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:
Abnormal pelvic girdle bone morphology (HP:0002644)

Parent Node:
Abnormal hip bone morphology (HP:0003272)

..Starting node
..Abnormality of the ischium (HP:0003174)

Term ID:

3174

Name:

Abnormality of the ischium

Synonym:

Abnormality of the ischial bones; Anomaly of the ischium

Definition:

An anomaly of the ischium, which forms the lower and back part of the hip bone.

Comments:

Reference:

HP:0003174

Genes and Diseases:

Child Nodes:

........

Hypoplastic ischia (HP:0003175)

................... HP:0008822 Hypoplastic ischiopubic rami

........

Broad ischia (HP:0100865)

........

Narrow foramen obturatorium (HP:0100958)

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Abnormal ilium morphology (HP:0002867)

Abnormality of the pubic bone (HP:0003172)

Arthralgia of the hip (HP:0003365)

Coxa magna (HP:0003279)

Hip dysplasia (HP:0001385)

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:0003174	HP:0003174	Abnormality of the ischium	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003174	HP:0003174	Abnormality of the ischium	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0003174	HP:0003174	Abnormality of the ischium	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0003174	HP:0003174	Abnormality of the ischium	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0003174	HP:0003174	Abnormality of the ischium	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0003174	HP:0003174	Abnormality of the ischium	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003174	HP:0003174	Abnormality of the ischium	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003174	HP:0003174	Abnormality of the ischium	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003174	HP:0003174	Abnormality of the ischium	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003174	HP:0003174	Abnormality of the ischium	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0003174	HP:0003174	Abnormality of the ischium	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0003174	HP:0003174	Abnormality of the ischium	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0003174	HP:0003174	Abnormality of the ischium	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003174	HP:0003174	Abnormality of the ischium	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0003174	HP:0003174	Abnormality of the ischium	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0003174	HP:0003174	Abnormality of the ischium	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0003174	HP:0003174	Abnormality of the ischium	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0003174	HP:0003174	Abnormality of the ischium	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0003174	HP:0003174	Abnormality of the ischium	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0003174	HP:0003174	Abnormality of the ischium	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0003174	HP:0003174	Abnormality of the ischium	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0003174	HP:0003174	Abnormality of the ischium	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003174	HP:0003174	Abnormality of the ischium	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0003174	HP:0003174	Abnormality of the ischium	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0003174	HP:0003174	Abnormality of the ischium	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003174	HP:0003174	Abnormality of the ischium	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0003174	HP:0003174	Abnormality of the ischium	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003174	HP:0003174	Abnormality of the ischium	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0003174	HP:0003174	Abnormality of the ischium	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0003174	HP:0003174	Abnormality of the ischium	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0003174	HP:0003174	Abnormality of the ischium	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0003174	HP:0003174	Abnormality of the ischium	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003174	HP:0003174	Abnormality of the ischium	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0003174	HP:0003175	Hypoplastic ischia	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003174	HP:0100865	Broad ischia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0003174	HP:0003175	Hypoplastic ischia	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003174	HP:0003175	Hypoplastic ischia	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0003174	HP:0003175	Hypoplastic ischia	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003174	HP:0100865	Broad ischia	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003174	HP:0003175	Hypoplastic ischia	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0003174	HP:0003175	Hypoplastic ischia	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0003174	HP:0003175	Hypoplastic ischia	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0003174	HP:0100865	Broad ischia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0003174	HP:0003175	Hypoplastic ischia	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0003174	HP:0003175	Hypoplastic ischia	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0003174	HP:0003175	Hypoplastic ischia	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0003174	HP:0003175	Hypoplastic ischia	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0003174	HP:0003175	Hypoplastic ischia	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0003174	HP:0003175	Hypoplastic ischia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0003174	HP:0003175	Hypoplastic ischia	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0003174	HP:0100958	Narrow foramen obturatorium	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003174	HP:0100865	Broad ischia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0003174	HP:0003175	Hypoplastic ischia	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0003174	HP:0003175	Hypoplastic ischia	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0003174	HP:0003175	Hypoplastic ischia	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0003174	HP:0100865	Broad ischia	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003174	HP:0003175	Hypoplastic ischia	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0003174	HP:0008822	Hypoplastic ischiopubic rami	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254

Genes (26) :ABCC9 ALG9 CAV1 CCDC8 CCN2 CCR6 CDCA7 COL11A1 COL11A2 COL2A1 CUL7 EXTL3 FGFR2 HLA-DRB1 HSPG2 IFT43 INPPL1 IRF5 KAT6B KIAA0319L LIFR OBSL1 PAM16 TBX15 TMEM53 TRIP11

Diseases (22) :OMIM:239850 ORPHA:79328 ORPHA:220393 ORPHA:220402 ORPHA:2616 OMIM:616910 OMIM:228520 OMIM:614524 OMIM:151210 ORPHA:508533 ORPHA:313855 ORPHA:1865 OMIM:617866 ORPHA:2746 OMIM:258480 OMIM:606170 ORPHA:85201 OMIM:601559 OMIM:613320 OMIM:260660 OMIM:619727 OMIM:200600

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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