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 coccyx morphology (HP:0008519)

Parent Node:
Prominent coccyx (HP:0040016)

Parent Node:
Protruding coccyx (HP:0040017)

..Starting node
..Prominent protruding coccyx (HP:0008472)

Term ID:

8472

Name:

Prominent protruding coccyx

Synonym:

Large tailbone; Prominent protruding tailbone

Definition:

Comments:

Reference:

HP:0008472

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008472	HP:0008472	Prominent protruding coccyx	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0008472	HP:0008472	Prominent protruding coccyx	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21
HP:0008472	HP:0008472	Prominent protruding coccyx	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5

Genes (2) :TAF1 TBX15

Diseases (3) :OMIM:300966 ORPHA:480907 OMIM:260660

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