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 sacroiliac joint morphology (HP:0100781)

Parent Node:
obsolete Abnormality of the sacroiliac notch (HP:0030266)

..Starting node
..Short greater sciatic notch (HP:0003185)

Term ID:

3185

Name:

Short greater sciatic notch

Synonym:

Short sacroiliac notch; Shortened sacroiliac notches; Small sacroiliac notch

Definition:

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.

Comments:

Reference:

HP:0003185

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Narrow sacroiliac notch (HP:0008803)

Widened greater sciatic notch (HP:0008798)

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:0003185	HP:0003185	Short greater sciatic notch	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0003185	HP:0003185	Short greater sciatic notch	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0003185	HP:0003185	Short greater sciatic notch	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0003185	HP:0003185	Short greater sciatic notch	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0003185	HP:0003185	Short greater sciatic notch	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0003185	HP:0003185	Short greater sciatic notch	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0003185	HP:0003185	Short greater sciatic notch	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214

Genes (5) :FGFR3 GPC3 GPC4 SLC26A2 TRPV4

Diseases (6) :ORPHA:1860 OMIM:187600 OMIM:187601 OMIM:312870 OMIM:256050 ORPHA:93314

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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