Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism (DOID:0060797)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
2-aminoadipic 2-oxoadipic aciduria  
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 +   
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
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  
acrorenal syndrome +  
adenine phosphoribosyltransferase deficiency  
adult spinal muscular atrophy  
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
alacrima, achalasia, and impaired intellectual development syndrome  
Alkuraya-Kucinskas syndrome  
alopecia universalis +   
alopecia, neurologic defects, and endocrinopathy syndrome  
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
alopecia-mental retardation syndrome 3 
alopecia-mental retardation syndrome 4  
Alpers-Huttenlocher syndrome +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
AMED 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 1J  
amelogenesis imperfecta type 2A1  
amelogenesis imperfecta type 2A6  
amelogenesis imperfecta type 3C  
anauxetic dysplasia 1  
anauxetic dysplasia 2  
anauxetic dysplasia 3  
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
antithrombin III deficiency  
Antley-Bixler syndrome +   
ARC syndrome +   
arthrogryposis multiplex congenita-1  
arthrogryposis multiplex congenita-3  
arthrogryposis multiplex congenita-4  
arthrogryposis multiplex congenita-5  
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Attention Deficit and Disruptive Behavior Disorders +   
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant cerebellar ataxia +   
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 bilateral absence of vas deferens  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital nystagmus 
autosomal recessive craniometaphyseal dysplasia  
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 intellectual developmental disorder +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
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 Peripheral Neuropathy with or without Impaired Intellectual Development  
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 spondyloepiphyseal dysplasia tarda 
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 
autosomal recessive thrombophilia due to protein C deficiency  
autosomal recessive thrombophilia due to protein S deficiency  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
axial osteomalacia 
Axial Osteosclerosis 
axial spondylometaphyseal dysplasia  
Baker-Gordon Syndrome  
Baralle-Macken Syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Behr syndrome  
Benign Cerebellar Ataxia with Thermoanalgesia 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
BH4-deficient hyperphenylalaninemia B  
bilateral frontoparietal polymicrogyria  
bilateral parasagittal parieto-occipital polymicrogyria  
biotinidase deficiency +   
Bjornstad syndrome  
Bloom syndrome  
Boucher-Neuhauser syndrome  
Bowen-Conradi syndrome  
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachyolmia-amelogenesis imperfecta syndrome  
brain small vessel disease 3  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
BURATTI-HAREL SYNDROME  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camurati-Engelmann disease +   
Canavan disease  
CAPOS Syndrome  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
Cardiofacioneurodevelopmental Syndrome  
carnitine-acylcarnitine translocase deficiency  
cartilage-hair hypoplasia  
cataract 11 multiple types +   
cataract 13 with adult i phenotype  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 22 multiple types  
cataract 33  
cataract 35 
cataract 36  
cataract 38  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 48  
cataract 9 multiple types  
CD3epsilon deficiency  
CD3gamma deficiency 
CEBALID Syndrome  
CEDNIK syndrome  
central core disease +   
Cerebellar Ataxia and Ectodermal Dysplasia 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA  
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS  
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  
cerebellofaciodental syndrome  
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 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
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 +   
Child Behavior Disorders +   
Childhood Schizophrenia  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHIME syndrome  
chondrodysplasia with joint dislocations gPAPP type  
CHOPRA-AMIEL-GORDON SYNDROME  
choreaacanthocytosis  
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
COACH syndrome +   
Cockayne syndrome +   
CODAS syndrome  
Cohen syndrome  
cold-induced sweating syndrome +   
combined cellular and humoral immune defects with granulomas  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
combined D-2- and L-2-hydroxyglutaric aciduria  
combined deficiency of vitamin K-dependent clotting factors 1  
combined deficiency of vitamin K-dependent clotting factors 2  
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 40  
combined oxidative phosphorylation deficiency 41  
combined oxidative phosphorylation deficiency 42  
combined oxidative phosphorylation deficiency 43  
combined oxidative phosphorylation deficiency 45  
combined oxidative phosphorylation deficiency 46  
combined oxidative phosphorylation deficiency 47  
combined oxidative phosphorylation deficiency 48  
combined oxidative phosphorylation deficiency 49  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 50  
combined oxidative phosphorylation deficiency 51  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
communication disorder +   
Compton-North congenital myopathy  
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
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 dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 5  
congenital generalized lipodystrophy +   
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
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 muscular dystrophy-dystroglycanopathy type A +   
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 nongoitrous hypothyroidism 7  
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  
congenital sucrase-isomaltase deficiency  
corneal dystrophy-perceptive deafness syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency 1  
craniodiaphyseal dysplasia +   
cranioectodermal dysplasia +   
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1  
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
craniolenticulosutural dysplasia  
craniometaphyseal dysplasia +   
craniotubular dysplasia Ikegawa type  
cystathioninuria  
cystic fibrosis +   
cystinosis +   
cytochrome P450 oxidoreductase deficiency  
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
developmental and epileptic encephalopathy 12  
developmental and epileptic encephalopathy 15  
developmental and epileptic encephalopathy 16  
developmental and epileptic encephalopathy 18  
developmental and epileptic encephalopathy 21  
developmental and epileptic encephalopathy 23  
developmental and epileptic encephalopathy 25  
developmental and epileptic encephalopathy 28  
developmental and epileptic encephalopathy 29  
developmental and epileptic encephalopathy 3  
developmental and epileptic encephalopathy 34  
developmental and epileptic encephalopathy 35  
developmental and epileptic encephalopathy 37  
developmental and epileptic encephalopathy 38  
developmental and epileptic encephalopathy 39  
developmental and epileptic encephalopathy 40  
developmental and epileptic encephalopathy 44  
developmental and epileptic encephalopathy 48  
developmental and epileptic encephalopathy 49  
developmental and epileptic encephalopathy 50  
developmental and epileptic encephalopathy 51  
developmental and epileptic encephalopathy 52  
developmental and epileptic encephalopathy 53  
developmental and epileptic encephalopathy 55  
developmental and epileptic encephalopathy 60  
developmental and epileptic encephalopathy 61  
developmental and epileptic encephalopathy 63  
developmental and epileptic encephalopathy 68  
developmental and epileptic encephalopathy 71  
developmental and epileptic encephalopathy 75  
developmental and epileptic encephalopathy 76  
developmental and epileptic encephalopathy 77  
developmental and epileptic encephalopathy 80  
developmental and epileptic encephalopathy 81  
developmental and epileptic encephalopathy 82  
developmental and epileptic encephalopathy 83  
developmental and epileptic encephalopathy 84  
developmental and epileptic encephalopathy 86  
developmental and epileptic encephalopathy 88  
developmental and epileptic encephalopathy 89  
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
Developmental Disabilities +   
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
distal arthrogryposis type 5D  
Distal Osteosclerosis 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Dubowitz syndrome  
Dyggve-Melchior-Clausen disease +   
Dysosteosclerosis +   
dystonia 16  
dystonia 27  
dystonia 5  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
early-onset vitamin B6-dependent epilepsy  
EAST syndrome  
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
ectopia lentis with ectopia of pupil  
Ehlers-Danlos syndrome cardiac valvular type  
Ehlers-Danlos syndrome classic-like 1  
Ehlers-Danlos syndrome classic-like 2  
Ehlers-Danlos syndrome dermatosparaxis type  
Ehlers-Danlos syndrome kyphoscoliotic type 1  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Ehlers-Danlos syndrome musculocontractural type 1  
Ehlers-Danlos syndrome musculocontractural type 2  
Ehlers-Danlos syndrome spondylodysplastic type 1  
Ehlers-Danlos syndrome spondylodysplastic type 2  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
episodic ataxia type 5  
episodic ataxia type 6  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
familial erythrocytosis 2  
familial hemiplegic migraine 1  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
familial hypertryptophanemia  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
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  
Fanconi renotubular syndrome 2  
Fanconi renotubular syndrome 5  
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  
Fazio-Londe disease  
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal encasement syndrome  
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibular hypoplasia and complex brachydactyly  
Filippi syndrome  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
Forney Robinson Pascoe Syndrome  
Frank-Ter Haar syndrome  
Fraser syndrome +   
frontonasal dysplasia 1  
frontonasal dysplasia 2  
frontonasal dysplasia 3  
Fuhrmann syndrome  
fumarase deficiency  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
GAPO syndrome  
Gaucher's disease type III +   
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
geroderma osteodysplasticum  
Ghosal hematodiaphyseal syndrome  
giant axonal neuropathy 1  
Gillespie syndrome  
Gitelman syndrome  
glucocorticoid deficiency 1  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
glutaric acidemia type 3  
glutathione synthetase deficiency of erythrocytes  
glutatione synthetase deficiency with 5-oxoprolinuria  
glycogen storage disease III +   
glycogen storage disease V  
glycogen storage disease XV  
GNE myopathy  
Goldberg-Shprintzen syndrome  
Gordon Holmes syndrome  
GRACILE syndrome  
gray platelet syndrome +   
Greenberg dysplasia  
Griscelli syndrome +   
growth hormone insensitivity syndrome with immune dysregulation 1  
Halperin-Birk Syndrome  
Harding Ataxia 
Harel-Yoon Syndrome  
Heimler syndrome 1  
Heimler syndrome 2  
HENGEL-MAROOFIAN-SCHOLS SYNDROME  
hepatic venoocclusive disease with immunodeficiency  
hereditary angioedema type I  
hereditary arterial and articular multiple calcification syndrome +   
hereditary folate malabsorption  
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 78  
hereditary spastic paraplegia 79  
hereditary spastic paraplegia 81  
hereditary spastic paraplegia 82  
hereditary spastic paraplegia 83  
hereditary spastic paraplegia 84  
hereditary spastic paraplegia 85  
hereditary spastic paraplegia 86  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Herrmann Syndrome 
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
histiocytosis-lymphadenopathy plus syndrome  
homocystinuria-megaloblastic anemia cblE type  
homocystinuria-megaloblastic anemia cblG type  
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
hydroxykynureninuria  
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hyperostosis Cranialis Interna  
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  
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 15  
Hypomyelinating Leukodystrophy 16  
Hypomyelinating Leukodystrophy 17  
Hypomyelinating Leukodystrophy 18  
Hypomyelinating Leukodystrophy 19  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 20  
Hypomyelinating Leukodystrophy 21  
Hypomyelinating Leukodystrophy 22  
Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy  
Hypomyelinating Leukodystrophy 24  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 6  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
IMAGAWA-MATSUMOTO SYNDROME  
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 12  
immunodeficiency 15B  
immunodeficiency 16  
immunodeficiency 17  
immunodeficiency 18  
immunodeficiency 19  
immunodeficiency 20  
immunodeficiency 22  
immunodeficiency 23  
immunodeficiency 24  
immunodeficiency 25  
immunodeficiency 26  
immunodeficiency 27A  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 30  
immunodeficiency 31B  
immunodeficiency 32B  
immunodeficiency 35  
immunodeficiency 37  
immunodeficiency 38  
immunodeficiency 40  
immunodeficiency 41  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 46  
immunodeficiency 48  
immunodeficiency 51  
immunodeficiency 52  
immunodeficiency 53  
immunodeficiency 54  
immunodeficiency 55  
immunodeficiency 56  
immunodeficiency 57  
immunodeficiency 58  
immunodeficiency 59  
immunodeficiency 61  
immunodeficiency 62  
immunodeficiency 63  
immunodeficiency 64  
immunodeficiency 65  
immunodeficiency 66  
immunodeficiency 69  
immunodeficiency 7  
immunodeficiency 71  
immunodeficiency 72  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
immunodeficiency 79  
immunodeficiency 9  
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 +   
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
infantile liver failure syndrome 1  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
intellectual developmental disorder with cardiac arrhythmia  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
intermediate spinal muscular atrophy  
isolated hyperchlorhidrosis  
isolated microphthalmia 1 
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
ITM2B-related cerebral amyloid angiopathy 2  
JABERI-ELAHI SYNDROME  
Jackson-Weiss syndrome  
Jalili syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
junctional epidermolysis bullosa Herlitz type +   
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Kaufman oculocerebrofacial syndrome  
Kaya-Barakat-Masson Syndrome  
Kenny-Caffey syndrome type 1  
keratosis pilaris atrophicans +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kohlschutter-Tonz syndrome  
Kufor-Rakeb syndrome  
Lafora disease  
Laron syndrome  
Larsen-like syndrome B3GAT3 type  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
late-adult onset retinitis pigmentosa 
Laurence-Moon syndrome  
learning disability +   
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  
LESSEL-KREIENKAMP SYNDROME  
lethal congenital contracture syndrome +   
Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leydig cell hypoplasia +   
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
lissencephaly 4  
lissencephaly 5  
lissencephaly 6  
lissencephaly 7 with cerebellar hypoplasia  
lissencephaly 8  
Lopes-Maciel-Rodan Syndrome  
LUO-SCHOCH-YAMAMOTO SYNDROME  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
Mahvash disease  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Martsolf syndrome  
McKusick-Kaufman syndrome  
Meckel syndrome 13  
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  
melorheostosis +   
methemoglobinemia and ambiguous genitalia  
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, seizures, and developmental delay  
microphthalmia with limb anomalies  
microvillus inclusion disease +   
Microvillus Inclusion Disease 2  
mismatch repair cancer syndrome +   
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 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 Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Mixed Sclerosing Bone Dystrophy 
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
mucolipidosis III alpha/beta +   
mucolipidosis III gamma  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
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 CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
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 type B1  
muscular dystrophy-dystroglycanopathy type B15  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B4  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
mutism  
Myelocerebellar Disorder  
Myoclonus, Cerebellar Ataxia, and Deafness 
myofibrillar myopathy 10  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
N-acetylglutamate synthase deficiency  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
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  
neonatal-onset type II citrullinemia  
nephrogenic diabetes insipidus type 2  
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 21  
nephrotic syndrome type 22  
nephrotic syndrome type 23  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Neuhauser Eichner Opitz Syndrome 
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 and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
neurogenic-type arthrogryposis multiplex congenita-2  
neuronal ceroid lipofuscinosis 1  
neuronal ceroid lipofuscinosis 10  
neuronal ceroid lipofuscinosis 11  
neuronal ceroid lipofuscinosis 13  
neuronal ceroid lipofuscinosis 2  
neuronal ceroid lipofuscinosis 3  
neuronal ceroid lipofuscinosis 5  
neuronal ceroid lipofuscinosis 6A  
neuronal ceroid lipofuscinosis 6B  
neuronal ceroid lipofuscinosis 7  
neuronal ceroid lipofuscinosis 8  
neuronal ceroid lipofuscinosis 8 northern epilepsy variant  
neuronal ceroid lipofuscinosis 9 
NEUROOCULAR SYNDROME  
Nezelof syndrome 
NGLY1-deficiency  
Nijmegen breakage syndrome +   
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9 
Noonan syndrome 2  
Norman-Roberts syndrome  
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
nuclear type mitochondrial complex I deficiency 11  
nuclear type mitochondrial complex I deficiency 13  
nuclear type mitochondrial complex I deficiency 14  
nuclear type mitochondrial complex I deficiency 15  
nuclear type mitochondrial complex I deficiency 16  
nuclear type mitochondrial complex I deficiency 17  
nuclear type mitochondrial complex I deficiency 18  
nuclear type mitochondrial complex I deficiency 19  
nuclear type mitochondrial complex I deficiency 2  
nuclear type mitochondrial complex I deficiency 20  
nuclear type mitochondrial complex I deficiency 21  
nuclear type mitochondrial complex I deficiency 22  
nuclear type mitochondrial complex I deficiency 23  
nuclear type mitochondrial complex I deficiency 24  
nuclear type mitochondrial complex I deficiency 25  
nuclear type mitochondrial complex I deficiency 26  
nuclear type mitochondrial complex I deficiency 27  
nuclear type mitochondrial complex I deficiency 28  
nuclear type mitochondrial complex I deficiency 29  
nuclear type mitochondrial complex I deficiency 3  
nuclear type mitochondrial complex I deficiency 31  
nuclear type mitochondrial complex I deficiency 32  
nuclear type mitochondrial complex I deficiency 33  
nuclear type mitochondrial complex I deficiency 34  
nuclear type mitochondrial complex I deficiency 35  
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
nuclear type mitochondrial complex I deficiency 6  
nuclear type mitochondrial complex I deficiency 7  
nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  
O'Donnell-Luria-Rodan Syndrome  
oculocutaneous albinism +   
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oguchi disease-1  
Oguchi disease-2  
Okur-Chung Neurodevelopmental Syndrome  
Oliver-McFarlane syndrome  
omodysplasia 1  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
optic disc anomalies with retinal and/or macular dystrophy  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
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 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 21  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteopathia striata with cranial sclerosis  
osteopetrosis +   
Osteopoikilosis +   
osteoporosis-pseudoglioma syndrome  
Osteosclerosis with Ichthyosis and Fractures 
osteosclerotic metaphyseal dysplasia  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
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  
Pelizaeus-Merzbacher disease +   
Pendred syndrome  
pentosuria  
permanent neonatal diabetes mellitus +   
peroxisome biogenesis disorder 2B  
Perrault syndrome +   
pervasive developmental disorder +   
PHARC syndrome  
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
Pierson syndrome  
Pilarowski-Bjornsson Syndrome  
Pitt-Hopkins-like syndrome 2  
plasminogen deficiency type I  
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 8  
poikiloderma with neutropenia  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
pontocerebellar hypoplasia type 11  
pontocerebellar hypoplasia type 12  
pontocerebellar hypoplasia type 13  
pontocerebellar hypoplasia type 14  
pontocerebellar hypoplasia type 15  
pontocerebellar hypoplasia type 16  
pontocerebellar hypoplasia type 1A  
pontocerebellar hypoplasia type 1B  
pontocerebellar hypoplasia type 1C  
pontocerebellar hypoplasia type 1D  
pontocerebellar hypoplasia type 1E  
pontocerebellar hypoplasia type 1F  
pontocerebellar hypoplasia type 2A  
pontocerebellar hypoplasia type 2B  
pontocerebellar hypoplasia type 2C  
pontocerebellar hypoplasia type 2D  
pontocerebellar hypoplasia type 2E  
pontocerebellar hypoplasia type 2F  
Popov-Chang Syndrome 
postaxial acrofacial dysostosis  
primary autosomal recessive microcephaly +   
primary ciliary dyskinesia 38  
primary ciliary dyskinesia 39  
primary ciliary dyskinesia 40  
primary ciliary dyskinesia 41  
primary ciliary dyskinesia 42  
primary ciliary dyskinesia 44  
primary ciliary dyskinesia 45  
primary coenzyme Q10 deficiency 9  
primary ovarian insufficiency 10  
primary ovarian insufficiency 12  
primary ovarian insufficiency 13  
primary ovarian insufficiency 14  
primary ovarian insufficiency 15  
primary ovarian insufficiency 18  
primary ovarian insufficiency 19  
primary ovarian insufficiency 8  
primary ovarian insufficiency 9  
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
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 myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
progressive pseudorheumatoid arthropathy of childhood  
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
proprotein convertase 1/3 deficiency  
prothrombin deficiency +   
prune belly syndrome +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
Pyknoachondrogenesis 
pyridoxine-dependent epilepsy  
pyruvate kinase deficiency of red cells  
Raine Syndrome  
rapadilino syndrome  
Reactive Attachment Disorder  
recessive dystrophic epidermolysis bullosa  
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
reticular dysgenesis  
retinal cone dystrophy 3B  
retinal dystrophy with leukodystrophy  
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 81  
retinitis pigmentosa 84  
retinitis pigmentosa 85  
retinitis pigmentosa 88  
retinitis pigmentosa 90  
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
RNASET2-deficient cystic leukoencephalopathy  
Roberts syndrome  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Ruijs-Aalfs syndrome  
Saldino-Noonan syndrome  
salt and pepper syndrome  
sarcosinemia  
Schimke immuno-osseous dysplasia  
Schindler disease +   
Schinzel type phocomelia  
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
separation anxiety disorder  
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 +   
severe congenital neutropenia 3  
severe congenital neutropenia 4 +   
severe congenital neutropenia 5  
severe congenital neutropenia 6  
severe congenital neutropenia 7  
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  
Shukla-Vernon syndrome  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia +   
Sjogren-Larsson syndrome +   
Skraban-Deardorff Syndrome  
SOST-related sclerosing bone dysplasia  
Sotos syndrome 3  
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 8  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
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 24  
spermatogenic failure 25  
spermatogenic failure 26  
spermatogenic failure 27  
spermatogenic failure 28  
spermatogenic failure 29  
spermatogenic failure 30  
spermatogenic failure 31  
spermatogenic failure 33  
spermatogenic failure 34  
spermatogenic failure 35  
spermatogenic failure 37  
spermatogenic failure 38  
spermatogenic failure 39  
spermatogenic failure 40  
spermatogenic failure 41  
spermatogenic failure 42  
spermatogenic failure 43  
spermatogenic failure 44  
spermatogenic failure 45  
spermatogenic failure 46  
spermatogenic failure 47  
spermatogenic failure 48  
spermatogenic failure 49  
spermatogenic failure 5  
spermatogenic failure 50  
spermatogenic failure 51  
spermatogenic failure 52  
spermatogenic failure 53  
spermatogenic failure 54  
spermatogenic failure 55  
spermatogenic failure 56  
spermatogenic failure 57  
spermatogenic failure 58  
spermatogenic failure 59  
spermatogenic failure 6  
spermatogenic failure 60  
spermatogenic failure 61  
spermatogenic failure 62  
spermatogenic failure 63  
spermatogenic failure 64  
spermatogenic failure 65  
spermatogenic failure 7  
spermatogenic failure 9  
spinal muscular atrophy with progressive myoclonic epilepsy  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondylocostal Dysostosis, Autosomal Recessive +   
spondyloepimetaphyseal dysplasia with joint laxity type 1  
spondyloepimetaphyseal dysplasia with joint laxity type 3  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepiphyseal dysplasia Kondo-Fu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
spondylometaphyseal dysplasia Sedaghatian type  
spondylometaphyseal dysplasia with cone-rod dystrophy  
spondylometaphyseal dysplasia with corneal dystrophy  
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic microphthalmia 9  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome +   
tetraamelia syndrome 1  
tetraamelia syndrome 2  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
thrombocytopenia-absent radius syndrome  
thyroid dyshormonogenesis 1  
thyroid dyshormonogenesis 2A  
thyroid dyshormonogenesis 3  
thyroid dyshormonogenesis 4  
thyroid dyshormonogenesis 5  
thyroid dyshormonogenesis 6  
tic disorder +   
torsion dystonia 17 
torsion dystonia 2  
transient bullous dermolysis of the newborn  
transient infantile liver failure  
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Tukel syndrome 
Ullrich congenital muscular dystrophy +   
urocanase deficiency  
urofacial syndrome +   
Usher syndrome +   
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
UV-sensitive syndrome +   
Van den Ende-Gupta syndrome  
Van Maldergem syndrome +   
Ventriculomegaly +   
ventriculomegaly - cystic kidney disease  
Vici syndrome  
visual impairment and progressive phthisis bulbi  
vitamin D-dependent rickets type 1A  
vitamin D-dependent rickets type 1B  
vitamin D-dependent rickets type 2A  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
Werner syndrome +   
WHITE-KERNOHAN SYNDROME  
Whyte Murphy Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Woodhouse-Sakati syndrome  
Worth syndrome  
wrinkly skin syndrome  
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: 4H leukodystrophy 2 ;   ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME ;   HLD8 ;   cerebellar hypoplasia with endosteal sclerosis ;   hypomyelinating leukodystrophy 8
Narrow Synonyms: hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism
Primary IDs: MESH:C535353
Alternate IDs: DOID:9003813 ;   OMIM:614381
Xrefs: NCI:C180850
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22036171 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22036172 "DO" "DO"

paths to the root