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:
Abnormal metacarpal morphology (HP:0005916)

Grandparent Node:
Aplasia/hypoplasia involving bones of the hand (HP:0005927)

Parent Node:
Abnormal 2nd metacarpal morphology (HP:0010010)

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

..Starting node
..Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

Term ID:

10036

Name:

Aplasia/Hypoplasia of the 2nd metacarpal

Synonym:

Absent/small 2nd long bone of hand; Absent/underdeveloped 2nd long bone of hand

Definition:

Aplasia or Hypoplasia affecting the 2nd metacarpal.

Comments:

Reference:

HP:0010036

Genes and Diseases:

Child Nodes:

........

Long second metacarpal (HP:0006040)

........

Aplasia of the 2nd metacarpal (HP:0010037)

........

Short 2nd metacarpal (HP:0010038)

Sister Nodes:

Aplasia of metacarpal bones (HP:0010048)

Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)

Aplasia/Hypoplasia of the 3rd metacarpal (HP:0010039)

Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)

Aplasia/Hypoplasia of the 5th metacarpal (HP:0010045)

Short metacarpal (HP:0010049)

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:0010036	HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2		13
HP:0010036	HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2		90
HP:0010036	HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2		52
HP:0010036	HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010036	HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0010036	HP:0010038	Short 2nd metacarpal	1	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0010036	HP:0010038	Short 2nd metacarpal	1	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0010036	HP:0010038	Short 2nd metacarpal	1	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0010036	HP:0010037	Aplasia of the 2nd metacarpal	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0010036	HP:0006040	Long second metacarpal	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90

Genes (5) :BMP2 BMPR1B GDF5 GLI3 RUNX2

Diseases (3) :ORPHA:93396 ORPHA:93322 OMIM:119600

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