holoprosencephaly 10

Preferred Label : holoprosencephaly 10;

MeSH synonym : holoprosencephaly with microphthalmia and first branchial arch anomalies;

Origin ID

C567278;

UMLS CUI

C2675857;

Automatic exact mappings (from CISMeF team)
- Chromosome 1q41-q42 deletion syndrome [OMIM Phenotype]
- Holoprosencephaly 9 [OMIM Phenotype]
- holoprosencephaly 9 [DO Concept]
MeSH term(s) associated for indexing
- branchial region [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 1 [MeSH Descriptor]
- facies [MeSH Descriptor]
- holoprosencephaly [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- holoprosencephaly 10 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1q41q42 microdeletion syndrome [ORDO Disease]
- Chromosome 1q41-q42 deletion syndrome [OMIM Phenotype]
- chromosome 1q41-q42 deletion syndrome [DO Concept]