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:
Abnormal facial shape (HP:0001999)

Parent Node:
Facial asymmetry (HP:0000324)

..Starting node
..Hemifacial atrophy (HP:0011331)

Term ID:

11331

Name:

Hemifacial atrophy

Synonym:

Atrophy of half of face; Atrophy of one side of the face; Facial hemiatrophy

Definition:

Unilateral atrophy of facial tissues, including muscles, bones and skin.

Comments:

Reference:

HP:0011331

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric crying face (HP:0011333)

Craniofacial asymmetry (HP:0004484)

Hemifacial hypertrophy (HP:0005323)

Hemifacial hypoplasia (HP:0011332)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011331	HP:0011331	Hemifacial atrophy	0	CL E G H

Genes (0) :

Diseases (0) :

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