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Ontology Browser

Term:
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly (DOID:9007968)
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Parent Terms Term With Siblings Child Terms
alopecia +     
Facies +     
Adams-Oliver syndrome +   
ADULT syndrome  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
alopecia areata +   
Alopecia Congenita Keratosis Palmoplantaris +   
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Hypogonadism, Extrapyramidal Disorder  
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
alopecia-mental retardation syndrome +   
Alves Castelo dos Santos Syndrome 
Anal Sphincter Dysplasia 
Androgenetic Alopecia 2 
Androgenetic Alopecia 3 
androgenic alopecia 
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 
atrichia with papular lesions  
autosomal dominant mental retardation 49  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Baraitser-Winter syndrome +   
Basan Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachytelephalangy Characteristic Facies Kallmann 
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
C syndrome  
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
cardiofaciocutaneous syndrome +   
cartilage-hair hypoplasia  
Central Centrifugal Cicatricial Alopecia  
Cerebellar Ataxia Ectodermal Dysplasia 
Cerebellofaciodental Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication 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  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
Congenital Alopecia X-Linked 
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 +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
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 
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Dubowitz 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 +   
Euhidrotic Ectodermal Dysplasia 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Familial Focal Alopecia 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
focal dermal hypoplasia +   
Follicular Hamartoma, Alopecia, Cystic Fibrosis 
follicular mucinosis 
Freire-Maia Odontotrichomelic Syndrome 
Frontonasal Dysplasia 2  
Fryns Macrocephaly 
Fryns Syndrome 
Garret Tripp Syndrome 
geleophysic dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Setton Wang Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hay Wells Syndrome Recessive Type 
hereditary spastic paraplegia 23  
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
Holoprosencephaly 10 
Hypergonadotropic Hypogonadism and Partial Alopecia 
hypohidrotic ectodermal dysplasia +   
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis 7  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
ichthyosis follicularis-alopecia-photophobia syndrome  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
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 
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Johnson Neuroectodermal Syndrome 
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Larsen-Like Syndromes +   
Lelis Syndrome 
Leri Pleonosteosis 
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
loose anagen hair syndrome +   
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
mandibulofacial dysostosis with alopecia  
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 Sparse Hair Mental Retardation Seizures 
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 
Moloney Syndrome 
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Naegeli-Franceschetti-Jadassohn syndrome  
NEMO Mutation with Immunodeficiency 
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  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nisch syndrome  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonsyndromic aplasia cutis congenita  
oculoectodermal syndrome  
Oculoskeletodental Syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Omodysplasia 2  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
Osteolysis Syndrome, Recessive 
Otoonychoperoneal Syndrome 
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 
Papillon-Lefevre disease +   
PARC Syndrome 
Partington Anderson Syndrome 
Patel Bixler Syndrome 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Perniola Krajewska Carnevale Syndrome 
Pfeiffer Palm Teller Syndrome 
Photosensitive Trichothiodystrophy 1  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pinheiro Freire-Maia Miranda Syndrome 
Preaxial Hallucal Polydactyly 
Preaxial Polydactyly I  
Preaxial Polydactyly II  
Preaxial Polydactyly III 
Preaxial Polydactyly IV  
Progeroid Facial Appearance with Hand Anomalies 
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 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinson Miller Bensimon Syndrome 
Roifman-Chitayat Syndrome 
Rosselli-Gulienetti Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Satoyoshi Syndrome 
scalp-ear-nipple syndrome  
Scholte Syndrome 
Schopf-Schulz-Passarge syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Sener Syndrome 
Sensenbrenner syndrome +   
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 
Slti Salem Syndrome 
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
syndromic X-linked intellectual disability Turner type  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Taurodontia Absent Teeth Sparse Hair 
telogen effluvium 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Deformity and Alopecia 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Turnpenny-Fry Syndrome  
Urban Schosser Spohn Syndrome 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Woodhouse-Sakati Syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Yunis-Varon syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance
Primary IDs: MESH:C538016
Alternate IDs: RDO:0003951

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