Ontology Browser

Term:
Deafness Enamel Hypoplasia Nail Defects (DOID:9004220)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
ADULT syndrome  
Alopecia Universalis, Onychodystrophy, Vitiligo 
Amelogenesis Imperfecta Hypomaturation Type +   
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1E  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
Amelogenesis Imperfecta Type 1J  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
Amelogenesis Imperfecta Type 3C  
amelogenesis imperfecta type 4  
Ameloonychohypohidrotic Syndrome 
anonychia congenita +   
Anonychia Onychodystrophy 
Anonychia with Flexural Pigmentation 
Anonychia-Ectrodactyly 
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 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  
Basan Syndrome  
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Brown-Vialetto-Van Laere syndrome +   
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
CAPOS Syndrome  
Cartwright Nelson Fryns 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 
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Combined Pituitary Hormone Deficiency, 3  
Cone Rod Dystrophy Amelogenesis Imperfecta  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
Craniofacial Deafness Hand Syndrome  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
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  
Dermoodontodysplasia 
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Donnai-Barrow syndrome  
Double Nail for Fifth Toe 
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 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Gonadal Dysgenesis, XX Type, with Deafness +   
Gorlin Bushkell Jensen Syndrome 
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Hereditary Koilonychia 
HID Syndrome  
High-Frequency Hearing Loss  
Histiocytosis with Joint Contractures and Sensorineural Deafness  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
Hypospadias-Mental Retardation Syndrome 
Insulin-Like Growth Factor I Deficiency  
Jalili Syndrome  
Johanson-Blizzard syndrome  
Kohlschutter Tonz Syndrome  
Kumar Levick Syndrome 
Mammary-Digital-Nail Syndrome 
Marshall Syndrome +   
MYH-9 related disease +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
nonsyndromic congenital nail disorder 1 
nonsyndromic congenital nail disorder 10  
nonsyndromic congenital nail disorder 8  
nonsyndromic congenital nail disorder 9  
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Oculotrichodysplasia 
Onycholysis, Partial, with Scleronychia 
Onychotrichodysplasia and Neutropenia 
Optic Atrophy 1 and Deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia  
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Pili Torti Onychodysplasia 
Pinheiro Freire-Maia Miranda 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 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Santos Syndrome 
Schaap Taylor Baraitser Syndrome 
Schinzel-Giedion 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 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Steatocystoma Multiplex with Natal Teeth 
Sudden Hearing Loss  
Teebi Kaurah Syndrome 
Temple-Baraitser syndrome  
thiamine-responsive megaloblastic anemia syndrome  
Tonoki Syndrome 
tooth and nail syndrome  
Total Anonychia with Microcephaly 
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Usher syndrome +   
Vohwinkel Syndrome  
Wolfram syndrome 2  
Wolfram Syndrome, Mitochondrial Form 
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 +   
X-linked nonsyndromic deafness +   
yellow nail syndrome +  
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects ;   HEIMLER SYNDROME 1 ;   HMLR1 ;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects ;   Heimler syndrome ;   PBD1C ;   PEROXISOME BIOGENESIS DISORDER 1C ;   Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
Primary IDs: MESH:C535994 ;   RDO:0001393
Alternate IDs: OMIM:234580

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