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Term:
hypoparathyroidism-deafness-renal disease syndrome (DOID:0060878)
Annotations: Rat: (70) Mouse: (71) Human: (74) Chinchilla: (65) Bonobo: (68) Dog: (67) Squirrel: (66) Pig: (67)
Parent Terms Term With Siblings Child Terms
10p Deletion Syndrome (partial) 
16p11.2 Deletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3p- syndrome 
Acrootoocular Syndrome 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant hypocalcemia 1 +   
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CAPOS Syndrome  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth Disease and Deafness +   
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
chromosome 10q23 deletion syndrome  
Chromosome 11p Deletion Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 14q11-q22 deletion syndrome 
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 16p11.2 deletion syndrome, 220kb 
chromosome 16p12.1 deletion syndrome, 520kb 
chromosome 16p12.2-p11.2 deletion syndrome 
chromosome 16q22 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 17q12 deletion syndrome  
chromosome 17q23.1-q23.2 deletion syndrome 
chromosome 18p deletion syndrome 
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome 
chromosome 1p32-p31 deletion syndrome  
chromosome 1p36 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 1q41-q42 deletion syndrome +   
chromosome 22q11.2 deletion syndrome, distal  
chromosome 2p12-p11.2 deletion syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q13.31 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 4q21 deletion syndrome 
chromosome 5q12 deletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome 6q11-q14 deletion syndrome 
chromosome 6q24-q25 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
chromosome 9p deletion syndrome  
chromosome Xp21 deletion syndrome 
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
Craniofacial Deafness Hand Syndrome  
Cri-du-Chat syndrome +   
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Dahlberg Borer Newcomer Syndrome 
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
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  
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
distal 10q deletion syndrome 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Donnai-Barrow syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ermine Phenotype 
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Forsythe-Wakeling Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Galloway-Mowat syndrome +   
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Gonadal Dysgenesis, XX Type, with Deafness +   
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HID Syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hypoparathyroidism Familial Isolated  
Hypoparathyroidism, Autosomal Recessive  
Hypoparathyroidism, X-Linked 
hypoparathyroidism-deafness-renal disease syndrome  
A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
hypoparathyroidism-retardation-dysmorphism syndrome  
Insulin-Like Growth Factor I Deficiency  
Jacobsen Distal 11q Deletion Syndrome +  
Johanson-Blizzard syndrome  
Koolen de Vries syndrome  
lipoid nephrosis  
Marshall Syndrome +   
Miller-Dieker lissencephaly syndrome  
MYH-9 related disease +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Nephrosialidosis 
Nephrosis Deafness Urinary Tract Digital Malformation 
Nephrosis, Puromycin Aminonucleoside  
nephrotic syndrome +   
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Optic Atrophy 1 and Deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Pfeiffer Kapferer Syndrome 
Phelan-McDermid syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Potocki-Shaffer Syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pulmonic Stenosis and Congenital Nephrosis 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Schaap Taylor Baraitser 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 
Smith-Magenis syndrome +   
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Sudden Hearing Loss  
thiamine-responsive megaloblastic anemia syndrome  
thrombocytopenia-absent radius syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vohwinkel Syndrome  
WAGR syndrome +   
Williams-Beuren syndrome +   
Wolf-Hirschhorn syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   

Synonyms
Exact Synonyms: Barakat syndrome ;   HDR ;   HDR syndrome ;   HDRS ;   HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME ;   hypoparathyroidism, sensorineural deafness, and renal disease ;   nephrosis, nerve deafness, and hypoparathyroidism
Primary IDs: MESH:C537907
Alternate IDs: OMIM:146255 ;   RDO:0003822
Xrefs: NCI:C130983 ;   ORDO:2237
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10935639, https://www.ncbi.nlm.nih.gov/pubmed/874665

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