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:
Localized skin lesion (HP:0011355)

Parent Node:
Aplasia/Hypoplasia of the skin (HP:0008065)

..Starting node
..Focal dermal aplasia/hypoplasia (HP:0007510)

Term ID:

7510

Name:

Focal dermal aplasia/hypoplasia

Synonym:

Definition:

Comments:

Reference:

HP:0007510

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia cutis congenita (HP:0001057)

Asymmetric, linear skin defects (HP:0007398)

Congenital localized absence of skin (HP:0007383)

Dermal atrophy (HP:0004334)

Hypoplastic pilosebaceous units (HP:0007515)

Hypoplastic-absent sebaceous glands (HP:0007411)

Thin skin (HP:0000963)

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:0007510	HP:0007510	Focal dermal aplasia/hypoplasia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	20

Genes (1) :PORCN

Diseases (1) :OMIM:305600

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