Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension

Preferred Label : Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 166990;

Details

Origin ID

166990;

UMLS CUI

C1833688;

Automatic exact mappings (from CISMeF team)
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH concept]
Currated CISMeF NLP mapping
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hydrocephalus [HPO term]
- Hypertension [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH Supplementary Concept]
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH concept]

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