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 sacrum morphology (HP:0005107)

Grandparent Node:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

Parent Node:
Aplasia/Hypoplasia of the sacrum (HP:0008517)

..Starting node
..Absent/hypoplastic coccyx (HP:0008436)

Term ID:

8436

Name:

Absent/hypoplastic coccyx

Synonym:

Absent/small tailbone; Absent/underdeveloped tailbone

Definition:

Comments:

Reference:

HP:0008436

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of the sacrum (HP:0010305)

Hypoplastic sacrum (HP:0004590)

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:0008436	HP:0008436	Absent/hypoplastic coccyx	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43

Genes (1) :FUCA1

Diseases (1) :OMIM:230000

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