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 the middle phalanx of the hand (HP:0010239)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the thumb (HP:0009629)

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

..Starting node
..Absent proximal phalanx of thumb (HP:0009637)

Term ID:

9637

Name:

Absent proximal phalanx of thumb

Synonym:

Absent innermost thumb bone; Absent ossification/absent proximal thumb phalanx; Aplasia of the proximal phalanx of the thumb

Definition:

Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.

Comments:

Reference:

HP:0009637

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the 1st metacarpal (HP:0010035)

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:0009637	HP:0009637	Absent proximal phalanx of thumb	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009637	HP:0009637	Absent proximal phalanx of thumb	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009637	HP:0009637	Absent proximal phalanx of thumb	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145

Genes (3) :FGF10 FGFR2 FGFR3

Diseases (1) :OMIM:149730

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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