Growth retardation, small and puffy hands and feet, and eczema

Preferred Label : Growth retardation, small and puffy hands and feet, and eczema;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 233810;

Details

Origin ID

233810;

UMLS CUI

C1856242;

Automatic exact mappings (from CISMeF team)
- Grubben-de Cock-Borghgraef syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- growth retardation, small and puffy hands and feet, and eczema [MeSH concept]
- growth retardation, small and puffy hands and feet, and eczema [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Eczema [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth retardation, prenatal and postnatal [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Microdontia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Postnatal growth retardation [HPO term]
- Psychomotor retardation [HPO term]
- Small, widely spaced teeth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Grubben-de Cock-Borghgraef syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- growth retardation, small and puffy hands and feet, and eczema [MeSH Supplementary Concept]
- growth retardation, small and puffy hands and feet, and eczema [MeSH concept]

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