holoprosencephaly

Term ID

DOID:4621

Synonyms

Holoprosencephaly sequence

Definition

A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (2)

References

GARD:6665
ICD10CM:Q04.2
MESH:D016142
MIM:PS236100
NCI:C74988
ORDO:2162
SNOMEDCT_US_2023_03_01:30915001
UMLS_CUI:C0079541

(all 8)

Ontology

Human Disease ( DOID:4621 )

Relationships

is a type of: congenital nervous system abnormality syndrome

congenital nervous system abnormality syndrome Show first 5 Terms
has subtype: chromosome 1q41-q42 deletion syndrome holoprosencephaly 1 holoprosencephaly 2 holoprosencephaly 3 holoprosencephaly 4 ... Show All 13 Terms

chromosome 1q41-q42 deletion syndrome holoprosencephaly 1 holoprosencephaly 2 holoprosencephaly 3 holoprosencephaly 4 holoprosencephaly 5 holoprosencephaly 6 holoprosencephaly 7 holoprosencephaly 8 holoprosencephaly 9 holoprosencephaly 11 holoprosencephaly 12 Holoprosencephaly 13, X-linked Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models