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 hip bone morphology (HP:0003272)

Parent Node:
Abnormal ilium morphology (HP:0002867)

..Starting node
..Squared iliac bones (HP:0003177)

Term ID:

3177

Name:

Squared iliac bones

Synonym:

Square iliac bones; Squaring of iliac bones

Definition:

A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.

Comments:

Reference:

HP:0003177

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal iliac wing morphology (HP:0011867)

Abnormal sacroiliac joint morphology (HP:0100781)

Hypoplastic ilia (HP:0000946)

Irregular iliac crest (HP:0003796)

Snail-like ilia (HP:0031026)

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:0003177	HP:0003177	Squared iliac bones	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003177	HP:0003177	Squared iliac bones	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0003177	HP:0003177	Squared iliac bones	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003177	HP:0003177	Squared iliac bones	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0003177	HP:0003177	Squared iliac bones	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0003177	HP:0003177	Squared iliac bones	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0003177	HP:0003177	Squared iliac bones	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003177	HP:0003177	Squared iliac bones	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0003177	HP:0003177	Squared iliac bones	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0003177	HP:0003177	Squared iliac bones	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003177	HP:0003177	Squared iliac bones	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0003177	HP:0003177	Squared iliac bones	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0003177	HP:0003177	Squared iliac bones	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214

Genes (12) :AEBP1 CEP120 HSPG2 INPPL1 LONP1 MATN3 NEPRO PAM16 PLCB3 PTH1R RNU4ATAC TRPV4

Diseases (13) :OMIM:618000 OMIM:616300 OMIM:255800 OMIM:258480 ORPHA:2746 OMIM:600373 OMIM:608728 OMIM:618853 OMIM:613320 OMIM:618961 OMIM:215045 OMIM:226960 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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