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 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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003761	HP:0003761	Calcinosis	0	AGXT CL E G H	189	93598				ORPHA	1	754	341	604285
HP:0003761	HP:0003761	Calcinosis	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0003761	HP:0003761	Calcinosis	0	GALNT3 CL E G H	2591	211900	Tumoral calcinosis, familial, hyperphosphatemic	211900	C1876187	OMIM	1	307	4125	601756
HP:0003761	HP:0003761	Calcinosis	0	GEMIN4 CL E G H	50628	617913	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	617913	CN889218	OMIM	1	241	15717	606969
HP:0003761	HP:0003761	Calcinosis	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	357	6518	600024
HP:0003761	HP:0003761	Calcinosis	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1814	6636	150330
HP:0003761	HP:0003761	Calcinosis	0	SAMD9 CL E G H	54809	610455	Tumoral calcinosis, familial, normophosphatemic	610455	C1864861	OMIM	1	748	1348	610456
HP:0003761	HP:0003761	Calcinosis	0	ZMPSTE24 CL E G H	10269	90154				ORPHA	1	209	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003761	HP:0003761	Calcinosis	0	GNAS CL E G H	2778	79444				ORPHA	0	644	4392	139320
HP:0003761	HP:0003761	Calcinosis	0	GNAS CL E G H	2778	79443				ORPHA	0	644	4392	139320

Genes (9) :AGXT CASR GALNT3 GEMIN4 GNAS LBR LMNA SAMD9 ZMPSTE24

Diseases (10) :93598 239200 211900 617913 79443 79444 613471 248370 610455 90154

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.