Microcephaly-Capillary Malformation Syndrome

Preferred Label : Microcephaly-Capillary Malformation Syndrome;

NCIt synonyms : MICCAP;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.;

Details

Origin ID

C192098;

UMLS CUI

C3280296;

Currated CISMeF NLP mapping
- Microcephaly-capillary malformation syndrome [ORDO Disease]
- Microcephaly-capillary malformation syndrome [OMIM Phenotype]
- Microcephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly-capillary malformation syndrome [OMIM Phenotype]
- Microcephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- STAMBP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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