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:
Aplasia cutis congenita (HP:0001057)

Parent Node:
Aplasia cutis congenita of scalp (HP:0007385)

..Starting node
..Aplasia cutis congenita over parietal area (HP:0004476)

Term ID:

4476

Name:

Aplasia cutis congenita over parietal area

Synonym:

Absent cutis congenita over parietal area

Definition:

A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.

Comments:

Reference:

HP:0004476

Genes and Diseases:

Child Nodes:

........

Aplasia cutis congenita over posterior parietal area (HP:0007590)

Sister Nodes:

Aplasia cutis congenita over the scalp vertex (HP:0004471)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004476	HP:0004476	Aplasia cutis congenita over parietal area	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	147
HP:0004476	HP:0007590	Aplasia cutis congenita over posterior parietal area	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	147

Genes (1) :ARHGAP31

Diseases (1) :OMIM:100300

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