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:
expandEctodermal Dysplasia (D004476)
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)

       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:8209
Name:Odontotrichoungual-Digital-Palmar Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D004476|MESH:D005532|MESH:D006228|MESH:D014071
TreeNumbers:C05.330.495/C566598 |C05.390.408/C566598 |C05.660.585.512.380/C566598 |C05.660.585.988.425/C566598 |C07.650.800/C566598 |C07.793.700/C566598 |C16.131.077.350/C566598 |C16.131.621.585.380/C566598 |C16.131.621.585.425/C566598 |C16.131.831.350/C566598 |C16.131.850.80
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease
Reference: MedGen: C566598
MeSH: C566598
OMIM: 601957;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0010719Abnormality of hair texture
3 HP:0001156Brachydactyly
4 HP:0000689Dental malocclusion
5 HP:0001010Hypopigmentation of the skin
6 HP:0000303Mandibular prognathia
7 HP:0002164Nail dysplasia
8 HP:0008404Nail dystrophy
9 HP:0000695Natal tooth
10 HP:0006189Prominent interdigital folds
11 HP:0010034Short 1st metacarpal
12 HP:0009882Short distal phalanx of finger
13 HP:0001857Short distal phalanx of toe
14 HP:0010105Short first metatarsal
15 HP:0000954Single transverse palmar crease
16 HP:0012471Thick vermilion border
Disease Causing ClinVar Variants