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 the face (HP:0000271)

Parent Node:
Abnormal adipose tissue morphology (HP:0009124)

Parent Node:
Abnormality of facial soft tissue (HP:0011799)

..Starting node
..Abnormality of facial adipose tissue (HP:0000291)

Term ID:

291

Name:

Abnormality of facial adipose tissue

Synonym:

Abnormality of facial fat; Deformity of facial adipose tissue; Malformation of facial adipose tissue

Definition:

Comments:

Reference:

HP:0000291

Genes and Diseases:

Child Nodes:

........

Increased facial adipose tissue (HP:0000287)

........

Loss of facial adipose tissue (HP:0000292)

................... HP:0009019 Progressive loss of facial adipose tissue

Sister Nodes:

Abnormality of facial musculature (HP:0000301)

Adenoma sebaceum (HP:0009720)

Atrophodermia vermiculata (HP:0100837)

Facial edema (HP:0000282)

Facial hemangioma (HP:0000329)

Facial papilloma (HP:0040167)

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:0000291	HP:0000291	Abnormality of facial adipose tissue	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000291	HP:0000291	Abnormality of facial adipose tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000291	HP:0000287	Increased facial adipose tissue	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000291	HP:0000287	Increased facial adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000291	HP:0000287	Increased facial adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000291	HP:0000292	Loss of facial adipose tissue	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000291	HP:0009019	Progressive loss of facial adipose tissue	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11

Genes (9) :ERCC6 ERCC8 KCNJ6 LMNA LMNB2 POLR3A PPARG PSMB8 ZMPSTE24

Diseases (11) :OMIM:133540 OMIM:216400 ORPHA:435628 ORPHA:280365 OMIM:151660 OMIM:248370 OMIM:608709 ORPHA:3455 ORPHA:79083 OMIM:256040 OMIM:608612

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

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