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 skin morphology (HP:0011121)

Parent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Generalized abnormality of skin (HP:0011354)

..Starting node
..Subcutaneous calcification (HP:0007618)

Term ID:

7618

Name:

Subcutaneous calcification

Synonym:

Skin calcification

Definition:

Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).

Comments:

Reference:

HP:0007618

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of subcutaneous fat tissue (HP:0001001)

Cutaneous photosensitivity (HP:0000992)

Dermatological manifestations of systemic disorders (HP:0001005)

Desquamation of skin soon after birth (HP:0007549)

Ectodermal dysplasia (HP:0000968)

Flushing (HP:0031284)

Fragile skin (HP:0001030)

Generalized papillary lesions (HP:0007482)

Poor wound healing (HP:0001058)

Prematurely aged appearance (HP:0007495)

Vascular skin abnormality (HP:0011276)

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:0007618	HP:0007618	Subcutaneous calcification	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0007618	HP:0007618	Subcutaneous calcification	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007618	HP:0007618	Subcutaneous calcification	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0007618	HP:0007618	Subcutaneous calcification	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0007618	HP:0007618	Subcutaneous calcification	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310

Genes (4) :FGF23 LMNA PSMC3 WRN

Diseases (5) :OMIM:617993 ORPHA:79474 OMIM:619354 ORPHA:902 OMIM:277700

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