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Term:
split hand-foot malformation 1 with sensorineural hearing loss (DOID:0090024)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
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 +   
Aarskog syndrome +   
ABCD syndrome  
abetalipoproteinemia +   
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
Acrootoocular Syndrome 
acrorenal syndrome +  
adult spinal muscular atrophy  
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
alopecia universalis +   
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  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Antley-Bixler syndrome +   
ARC syndrome +   
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrichia with papular lesions  
Auditory Neuropathy, Nonsyndromic Recessive 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
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 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 spinocerebellar ataxia 19  
autosomal recessive type IV Ehlers-Danlos syndrome 
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Banki Syndrome 
Bardet-Biedl syndrome +   
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
brachydactyly type E1  
brachydactyly type E2  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachyolmia-amelogenesis imperfecta syndrome  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
branched-chain keto acid dehydrogenase kinase deficiency  
Brown-Vialetto-Van Laere syndrome +   
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
Canavan disease  
CAPOS Syndrome  
Carnevale Hernandez Castillo Syndrome 
cartilage-hair hypoplasia  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth Disease and Deafness +   
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2J  
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 X-linked recessive 4  
Charcot-Marie-Tooth Disease, Foot Deformity of 
Chediak-Higashi syndrome +   
Chitayat Meunier Hodgkinson Syndrome 
Chitty Hall Baraitser Syndrome 
choreaacanthocytosis  
Chudley-Mccullough syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
combined malonic and methylmalonic acidemia  
Combined Pituitary Hormone Deficiency, 3  
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
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 Ectodermal Dysplasia with Hearing Loss 
congenital generalized lipodystrophy +   
congenital generalized lipodystrophy type 4  
congenital hereditary endothelial dystrophy of cornea  
congenital hypotrichosis with juvenile macular dystrophy  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
cortical dysplasia-focal epilepsy syndrome  
cortisone reductase deficiency 1  
Cranioacrofacial Syndrome 
craniofacial-deafness-hand syndrome  
craniolenticulosutural dysplasia  
Craniosynostosis, Adelaide Type 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
cystathioninuria  
cystic fibrosis +   
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
Daneman Davy Mancer Syndrome 
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
diastrophic dysplasia +   
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Distal Symphalangism +   
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dyggve-Melchior-Clausen disease +   
Dystelephalangy 
dystonia 16  
dystonia 27  
dystonia 5  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Ehlers-Danlos syndrome progeroid type +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Ermine Phenotype 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
factor XII deficiency  
Fairbank Disease 
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
Femur Bifid with Monodactylous Ectrodactyly 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Fraser syndrome +   
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
fumarase deficiency  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
Gonadal Dysgenesis, XX Type, with Deafness +   
Goodman Camptodactyly 
Gordon Syndrome  
Griscelli syndrome +   
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hermansky-Pudlak syndrome +   
HID Syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Homozygous 11p15-p14 Deletion Syndrome 
hydrolethalus syndrome +   
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-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 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 +   
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Insulin-Like Growth Factor I Deficiency  
intermediate spinal muscular atrophy  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kufor-Rakeb syndrome  
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Laurence-Moon syndrome  
Laurin-Sandrow 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  
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
McKusick-Kaufman syndrome  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey 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 with Mental Retardation and Digital Anomalies  
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
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  
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mucosulfatidosis  
mulibrey nanism  
Muller Barth Menger Syndrome 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
MYH-9 related disease +   
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NGLY1-deficiency  
Nicolaides Baraitser Syndrome  
Nijmegen breakage syndrome +   
nonphotosensitive trichothiodystrophy +   
Nonsyndromic Sensorineural Hearing Loss  
Noonan syndrome 2  
Norman-Roberts syndrome  
ocular albinism with sensorineural deafness  
oculocutaneous albinism +   
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome V  
Oslam syndrome 
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoporosis-pseudoglioma syndrome  
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Palmoplantar Keratoderma with Deafness  
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
Paragangliomas with Sensorineural Hearing Loss  
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  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pendred syndrome  
pentosuria  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
Pfeiffer Kapferer Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
Pierson syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Pitt-Hopkins-like syndrome 2  
poikiloderma with neutropenia  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
postaxial acrofacial dysostosis  
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
primary autosomal recessive microcephaly +   
progeria +   
Progeroid Facial Appearance with Hand Anomalies 
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 Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
progressive pseudorheumatoid arthropathy of childhood  
prothrombin deficiency +   
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pseudo-TORCH syndrome 1  
Pseudotrisomy 13 Syndrome 
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyruvate kinase deficiency of red cells  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
rapadilino syndrome  
Ray Peterson Scott Syndrome 
recessive dystrophic epidermolysis bullosa  
reticular dysgenesis  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Rozin Hertz Goodman Syndrome 
Ruijs-Aalfs syndrome  
Saal Bulas Syndrome 
salt and pepper syndrome  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
SC phocomelia syndrome  
Schaap Taylor Baraitser Syndrome 
Schimke immuno-osseous dysplasia  
Schinzel-Giedion Syndrome  
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Second Metatarsal-Metacarpal Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
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  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia  
Sjogren-Larsson syndrome +   
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)
split hand-foot malformation 2 
split hand-foot malformation 3  
split hand-foot malformation 4  
split hand-foot malformation 5 
split hand-foot malformation 6  
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY  
Split-Hand and Split-Foot With Hypodontia 
Split-Hand-Foot Malformation with Long Bone Deficiency 1 
Split-Hand/Foot Malformation with Long Bone Deficiency 2 
Split-Hand/Foot Malformation with Long Bone Deficiency 3 
SPOAN syndrome  
Spondylocamptodactyly 
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Stoll Alembik Dott Syndrome 
Sudden Hearing Loss  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
temtamy preaxial brachydactyly syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Tollner Horst Manzke Syndrome 
torsion dystonia 17 
torsion dystonia 2  
Townes-Brocks syndrome +   
transient bullous demolysis of the newborn  
Treft Sanborn Carey Syndrome 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
trimethylaminuria  
Triphalangeal Thumb +   
triple-A syndrome  
Troyer syndrome  
Tukel Syndrome 
Tunglang Savage Bellman Syndrome 
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vertical Talus, Congenital  
Vici syndrome  
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
Weaver syndrome  
Werner syndrome +   
Weyers Ulnar Ray/Oligodactyly Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: SHFM1D ;   SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE ;   congenital deafness and split hands and feet ;   congenital deafness with split hands and feet
Primary IDs: MESH:C565647
Alternate IDs: OMIM:220600 ;   RDO:0014230
Xrefs: ORDO:71271
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22121204

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