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 of the phalanges of the thumb (HP:0009658)

Grandparent Node:
Aplasia/Hypoplasia of the thumb (HP:0009601)

Parent Node:
Aplasia of metacarpal bones (HP:0010048)

Parent Node:
Aplasia of the proximal phalanges of the hand (HP:0010242)

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

Parent Node:
Partial absence of thumb (HP:0009659)

..Starting node
..Aplasia of the 1st metacarpal (HP:0010035)

Term ID:

10035

Name:

Aplasia of the 1st metacarpal

Synonym:

Absent 1st long bone of hand; Absent first metacarpal

Definition:

Absent first metacarpal (long bone) of the hand.

Comments:

Reference:

HP:0010035

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent proximal phalanx of thumb (HP:0009637)

Aplasia of the distal phalanx of the thumb (HP:0009649)

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:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0010035	HP:0010035	Aplasia of the 1st metacarpal	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125

Genes (7) :FANCD2 FIG4 LMBR1 SHH TRIO VAC14 XRCC2

Diseases (5) :OMIM:227646 ORPHA:3472 ORPHA:93321 ORPHA:476126 OMIM:617247

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