Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHair Diseases (D006201)
Parent Node:
expandNails, Malformed (D009264)
Parent Node:
expandRetinitis Pigmentosa (D012174)
Parent Node:
expandSkin Diseases, Genetic (D012873)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandOculotrichodysplasia (C564934)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8197
Name:Oculotrichodysplasia
Definition:
Alternative IDs:
ParentIDs:MESH:D006201|MESH:D009264|MESH:D012174|MESH:D012873|MESH:D014071
TreeNumbers:C07.650.800/C564934 |C07.793.700/C564934 |C11.270.684/C564934 |C11.768.585.658.500/C564934 |C16.131.850.800/C564934 |C16.320.290.684/C564934 |C16.320.850/C564934 |C17.800.329/C564934 |C17.800.827/C564934 |C23.300.820/C564934
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C564934
MeSH: C564934
OMIM: 257960;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0006349Agenesis of permanent teeth
4 HP:0000670Carious teeth
5 HP:0000958Dry skin
6 HP:0001808Fragile nails
7 HP:0004528Generalized hypotrichosis
8 HP:0006347Microdontia of primary teeth
9 HP:0002164Nail dysplasia
10 HP:0000510Rod-cone dystrophy
11 HP:0040189Scaling skin
12 HP:0002215Sparse axillary hair
13 HP:0000653Sparse eyelashes
14 HP:0005338Sparse lateral eyebrow
15 HP:0002225Sparse pubic hair
16 HP:0002209Sparse scalp hair
17 HP:0002552Trichodysplasia
18 HP:0006313Widely spaced primary teeth
Disease Causing ClinVar Variants