Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 musculature (HP:0003011)

Parent Node:
Abnormal skeletal muscle morphology (HP:0011805)

..Starting node
..Calcinosis (HP:0003761)

Term ID:

3761

Name:

Calcinosis

Synonym:

Calcium buildup in soft tissues of body

Definition:

Formation of calcium deposits in any soft tissue.

Comments:

Reference:

HP:0003761

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal muscle fiber morphology (HP:0004303)

Abnormality of muscle size (HP:0030236)

Decreased muscle mass (HP:0003199)

Fatty replacement of skeletal muscle (HP:0012548)

Firm muscles (HP:0003725)

Flexion contracture (HP:0001371)

Generalized muscular appearance from birth (HP:0003716)

Intramuscular hematoma (HP:0012233)

Levator palpebrae superioris atrophy (HP:0012241)

Muscular dystrophy (HP:0003560)

Muscular edema (HP:0100748)

Myopathy (HP:0003198)

Myositis (HP:0100614)

Rhabdomyolysis (HP:0003201)

Skeletal muscle fibrosis (HP:0030951)

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:0003761	HP:0003761	Calcinosis	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040281 - Very frequent	260
HP:0003761	HP:0003761	Calcinosis	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0003761	HP:0003761	Calcinosis	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0003761	HP:0003761	Calcinosis	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0003761	HP:0003761	Calcinosis	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0003761	HP:0003761	Calcinosis	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0003761	HP:0003761	Calcinosis	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0003761	HP:0003761	Calcinosis	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0003761	HP:0003761	Calcinosis	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003761	HP:0003761	Calcinosis	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0003761	HP:0003761	Calcinosis	0	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.	8
HP:0003761	HP:0003761	Calcinosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83

Genes (11) :AGXT ANAPC1 CASR GALNT3 GEMIN4 GNAS LBR LMNA RECQL4 SAMD9 ZMPSTE24

Diseases (12) :ORPHA:93598 ORPHA:221008 OMIM:239200 OMIM:211900 OMIM:617913 ORPHA:79443 ORPHA:79444 OMIM:613471 OMIM:248370 ORPHA:221016 OMIM:610455 ORPHA:90154

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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