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:
Abnormality of the humerus (HP:0003063)

Grandparent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Aplasia/hypoplasia of the humerus (HP:0006507)

..Starting node
..Hypoplastic distal humeri (HP:0005025)

Term ID:

5025

Name:

Hypoplastic distal humeri

Synonym:

Definition:

Underdevelopment of the distal portion of the humerus.

Comments:

Reference:

HP:0005025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent humerus (HP:0003862)

Short humerus (HP:0005792)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005025	HP:0005025	Hypoplastic distal humeri	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0005025	HP:0005025	Hypoplastic distal humeri	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0005025	HP:0005025	Hypoplastic distal humeri	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99

Genes (2) :FZD2 GPC6

Diseases (3) :OMIM:164745 ORPHA:93329 OMIM:258315

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