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:
Abnormality of thumb phalanx (HP:0009602)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Abnormality of the proximal phalanx of the thumb (HP:0009618)

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

..Starting node
..Aplasia/Hypoplasia of the proximal phalanx of the thumb (HP:0009629)

Term ID:

9629

Name:

Aplasia/Hypoplasia of the proximal phalanx of the thumb

Synonym:

Absent/small innermost thumb bone; Absent/underdeveloped innermost thumb bone

Definition:

This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. 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:0009629

Genes and Diseases:

Child Nodes:

........

Absent proximal phalanx of thumb (HP:0009637)

........

Short proximal phalanx of thumb (HP:0009638)

Sister Nodes:

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

Partial absence of thumb (HP:0009659)

Short phalanx of the thumb (HP:0009660)

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:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009629	HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009629	HP:0009638	Short proximal phalanx of thumb	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009629	HP:0009637	Absent proximal phalanx of thumb	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009629	HP:0009637	Absent proximal phalanx of thumb	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009629	HP:0009637	Absent proximal phalanx of thumb	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009629	HP:0009638	Short proximal phalanx of thumb	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009629	HP:0009638	Short proximal phalanx of thumb	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44

Genes (5) :BMPR1B FGF10 FGFR2 FGFR3 IHH

Diseases (4) :OMIM:616849 OMIM:149730 OMIM:607778 OMIM:112500

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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