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:
Brachydactyly (HP:0001156)

Parent Node:
Type A brachydactyly (HP:0009370)

..Starting node
..Type A1 brachydactyly (HP:0009371)

Term ID:

9371

Name:

Type A1 brachydactyly

Synonym:

Definition:

Comments:

Reference:

HP:0009371

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short middle phalanx of the 5th finger (HP:0004220)

Type A2 brachydactyly (HP:0009372)

Type A4 brachydactyly (HP:0031043)

Type A5 brachydactyly (HP:0031044)

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:0009371	HP:0009371	Type A1 brachydactyly	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	58

Genes (1) :PTH1R

Diseases (1) :OMIM:600002

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