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
..Hypoplastic ischia (HP:0003175)

Term ID:

3175

Name:

Hypoplastic ischia

Synonym:

Hypoplastic ischial bones; Hypoplastic ischii; Hypoplastic ischium

Definition:

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

Comments:

Reference:

HP:0003175

Genes and Diseases:

Child Nodes:

........

Hypoplastic ischiopubic rami (HP:0008822)

Sister Nodes:

Broad ischia (HP:0100865)

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:0003175	HP:0003175	Hypoplastic ischia	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003175	HP:0003175	Hypoplastic ischia	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0003175	HP:0003175	Hypoplastic ischia	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0003175	HP:0003175	Hypoplastic ischia	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0003175	HP:0003175	Hypoplastic ischia	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0003175	HP:0003175	Hypoplastic ischia	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0003175	HP:0003175	Hypoplastic ischia	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0003175	HP:0003175	Hypoplastic ischia	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0003175	HP:0003175	Hypoplastic ischia	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0003175	HP:0003175	Hypoplastic ischia	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0003175	HP:0003175	Hypoplastic ischia	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0003175	HP:0003175	Hypoplastic ischia	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0003175	HP:0003175	Hypoplastic ischia	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0003175	HP:0003175	Hypoplastic ischia	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0003175	HP:0003175	Hypoplastic ischia	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0003175	HP:0003175	Hypoplastic ischia	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0003175	HP:0003175	Hypoplastic ischia	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0003175	HP:0003175	Hypoplastic ischia	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0003175	HP:0008822	Hypoplastic ischiopubic rami	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254

Genes (16) :ABCC9 CCDC8 CDCA7 COL11A1 COL11A2 COL2A1 CUL7 FGFR2 HSPG2 IFT43 INPPL1 KAT6B OBSL1 PAM16 TBX15 TRIP11

Diseases (16) :OMIM:239850 ORPHA:2616 OMIM:616910 OMIM:228520 OMIM:614524 OMIM:151210 ORPHA:313855 ORPHA:1865 OMIM:617866 OMIM:258480 ORPHA:2746 ORPHA:85201 OMIM:606170 OMIM:613320 OMIM:260660 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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