Short-rib thoracic dysplasia 7 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 7 with or without polydactyly;

Symbol : SRTD7;

CISMeF acronym : SRPS5; SRTD7; SRTD7/20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short rib-polydactyly syndrome, type V; SRPS5;

Included titles and symbols : Short-rib thoracic dysplasia 7/20 with polydactyly, digenic; SRTD7/20;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-35 gene (WDR35, 613602.0005);

Prefixed ID : #614091;

Détails

Origin ID

614091;

UMLS CUI

C3279792;

Automatic exact mappings (from CISMeF team)
- Short rib polydactyly syndrome type V (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome type 5 [ORDO Disease]
Currated CISMeF NLP mapping
- short-rib thoracic dysplasia 7 with or without polydactyly [DO Concept]
DO Cross reference
- short-rib thoracic dysplasia 7 with or without polydactyly [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 35 [OMIM gene]
HPO term(s)
- Agenesis of permanent teeth [HPO term]
- Aplasia/Hypoplasia of the eyebrow [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Cystic hygroma [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Fine hair [HPO term]
- Flat acetabular roof [HPO term]
- Fused teeth [HPO term]
- Hepatic fibrosis [HPO term]
- High palate [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypospadias [HPO term]
- Mesomelia [HPO term]
- Microdontia [HPO term]
- Micromelia [HPO term]
- Nail dysplasia [HPO term]
- Narrow chest [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Short distal phalanx of finger [HPO term]
- Short lingual frenulum [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Short uvula [HPO term]
- Sparse hair [HPO term]
- Syndactyly [HPO term]
- Thoracic dysplasia [HPO term]
ORDO concept(s)
- Short rib-polydactyly syndrome type 5 [ORDO Disease]
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- short-rib thoracic dysplasia 7 with or without polydactyly [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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