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 metacarpal morphology (HP:0005916)

Grandparent Node:
Synostosis involving bones of the hand (HP:0004278)

Grandparent Node:
Synostosis of metacarpals/metatarsals (HP:0100265)

Parent Node:
Abnormal 1st metacarpal morphology (HP:0010009)

Parent Node:
Metacarpal synostosis (HP:0009701)

..Starting node
..Synostosis involving the 1st metacarpal (HP:0009703)

Term ID:

9703

Name:

Synostosis involving the 1st metacarpal

Synonym:

First metacarpophalangeal joint synostosis; Fusion involving 1st long bone of hand; Symphalangism affecting the 1st metacarpal

Definition:

Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 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:0009703

Genes and Diseases:

Child Nodes:

........

Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal (HP:0009640)

Sister Nodes:

Carpometacarpal synostosis (HP:0100328)

Metacarpophalangeal synostosis (HP:0005880)

Synostosis involving the 2nd metacarpal (HP:0009705)

Synostosis involving the 3rd metacarpal (HP:0009706)

Synostosis involving the 4th metacarpal (HP:0009707)

Synostosis involving the 5th metacarpal (HP:0009708)

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:0009703	HP:0009703	Synostosis involving the 1st metacarpal	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0009703	HP:0009703	Synostosis involving the 1st metacarpal	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0009703	HP:0009703	Synostosis involving the 1st metacarpal	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0009703	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0009703	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28

Genes (2) :NONO PQBP1

Diseases (3) :ORPHA:466791 OMIM:300967 OMIM:309500

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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