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:
Abnormal hip bone morphology (HP:0003272)

Parent Node:
Abnormality of the ischium (HP:0003174)

..Starting node
..Broad ischia (HP:0100865)

Term ID:

100865

Name:

Broad ischia

Synonym:

Definition:

Increased width of the ischium, which forms the lower and back part of the hip bone.

Comments:

Reference:

HP:0100865

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic ischia (HP:0003175)

Narrow foramen obturatorium (HP:0100958)

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:0100865	HP:0100865	Broad ischia	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0100865	HP:0100865	Broad ischia	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0100865	HP:0100865	Broad ischia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100865	HP:0100865	Broad ischia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0100865	HP:0100865	Broad ischia	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI

Genes (5) :ALG9 COL11A1 EXTL3 LIFR TMEM53

Diseases (5) :ORPHA:79328 OMIM:228520 ORPHA:508533 OMIM:601559 OMIM:619727

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