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/hypoplasia of the extremities (HP:0009815)

Parent Node:
Limb undergrowth (HP:0009826)

..Starting node
..Distal shortening of limbs (HP:0006402)

Term ID:

6402

Name:

Distal shortening of limbs

Synonym:

Short outer part of limbs

Definition:

Comments:

Reference:

HP:0006402

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hemiatrophy (HP:0100556)

Lower limb undergrowth (HP:0009816)

Meromelia (HP:0030728)

Mesomelia (HP:0003027)

Micromelia (HP:0002983)

Rhizomelia (HP:0008905)

Upper limb undergrowth (HP:0009824)

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:0006402	HP:0006402	Distal shortening of limbs	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0006402	HP:0006402	Distal shortening of limbs	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0006402	HP:0006402	Distal shortening of limbs	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58

Genes (3) :GLI3 HDAC6 PTH1R

Diseases (3) :OMIM:146510 OMIM:300863 ORPHA:50945

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