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 thumb morphology (HP:0001172)

Grandparent Node:
Aplasia/Hypoplasia of fingers (HP:0006265)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)

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

..Starting node
..Partial absence of thumb (HP:0009659)

Term ID:

9659

Name:

Partial absence of thumb

Synonym:

Aplasia of the phalanges of the thumb; Partial absence of thumb

Definition:

The absence of a phalangeal segment of a thumb.

Comments:

Reference:

HP:0009659

Genes and Diseases:

Child Nodes:

........

Absent proximal phalanx of thumb (HP:0009637)

........

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

........

Aplasia of the 1st metacarpal (HP:0010035)

Sister Nodes:

Absent thumb (HP:0009777)

Short thumb (HP:0009778)

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:0009659	HP:0009659	Partial absence of thumb	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009659	HP:0009659	Partial absence of thumb	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009659	HP:0009659	Partial absence of thumb	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009659	HP:0009659	Partial absence of thumb	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009659	HP:0009659	Partial absence of thumb	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009659	HP:0009659	Partial absence of thumb	0	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia		106
HP:0009659	HP:0009659	Partial absence of thumb	0	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia		67
HP:0009659	HP:0009659	Partial absence of thumb	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0009659	HP:0009659	Partial absence of thumb	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009659	HP:0009659	Partial absence of thumb	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009659	HP:0009649	Aplasia of the distal phalanx of the thumb	1	CL E G H
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009659	HP:0009637	Absent proximal phalanx of thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009659	HP:0009637	Absent proximal phalanx of thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009659	HP:0009637	Absent proximal phalanx of thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	LMBR1 CL E G H	64327	13243	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	106
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	SHH CL E G H	6469	10848	ORPHA:93321	Radial hemimelia	HP:0040281 - Very frequent	67
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0009659	HP:0010035	Aplasia of the 1st metacarpal	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125

Genes (10) :FANCD2 FGF10 FGFR2 FGFR3 FIG4 LMBR1 SHH TRIO VAC14 XRCC2

Diseases (6) :OMIM:227646 OMIM:149730 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.

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