General Information
Term	holoprosencephaly	ID (Ontology)	DOID:4621 (Human Disease)
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.
Also Known As	"Holoprosencephaly sequence"
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

holoprosencephaly

ID (Ontology)

DOID:4621 (Human Disease)

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.

Also Known As

"Holoprosencephaly sequence"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

physical disorder
 |__congenital nervous system abnormality__
disease                                    |
 |__syndrome_______________________________|
nervous system disease                     |
 |__congenital nervous system abnormality__|
                                           holoprosencephaly  12 rec.
                                            |__chromosome 1q41-q42 deletion syndrome
                                            |__holoprosencephaly 1
                                            |__holoprosencephaly 2 1 rec.
                                            |__holoprosencephaly 3 1 rec.
                                            |__holoprosencephaly 4 2 rec.
                                            |__holoprosencephaly 5 1 rec.
                                            |__holoprosencephaly 6
                                            |__holoprosencephaly 7 1 rec.
                                            |__holoprosencephaly 8
                                            |__holoprosencephaly 9 1 rec.
                                            |__holoprosencephaly 11 2 rec.
                                            |__holoprosencephaly 12 1 rec.
                                            |__Holoprosencephaly 13, X-linked 2 rec.

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Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	syndrome congenital nervous system abnormality
Part of
Synonyms & Secondary IDs
Synonyms
	"Holoprosencephaly sequence" EXACT
Secondary IDs

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

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

syndrome
congenital nervous system abnormality

Part of

Synonyms & Secondary IDs

Synonyms

"Holoprosencephaly sequence" EXACT

Secondary IDs

External Crossreferences & Linkouts

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