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 carpal morphology (HP:0001191)

Parent Node:
Abnormally shaped carpal bones (HP:0006014)

..Starting node
..Irregular carpal bones (HP:0004236)

Term ID:

4236

Name:

Irregular carpal bones

Synonym:

Irregular wrist bones

Definition:

Carpal bones with irregular or fragmented margins.

Comments:

Reference:

HP:0004236

Genes and Diseases:

Child Nodes:

Sister Nodes:

Comma-shaped carpal bones (HP:0004235)

Disharmonious carpal bone (HP:0006153)

Large carpal bones (HP:0004237)

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:0004236	HP:0004236	Irregular carpal bones	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0004236	HP:0004236	Irregular carpal bones	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0004236	HP:0004236	Irregular carpal bones	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0004236	HP:0004236	Irregular carpal bones	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240

Genes (3) :COMP EIF2AK3 GNPTAB

Diseases (4) :OMIM:177170 ORPHA:750 OMIM:226980 OMIM:252600

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