Short-rib thoracic dysplasia 5 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 5 with or without polydactyly;

Symbol : SRTD5;

CISMeF acronym : ATD5; SRTD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asphyxiating thoracic dystrophy 5; ATD5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-19 gene (WDR19, 608151.0003);

Prefixed ID : #614376;

Details

Origin ID

614376;

UMLS CUI

C3280598;

Currated CISMeF NLP mapping
- asphyxiating thoracic dystrophy 5 [DO Concept]
DO Cross reference
- asphyxiating thoracic dystrophy 5 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 19 [OMIM gene]
HPO term(s)
- Acetabular spurs [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad long bone diaphyses [HPO term]
- Cataract [HPO term]
- Chronic tubulointerstitial nephritis [HPO term]
- Congenital onset [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Full cheeks [HPO term]
- Glomerulonephritis [HPO term]
- Hepatomegaly [HPO term]
- Inguinal hernia [HPO term]
- Metaphyseal widening [HPO term]
- Myopia [HPO term]
- Narrow chest [HPO term]
- Pes valgus [HPO term]
- Proteinuria [HPO term]
- Renal hypoplasia [HPO term]
- Restrictive ventilatory defect [HPO term]
- Rhizomelia [HPO term]
- Short foot [HPO term]
- Short iliac bones [HPO term]
- Short stature [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Supernumerary nipple [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracic dysplasia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Jeune syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- asphyxiating thoracic dystrophy 5 [DO Concept]

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