alopecia +   
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C  
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
Antley-Bixler syndrome +   
ARC syndrome  
arrhythmogenic right ventricular dysplasia 11  
asphyxiating thoracic dystrophy +   
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital ichthyosis 11  
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive type IV Ehlers-Danlos syndrome 
Bardet-Biedl syndrome +   
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Boucher-Neuhauser syndrome  
Bowen-Conradi syndrome  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Bullous Dystrophy, Hereditary Macular Type 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
cartilage-hair hypoplasia  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Central Centrifugal Cicatricial Alopecia  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
Chediak-Higashi syndrome +   
choreaacanthocytosis  
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
cold-induced sweating syndrome +   
combined malonic and methylmalonic acidemia  
congenital adrenal insufficiency  
Congenital Alopecia X-Linked 
congenital amegakaryocytic thrombocytopenia  
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital generalized lipodystrophy +   
congenital generalized lipodystrophy type 4  
congenital hereditary endothelial dystrophy of cornea  
congenital hypotrichosis with juvenile macular dystrophy  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
cortical dysplasia-focal epilepsy syndrome  
cortisone reductase deficiency 1  
craniolenticulosutural dysplasia  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
cystathioninuria  
cystic fibrosis +   
cystinosis +   
Dermatopathia Pigmentosa Reticularis  
diastrophic dysplasia +   
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome +   
Dyggve-Melchior-Clausen disease +   
dystonia 16  
dystonia 27  
dystonia 5  
EAST syndrome  
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
factor XII deficiency  
familial erythrocytosis 2  
Familial Focal Alopecia 
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
fibular hypoplasia and complex brachydactyly  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Fraser syndrome +   
Frontonasal Dysplasia 2  
Fuhrmann syndrome  
Fukuyama congenital muscular dystrophy  
fumarase deficiency  
Galloway-Mowat syndrome +   
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
Garret Tripp Syndrome 
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gitelman syndrome  
Glomerulonephritis with Sparse Hair and Telangiectases  
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Griscelli syndrome +   
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hermansky-Pudlak syndrome +   
histiocytosis-lymphadenopathy plus syndrome  
hydrolethalus syndrome +   
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hypergonadotropic Hypogonadism And Partial Alopecia 
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypohidrotic ectodermal dysplasia +   
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 14  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2. (DO)
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis and recurrent skin vesicles  
hypotrichosis of eyelid 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
intermediate spinal muscular atrophy  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jagell Holmgren Hofer Syndrome 
JMP syndrome  
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 
Kufor-Rakeb syndrome  
Kuster Majewski Hammerstein Syndrome 
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Laurence-Moon syndrome  
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loose Anagen Hair Syndrome +   
Loucks-Innes Syndrome  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
mandibulofacial dysostosis with alopecia  
Marinesco-Sjogren syndrome  
McKusick-Kaufman syndrome  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Sparse Hair Mental Retardation Seizures 
microphthalmia with limb anomalies  
microvillus inclusion disease  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
Moloney Syndrome 
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mucosulfatidosis  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NGLY1-deficiency  
Nicolaides Baraitser Syndrome  
Nijmegen breakage syndrome +   
Nisch syndrome  
nonphotosensitive trichothiodystrophy +   
Noonan syndrome 2  
Norman-Roberts syndrome  
oculocutaneous albinism +   
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
orofaciodigital syndrome V  
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoporosis-pseudoglioma syndrome  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
palmoplantar keratoderma and congenital alopecia 2 
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
PARC Syndrome 
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Patel Bixler Syndrome 
Pendred syndrome  
pentosuria  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
PHARC syndrome  
Pierson syndrome  
poikiloderma with neutropenia  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
postaxial acrofacial dysostosis  
primary autosomal recessive microcephaly +   
progeria +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive pseudorheumatoid arthropathy of childhood  
prothrombin deficiency +   
prune belly syndrome +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyruvate kinase deficiency of red cells  
rapadilino syndrome  
recessive dystrophic epidermolysis bullosa  
reticular dysgenesis  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Rombo syndrome 
Ruijs-Aalfs syndrome  
salt and pepper syndrome  
Satoyoshi Syndrome 
SC phocomelia syndrome  
Schimke immuno-osseous dysplasia  
Scholte Syndrome 
Schopf-Schulz-Passarge Syndrome  
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia  
Sjogren-Larsson syndrome +   
Slti Salem Syndrome 
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Storm Syndrome 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
telogen effluvium 
temtamy preaxial brachydactyly syndrome  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
torsion dystonia 17 
torsion dystonia 2  
Trichoodontoonychial Dysplasia 
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Ullrich congenital muscular dystrophy +   
Urban Schosser Spohn Syndrome 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Van Maldergem syndrome +   
Vici syndrome  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
Werner syndrome +   
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Woodhouse Sakati Syndrome  
Woolly Hair, Autosomal Recessive 3  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: HYPT7 ;   Hypotrichosis, Autosomal Recessive ;   Hypotrichosis, Localized, Autosomal Recessive, 2 ;   LAH2 ;   Mari type Alopecia universalis congenita ;   Total Hypotrichosis, Mari Type
Primary IDs: MESH:C536973
Alternate IDs: DOID:9000861 ;   OMIM:604379 ;   RDO:0002708 ;   RDO:9003979
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20393562

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.