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Ontology Browser

Term:
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (DOID:9005739)
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Parent Terms Term With Siblings Child Terms
Deafness +     
Hypertelorism +     
polydactyly +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
Acrootoocular Syndrome 
Al Gazali Hirschsprung Syndrome 
Albinism Deafness Syndrome 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
asphyxiating thoracic dystrophy +   
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Bagatelle Cassidy syndrome 
Barber-Say syndrome  
Biemond Syndrome II 
Brachycephalofrontonasal Dysplasia  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Branchiogenic-Deafness Syndrome 
Bresheck/Bresek Syndrome 
Burn-Mckeown Syndrome  
Camptodactyly Syndrome, Guadalajara, Type II 
Camptodactyly Syndrome, Guadalajara, Type III 
Cardioauditory Syndrome of Sanchez Cascos 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CHITAYAT SYNDROME  
chromosome 6pter-p24 deletion syndrome 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
Coxoauricular Syndrome 
Crossed Polydactyly, Type I  
Crossed Polysyndactyly 
Culler-Jones syndrome  
Davenport Donlan Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
Desbuquois dysplasia +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Fine-Lubinsky Syndrome 
Fountain Syndrome 
Frontonasal Dysplasia 1  
Frontonasal Dysplasia 2  
Frontonasal Dysplasia 3  
Garret Tripp Syndrome 
Gastrocutaneous Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Goldberg-Shprintzen syndrome  
Hamamy Syndrome  
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease 1  
Hirschsprung Disease Ganglioneuroblastoma  
Hirschsprung Disease Polydactyly Heart Disease 
Hirschsprung Disease Type 3 
Hirschsprung Disease Type d Brachydactyly 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  
holoprosencephaly 9  
hydrolethalus syndrome +   
Hyperlipoproteinemia Type II, and Deafness 
Hyperphosphatasia with Mental Retardation Syndrome 1  
Hypertelorism and Tetralogy of Fallot 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypoplasia of Tibia with Polydactyly  
hypoplastic or aplastic tibia with polydactyly  
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Ichthyosiform Erythroderma, Corneal Involvement, Deafness  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert Syndrome  
Konigsmark Knox Hussels Syndrome 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Laurence Prosser Rocker Syndrome 
Liver Fibrocystic Disease and Polydactyly 
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
McKusick-Kaufman syndrome  
Meckel syndrome 13  
Meckel syndrome 4  
Meckel-Like Cerebrorenodigital Syndrome 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Mexican Cardiomelic Dysplasia 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Multiple Synostoses Syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Naguib-Richieri-Costa Syndrome 
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Oliver Syndrome 
Opitz-GBBB syndrome +   
Opticocochleodentate Degeneration 
Pallister-Hall syndrome +   
PCWH syndrome  
Perrault syndrome +   
Pfeiffer Mayer Syndrome 
Polydactyly Myopia Syndrome 
Postaxial Polydactyly +   
Preaxial Polydactyly +   
Pseudotrisomy 13 Syndrome 
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Roberts syndrome  
Santos Mateus Leal Syndrome 
Santos Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Schwartz-Lelek Syndrome  
Seaver Cassidy Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
SIDDIQI SYNDROME  
Sinoatrial Node Dysfunction and Deafness  
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY  
Syndactyly, Type IV  
Syndactyly-Polydactyly-Earlobe Syndrome 
Synpolydactyly 2  
Synpolydactyly 3 
Synpolydactyly with Foot Anomalies  
temtamy preaxial brachydactyly syndrome  
Thai Symphalangism Syndrome 
Tibia Absent Polydactyly Arachnoid Cyst 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tietz syndrome  
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  
Total Intestinal Aganglionosis  
Urioste Martinez-Frias Syndrome 
Waardenburg Syndrome Type 4 +   
Wells Jankovic Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Y-Linked Deafness +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Primary IDs: MESH:C565518 ;   RDO:0014131

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