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:
Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Parent Node:
Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

Parent Node:
Short metacarpal (HP:0010049)

..Starting node
..Short 2nd metacarpal (HP:0010038)

Term ID:

10038

Name:

Short 2nd metacarpal

Synonym:

Hypoplastic 2nd metacarpal; Rudimentary 2nd metacarpal; Shortened 2nd long bone of hand

Definition:

Short second metacarpal bone because of developmental hypoplasia.

Comments:

Reference:

HP:0010038

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cuboidal metacarpal (HP:0006011)

Short 1st metacarpal (HP:0010034)

Short 3rd metacarpal (HP:0010041)

Short 4th metacarpal (HP:0010044)

Short 5th metacarpal (HP:0010047)

Short metacarpals with rounded proximal ends (HP:0006161)

Shortening of all metacarpals (HP:0005720)

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:0010038	HP:0010038	Short 2nd metacarpal	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0010038	HP:0010038	Short 2nd metacarpal	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0010038	HP:0010038	Short 2nd metacarpal	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52

Genes (3) :BMP2 BMPR1B GDF5

Diseases (1) :ORPHA:93396

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