Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal cerebral morphology (HP:0002060)

Grandparent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Parent Node:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

..Starting node
..Aprosencephaly (HP:0007268)

Term ID:

7268

Name:

Aprosencephaly

Synonym:

Definition:

Comments:

Reference:

HP:0007268

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anencephaly (HP:0002323)

Aplasia/Hypoplasia of the corpus callosum (HP:0007370)

Cerebral hypoplasia (HP:0006872)

Microcephaly (HP:0000252)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007268	HP:0007268	Aprosencephaly	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.