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Term:
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features (DOID:9003224)
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Parent Terms Term With Siblings Child Terms
Facies +     
Acrootoocular Syndrome 
Adams-Oliver syndrome +   
ADULT syndrome  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alves Castelo dos Santos Syndrome 
aminoglycoside-induced deafness  
Anal Sphincter Dysplasia 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant mental retardation 49  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
BADS syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Basan Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bjornstad syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachytelephalangy Characteristic Facies Kallmann 
Bresheck/Bresek Syndrome 
Brown-Vialetto-Van Laere syndrome +   
Brunoni Syndrome 
Burn-Mckeown Syndrome  
C syndrome  
CAPOS Syndrome  
cardiofaciocutaneous syndrome +   
cartilage-hair hypoplasia  
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 
Cerebellar Ataxia Ectodermal Dysplasia 
Cerebellofaciodental Syndrome  
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chitty Hall Baraitser Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Chudley-Mccullough syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Clouston syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness with Total Albinism 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
corneal dystrophy-perceptive deafness syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical deafness +   
craniofacial-deafness-hand syndrome  
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 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness Oligodontia Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, High-Frequency Sensorineural, X-Linked 
Deafness, Progressive High-Tone Neural 
Deafness-Craniofacial Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
dilated cardiomyopathy 1J  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
distal arthrogryposis type 6 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
Dubowitz syndrome  
EAST syndrome  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 8 
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
Ectrodactyly Cardiopathy Dysmorphism 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ellis-Van Creveld syndrome +   
Ermine Phenotype 
Euhidrotic Ectodermal Dysplasia 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
focal dermal hypoplasia +   
Freire-Maia Odontotrichomelic Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Fryns Macrocephaly 
Fryns Syndrome 
geleophysic dysplasia +   
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gonadal Dysgenesis, XX Type, with Deafness +   
Granddad Syndrome 
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 
Halal Setton Wang Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hay Wells Syndrome Recessive Type 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heimler syndrome 1  
hereditary spastic paraplegia 23  
HID Syndrome  
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly 10 
Homozygous 11p15-p14 Deletion Syndrome 
hypohidrotic ectodermal dysplasia +   
hypoparathyroidism-deafness-renal disease syndrome  
Hypotonia, Seizures, and Precocious Puberty 
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
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 Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Ladda Zonana Ramer syndrome 
Larsen-Like Syndromes +   
Lelis Syndrome 
Leri Pleonosteosis 
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
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  
Marshall syndrome +   
McDonough Syndrome 
McPherson Clemens Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
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  
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 
Mid-Tone Neural Deafness 
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
MYH-9 related disease +   
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Naegeli-Franceschetti-Jadassohn syndrome  
NEMO Mutation with Immunodeficiency 
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neurocutaneous Syndromes +   
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 Structural Brain Anomalies and Dysmorphic Facies  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonsyndromic aplasia cutis congenita  
Nonsyndromic Sensorineural Hearing Loss +   
ocular albinism with sensorineural deafness  
oculoectodermal syndrome  
Oculoskeletodental Syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Omodysplasia 2  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
Osteolysis Syndrome, Recessive 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
palmoplantar keratoderma-deafness syndrome  
Papillon-Lefevre disease +   
Paragangliomas with Sensorineural Hearing Loss  
Partington Anderson Syndrome 
Pendred syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Kapferer Syndrome 
Pfeiffer Palm Teller Syndrome 
Photosensitive Trichothiodystrophy 1  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pigmentary Retinopathy and Sensorineural Deafness  
Pinheiro Freire-Maia Miranda Syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progeroid Facial Appearance with Hand Anomalies 
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pure hair and nail ectodermal dysplasia +   
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Retinitis Pigmentosa Inversa with Deafness 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman-Chitayat Syndrome 
Rosselli-Gulienetti Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
scalp-ear-nipple syndrome  
Schaap Taylor Baraitser Syndrome 
Schopf-Schulz-Passarge syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Sener 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 Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Seres-Santamaria Arimany Muniz Syndrome 
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 
Snijders Blok-Campeau Syndrome  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spinocerebellar Ataxia with Dysmorphism 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Sudden Hearing Loss  
syndromic X-linked intellectual disability Turner type  
Taurodontia Absent Teeth Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thakker Donnai Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Tunglang Savage Bellman Syndrome 
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
Vohwinkel syndrome  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   
Yunis-Varon syndrome  
Zechi-Ceide Syndrome 

Synonyms
Primary IDs: MESH:C536182 ;   RDO:0001660

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