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:
Abnormality of the pubic bone (HP:0003172)

Parent Node:
Aplasia/Hypoplasia involving the pelvis (HP:0009103)

..Starting node
..Aplasia/Hypoplasia of the pubic bone (HP:0009104)

Term ID:

9104

Name:

Aplasia/Hypoplasia of the pubic bone

Synonym:

Absent/small pubic bones; Absent/underdeveloped pubic bones; Hypoplastic/aplastic pubic bones

Definition:

Absence or underdevelopment of the pubic bone.

Comments:

Reference:

HP:0009104

Genes and Diseases:

Child Nodes:

........

Hypoplastic pubic bone (HP:0003173)

................... HP:0008822 Hypoplastic ischiopubic rami
................... HP:0008823 Hypoplastic inferior pubic rami
................... HP:0008830 Hypoplastic pubic rami

........

Aplastic pubic bones (HP:0008817)

Sister Nodes:

Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Hypoplastic pelvis (HP:0008839)

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:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0009104	HP:0009104	Aplasia/Hypoplasia of the pubic bone	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0009104	HP:0003173	Hypoplastic pubic bone	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0009104	HP:0008817	Aplastic pubic bones	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0009104	HP:0008822	Hypoplastic ischiopubic rami	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009104	HP:0008823	Hypoplastic inferior pubic rami	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0009104	HP:0008830	Hypoplastic pubic rami	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7

Genes (20) :ABCC9 CCDC8 COL11A2 COL2A1 CPLX1 CTBP1 CUL7 HSPG2 INPPL1 INTU KAT6B LETM1 MATN3 NELFA NSD2 OBSL1 PIGG SETBP1 TBX15 WNT7A

Diseases (17) :OMIM:239850 ORPHA:2616 OMIM:614524 OMIM:151210 ORPHA:93346 OMIM:184250 ORPHA:280 ORPHA:1865 OMIM:258480 ORPHA:2746 OMIM:617925 OMIM:606170 OMIM:608728 OMIM:269150 ORPHA:798 OMIM:260660 OMIM:276820

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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