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:
Short thumb (HP:0009778)

Parent Node:
Abnormality of the distal phalanx of the thumb (HP:0009617)

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

Parent Node:
Short middle phalanx of finger (HP:0005819)

Parent Node:
Short phalanx of the thumb (HP:0009660)

..Starting node
..Short proximal phalanx of thumb (HP:0009638)

Term ID:

9638

Name:

Short proximal phalanx of thumb

Synonym:

Hypoplastic/small proximal phalanx of the thumb; Short proximal phalanges of thumb; Short proximal thumb bone; Short proximal thumb phalanx

Definition:

Hypoplastic (short) 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:0009638

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 1st metacarpal (HP:0010034)

Short distal phalanx of the thumb (HP:0009650)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009638	HP:0009638	Short proximal phalanx of thumb	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D	90
HP:0009638	HP:0009638	Short proximal phalanx of thumb	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	44
HP:0009638	HP:0009638	Short proximal phalanx of thumb	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	44

Genes (2) :BMPR1B IHH

Diseases (3) :OMIM:616849 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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