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 ilium morphology (HP:0002867)

Parent Node:
Hypoplastic ilia (HP:0000946)

..Starting node
..Hypoplastic inferior ilia (HP:0008821)

Term ID:

8821

Name:

Hypoplastic inferior ilia

Synonym:

Definition:

Comments:

Reference:

HP:0008821

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic iliac body (HP:0008824)

Hypoplastic iliac wing (HP:0002866)

Short iliac bones (HP:0100866)

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:0008821	HP:0008821	Hypoplastic inferior ilia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0008821	HP:0008821	Hypoplastic inferior ilia	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0008821	HP:0008821	Hypoplastic inferior ilia	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0008821	HP:0008821	Hypoplastic inferior ilia	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109

Genes (4) :MAN2B1 PCYT1A RUNX2 SOX9

Diseases (4) :ORPHA:309282 OMIM:608940 ORPHA:1452 ORPHA:140

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.