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Ontology Browser

Term:
hereditary spastic paraplegia 23 (DOID:0110774)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Facies +     
vitiligo +     
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 +  
adult spinal muscular atrophy  
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alkuraya-Kucinskas syndrome  
alopecia universalis +   
Alopecia Universalis, Onychodystrophy, Vitiligo 
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
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  
Amyotrophic Dystonic Paraplegia 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
Antley-Bixler syndrome +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
ARC syndrome +   
Arena Syndrome 
arrhythmogenic right ventricular dysplasia 11  
asphyxiating thoracic dystrophy +   
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant mental retardation 49  
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 nystagmus 
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 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Bahemuka Brown syndrome 
Baraitser-Winter syndrome +   
Bardet-Biedl syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Behr syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloom syndrome  
Boomerang dysplasia  
Boucher-Neuhauser syndrome  
Bowen Syndrome 
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachyolmia-amelogenesis imperfecta syndrome  
Brachytelephalangy Characteristic Facies Kallmann 
branched-chain keto acid dehydrogenase kinase deficiency  
Brown-Vialetto-Van Laere syndrome +   
Brunoni Syndrome 
Burn-Mckeown Syndrome  
C syndrome  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
cardiofaciocutaneous syndrome +   
carnitine-acylcarnitine translocase deficiency  
cartilage-hair hypoplasia  
cataract 48  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK 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  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chediak-Higashi syndrome +   
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
choreaacanthocytosis  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
Coffin-Siris syndrome +   
Cohen syndrome  
cold-induced sweating syndrome +   
combined D-2- and L-2-hydroxyglutaric aciduria  
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 5  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
Combined Pituitary Hormone Deficiency, 1  
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
Congenital Deafness, with Vitiligo and Achalasia 
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
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 generalized lipodystrophy +   
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
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 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  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency 1  
craniolenticulosutural dysplasia  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
cystathioninuria  
cystic fibrosis +   
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
diastrophic dysplasia +   
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
distal arthrogryposis type 5D  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Dubowitz syndrome  
Dyggve-Melchior-Clausen disease +   
dystonia 16  
dystonia 27  
dystonia 5  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
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 Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
ectopia lentis with ectopia of pupil  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Ehlers-Danlos syndrome progeroid type +   
Eiken syndrome  
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
factor XII 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 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  
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  
Feingold Trainer Syndrome 
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fibrochondrogenesis +   
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-Guilbert Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Frank-Ter Haar syndrome  
Fraser syndrome +   
Fryns Macrocephaly 
Fryns Syndrome 
Fuhrmann syndrome  
fumarase deficiency  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
geleophysic dysplasia +   
geleophysic dysplasia 1  
geroderma osteodysplasticum  
Giacheti Syndrome 
giant axonal neuropathy 1  
Gingival Fibromatosis with Distinctive Facies 
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
glucocorticoid deficiency 1  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gordon Holmes syndrome  
GRACILE syndrome  
Granddad Syndrome 
Greenberg dysplasia  
Griscelli syndrome +   
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
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 Paralysis, Infantile Onset Ascending  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 23  
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 34 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
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 6  
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 73  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 8  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
histiocytosis-lymphadenopathy plus syndrome  
Holoprosencephaly 10 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
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  
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 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  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia 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 cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
intermediate spinal muscular atrophy  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated hyperchlorhidrosis  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
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  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kohlschutter-Tonz syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kufor-Rakeb syndrome  
Lafora disease  
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
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  
Leri Pleonosteosis 
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Lichtenstein Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Martsolf syndrome  
MASA syndrome  
MAST syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens 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  
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
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 Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
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  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
Mowat-Wilson syndrome  
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 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  
Multiple Pterygium Syndrome, X-Linked 
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
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  
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 cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NF1 Microduplication Syndrome 
NGLY1-deficiency  
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen breakage syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonphotosensitive trichothiodystrophy +   
Noonan syndrome 2  
Norman-Roberts syndrome  
oculocutaneous albinism +   
Oculoskeletodental Syndrome  
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
Omodysplasia 2  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
optic disc anomalies with retinal and/or macular dystrophy  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 14 
orofacial cleft 7 +   
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 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
Osteolysis Syndrome, Recessive 
osteoporosis-pseudoglioma syndrome  
Otoonychoperoneal Syndrome 
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Palant Cleft Palate Syndrome 
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  
Partington Anderson Syndrome 
Pendred syndrome  
pentosuria  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
peroxisome biogenesis disorder 2B  
Perrault syndrome +   
Pfeiffer Palm Teller Syndrome 
PHARC syndrome  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierson syndrome  
Pitt-Hopkins-like syndrome 2  
plasminogen deficiency type I  
poikiloderma with neutropenia  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
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  
Progeroid Facial Appearance with Hand Anomalies 
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  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
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  
pyruvate kinase deficiency of red cells  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
recessive dystrophic epidermolysis bullosa  
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
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  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Roy Maroteaux Kremp Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Syndrome 
salt and pepper syndrome  
SC phocomelia syndrome  
Schimke immuno-osseous dysplasia  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Seckel syndrome 1  
Seckel Syndrome 3 
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  
Severe Growth Restriction with Distinctive Facies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia +   
Sjogren-Larsson syndrome +   
Snijders Blok-Campeau Syndrome  
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spastic ataxia 1  
spastic ataxia 2  
spastic ataxia 3  
Spastic Diplegia Infantile Type 
Spastic Paraplegia 78, Autosomal Recessive  
Spastic Paraplegia 79, Autosomal Recessive  
Spastic Paraplegia 80, Autosomal Dominant  
Spastic Paraplegia 81, Autosomal Recessive  
Spastic Paraplegia 82, Autosomal Recessive  
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia Neuropathy Poikiloderma 
Spastic Paraplegia Type 5B, Recessive 
Spastic Paraplegia with Associated Extrapyramidal Signs 
Spastic Paraplegia with Kallmann Syndrome 
Spastic Paraplegia with Myoclonic Epilepsy 
Spastic Paraplegia with Precocious Puberty 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Optic Atrophy, and Dementia 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
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  
spinal muscular atrophy with progressive myoclonic epilepsy  
Spinocerebellar Ataxia with Dysmorphism 
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic microphthalmia 9  
syndromic X-linked intellectual disability Turner type  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Thakker Donnai Syndrome 
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
torsion dystonia 17 
torsion dystonia 2  
transient bullous dermolysis of the newborn  
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Turnpenny-Fry Syndrome  
Ullrich congenital muscular dystrophy +   
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
Van den Ende-Gupta syndrome  
Van Maldergem syndrome +   
ventriculomegaly - cystic kidney disease  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
Vici syndrome  
visual impairment and progressive phthisis bulbi  
Volcke Soekarman Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
Werner syndrome +   
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: Abdallat Davis Farrage syndrome ;   Abdallat syndrome ;   Lison syndrome ;   SPG23 ;   Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome ;   spastic paraparesis, vitiligo, premature graying, characteristic facies ;   spastic paraplegia 23 ;   spastic paraplegia and pigmentary abnormalities ;   spastic paraplegia with pigmentary abnormalities ;   spastic paraplegia, vitiligo, premature graying and characteristic facies
Primary IDs: MESH:C536859
Alternate IDs: OMIM:270750 ;   RDO:0002572
Xrefs: GARD:336 ;   ORDO:101003
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14681889

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