Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 3rd metacarpal (HP:0010039)

Parent Node:
Short metacarpal (HP:0010049)

..Starting node
..Short 3rd metacarpal (HP:0010041)

Term ID:

10041

Name:

Short 3rd metacarpal

Synonym:

Hypoplastic 3rd metacarpal; Short third metacarpals; Shortened 3rd long bone of hand; Small 3rd metacarpals

Definition:

Short third metacarpal bone.

Comments:

Reference:

HP:0010041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cuboidal metacarpal (HP:0006011)

Short 1st metacarpal (HP:0010034)

Short 2nd metacarpal (HP:0010038)

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:0010041	HP:0010041	Short 3rd metacarpal	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010041	HP:0010041	Short 3rd metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0010041	HP:0010041	Short 3rd metacarpal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0010041	HP:0010041	Short 3rd metacarpal	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0010041	HP:0010041	Short 3rd metacarpal	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM

Genes (4) :FLNA GNAS LBR SVBP

Diseases (5) :OMIM:311300 ORPHA:79443 ORPHA:79444 OMIM:169400 OMIM:618569

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