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 appendicular skeleton morphology (HP:0011844)

Parent Node:
Abnormal pelvic girdle bone morphology (HP:0002644)

..Starting node
..Abnormal greater sciatic notch morphology (HP:0010456)

Term ID:

10456

Name:

Abnormal greater sciatic notch morphology

Synonym:

Abnormality of greater sciatic notch; Abnormality of the greater sacrosciatic notch; Abnormality of the sacroiliac notch

Definition:

An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.

Comments:

Reference:

HP:0010456

Genes and Diseases:

Child Nodes:

........

Narrow greater sacrosciatic notches (HP:0003375)

........

Widening of the sacrosciatic notch (HP:0010457)

Sister Nodes:

Abnormal coccyx morphology (HP:0008519)

Abnormal hip bone morphology (HP:0003272)

Abnormal pelvis bone morphology (HP:0040163)

Abnormal pelvis bone ossification (HP:0009106)

Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Limited hip movement (HP:0008800)

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:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0010456	HP:0010456	Abnormal greater sciatic notch morphology	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0010456	HP:0003185	Short greater sciatic notch	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0010456	HP:0003185	Short greater sciatic notch	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0010456	HP:0003185	Short greater sciatic notch	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0010456	HP:0003185	Short greater sciatic notch	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0010456	HP:0003185	Short greater sciatic notch	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0010456	HP:0008798	Widened greater sciatic notch	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040282 - Frequent	11
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0010456	HP:0003185	Short greater sciatic notch	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0010456	HP:0003375	Narrow greater sciatic notch	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0010456	HP:0003185	Short greater sciatic notch	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214

Genes (20) :ALG9 CFAP410 COL11A1 COL2A1 DDRGK1 DNAJC21 DYM EXTL3 FGFR3 GPC3 GPC4 GPX4 GUSB INTU MATN3 PCYT1A SBDS SLC26A2 SRP54 TRPV4

Diseases (27) :ORPHA:79328 OMIM:263210 OMIM:602271 OMIM:228520 OMIM:184250 ORPHA:93316 OMIM:602557 OMIM:260400 OMIM:223800 OMIM:617425 ORPHA:508533 OMIM:100800 ORPHA:15 ORPHA:1860 OMIM:187600 OMIM:187601 OMIM:312870 OMIM:250220 OMIM:253220 OMIM:617925 OMIM:608728 OMIM:608940 ORPHA:85167 OMIM:256050 OMIM:156530 ORPHA:93314 OMIM:184252

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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