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 limbs (HP:0040064)

Grandparent Node:
Aplasia/hypoplasia involving the skeleton (HP:0009115)

Parent Node:
Aplasia/hypoplasia of the extremities (HP:0009815)

..Starting node
..Peromelia (HP:0009828)

Term ID:

9828

Name:

Peromelia

Synonym:

Definition:

The distal parts of the limbs are missing leading to a stump formation.

Comments:

Reference:

HP:0009828

Genes and Diseases:

Child Nodes:

........

Upper limb peromelia (HP:0009814)

........

Lower limb peromelia (HP:0009820)

Sister Nodes:

Acromelia (HP:0010884)

Amelia (HP:0009827)

Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Limb undergrowth (HP:0009826)

Phocomelia (HP:0009829)

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:0009828	HP:0009828	Peromelia	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0009828	HP:0009828	Peromelia	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0009828	HP:0009814	Upper limb peromelia	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0009828	HP:0009820	Lower limb peromelia	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106

Genes (2) :CDH11 LMBR1

Diseases (2) :ORPHA:1299 OMIM:200500

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