Human Phenotype Ontology 
Grandparent Node:
expandAbnormal metacarpal morphology (HP:0005916)help
Grandparent Node:
expandSynostosis involving bones of the hand (HP:0004278)help
Grandparent Node:
expandSynostosis of metacarpals/metatarsals (HP:0100265)help
Parent Node:
expandAbnormal metacarpophalangeal joint morphology (HP:0011911)help
Parent Node:
expandFinger symphalangism (HP:0009700)help
Parent Node:
expandMetacarpal synostosis (HP:0009701)help
..Starting node
..expandMetacarpophalangeal synostosis (HP:0005880)help
Term ID: 5880
Name: Metacarpophalangeal synostosis
Synonym: Fused long bone of hand with innermost finger bone
Definition: Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.
Comments:
Reference: HP:0005880
Genes and Diseases:
 
       Child Nodes:
........expandSymphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal (HP:0009234) help
........expandSymphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal (HP:0009478) help
........expandSymphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal (HP:0009483) help
........expandSymphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal (HP:0009598) help
........expandSynostosis of the proximal phalanx of the thumb with the 1st metatcarpal (HP:0009640) help

 Sister Nodes: 
..expandCarpometacarpal synostosis (HP:0100328) help
..expandSynostosis involving the 1st metacarpal (HP:0009703) help
..expandSynostosis involving the 2nd metacarpal (HP:0009705) help
..expandSynostosis involving the 3rd metacarpal (HP:0009706) help
..expandSynostosis involving the 4th metacarpal (HP:0009707) help
..expandSynostosis involving the 5th metacarpal (HP:0009708) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005880HP:0005880Metacarpophalangeal synostosis0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040282 - Frequent52
HP:0005880HP:0005880Metacarpophalangeal synostosis0NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040282 - Frequent22
HP:0005880HP:0005880Metacarpophalangeal synostosis0NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0005880HP:0005880Metacarpophalangeal synostosis0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0005880HP:0005880Metacarpophalangeal synostosis0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0005880HP:0009478Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal1 CL E G H
HP:0005880HP:0009234Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal1 CL E G H
HP:0005880HP:0009598Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal1 CL E G H
HP:0005880HP:0009483Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal1 CL E G H
HP:0005880HP:0009640Synostosis of the proximal phalanx of the thumb with the 1st metacarpal1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0005880HP:0009640Synostosis of the proximal phalanx of the thumb with the 1st metacarpal1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28


Genes (4) :GDF5 NOG NONO PQBP1

Diseases (4) :ORPHA:3250 OMIM:185800 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.