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:
Avascular necrosis (HP:0010885)

Parent Node:
Abnormal joint morphology (HP:0001367)

Parent Node:
Juvenile aseptic necrosis (HP:0100323)

..Starting node
..Osteochondrosis (HP:0040188)

Term ID:

40188

Name:

Osteochondrosis

Synonym:

Definition:

Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.

Comments:

Reference:

HP:0040188

Genes and Diseases:

Child Nodes:

........

Osteochondritis Dissecans (HP:0010886)

Sister Nodes:

Avascular necrosis of the capital femoral epiphysis (HP:0005743)

Morbus Kienboeck (HP:0010889)

Morbus Koehler (HP:0010888)

Morbus Osgood-Schlatter (HP:0010890)

Morbus Scheuermann (HP:0010891)

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:0040188	HP:0040188	Osteochondrosis	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0040188	HP:0040188	Osteochondrosis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0040188	HP:0040188	Osteochondrosis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0040188	HP:0040188	Osteochondrosis	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0040188	HP:0040188	Osteochondrosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0040188	HP:0040188	Osteochondrosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0040188	HP:0040188	Osteochondrosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0040188	HP:0040188	Osteochondrosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0040188	HP:0040188	Osteochondrosis	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0040188	HP:0040188	Osteochondrosis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0040188	HP:0040188	Osteochondrosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0040188	HP:0010886	Osteochondritis dissecans	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0040188	HP:0010886	Osteochondritis dissecans	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0040188	HP:0010886	Osteochondritis dissecans	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0040188	HP:0010886	Osteochondritis dissecans	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0040188	HP:0010886	Osteochondritis dissecans	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0040188	HP:0010886	Osteochondritis dissecans	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (10) :ACAN ACTB ACTG1 COL9A2 DYRK1A FGFR1 KRAS LMX1B ORC1 SMAD3

Diseases (9) :OMIM:165800 ORPHA:2995 OMIM:600204 ORPHA:268261 ORPHA:2396 ORPHA:2614 OMIM:224690 ORPHA:284984 OMIM:613795

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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