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:
expandOsteochondrodysplasias (D010009)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)

       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:10588
Name:Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Definition:
Alternative IDs:
ParentIDs:MESH:D010009|MESH:D014071
TreeNumbers:C05.116.099.708/C566644 |C07.650.800/C566644 |C07.793.700/C566644 |C16.131.850.800/C566644
Synonyms:SEMDAD
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C566644
MeSH: C566644
OMIM: 601668;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000707Abnormality of the nervous system
3 HP:0000951Abnormality of the skin
4 HP:0000592Blue sclerae
5 HP:0006429Broad femoral neck
6 HP:0006339Conical mandibular incisor
7 HP:0006290Discolored lateral incisors
8 HP:0003015Flared metaphysis
9 HP:0003071Flattened epiphysis
10 HP:0002857Genu valgum
11 HP:0003301Irregular vertebral endplates
12 HP:0009183Joint contracture of the 5th finger
13 HP:0003025Metaphyseal irregularity
14 HP:0002868Narrow iliac wing
15 HP:0000677Oligodontia
16 HP:0000926Platyspondyly
17 HP:0003508Proportionate short stature
18 HP:0010584Pseudoepiphyses
19 HP:0100864Short femoral neck
20 HP:0001238Slender finger
21 HP:0010585Small epiphyses
22 HP:0002651Spondyloepimetaphyseal dysplasia
23 HP:0001182Tapered finger
24 HP:0006304Widely-spaced incisors
Disease Causing ClinVar Variants