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:
Adipose tissue loss (HP:0008887)

Parent Node:
Loss of subcutaneous adipose tissue in limbs (HP:0003635)

..Starting node
..Loss of subcutaneous adipose tissue from upper limbs (HP:0009056)

Term ID:

9056

Name:

Loss of subcutaneous adipose tissue from upper limbs

Synonym:

Loss of fat tissue below the skin from upper limbs

Definition:

Comments:

Reference:

HP:0009056

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009056	HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11

Genes (1) :LMNB2

Diseases (1) :OMIM:608709

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