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 adipose tissue morphology (HP:0009124)

Grandparent Node:
Increased connective tissue (HP:0009025)

Parent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Increased adipose tissue (HP:0009126)

..Starting node
..Increased intramuscular fat (HP:0008985)

Term ID:

8985

Name:

Increased intramuscular fat

Synonym:

Increased IM fat; Increased intramuscular fat

Definition:

An abnormal increase in the amount of intramuscular fat tissue.

Comments:

Reference:

HP:0008985

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased adipose tissue around the neck (HP:0000468)

Increased intraabdominal fat (HP:0008993)

Increased subcutaneous truncal adipose tissue (HP:0009003)

Lipedema (HP:0100695)

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:0008985	HP:0008985	Increased intramuscular fat	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0008985	HP:0008985	Increased intramuscular fat	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645

Genes (2) :CHCHD10 LMNA

Diseases (2) :ORPHA:276435 OMIM:151660

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