Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hand epiphysis morphology (HP:0005924)help
Grandparent Node:
expandPseudoepiphyses (HP:0010584)help
Parent Node:
expandAbnormal metacarpal epiphysis morphology (HP:0005913)help
Parent Node:
expandPseudoepiphyses of hand bones (HP:0004288)help
..Starting node
..expandPseudoepiphyses of the metacarpals (HP:0009193)help
Term ID: 9193
Name: Pseudoepiphyses of the metacarpals
Synonym: Accessory proximal metacarpal ossification centers; Accessory proximal metacarpal ossification centres; Metacarpal pseudoepiphyses
Definition: A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.
Comments:
Reference: HP:0009193
Genes and Diseases:
 
       Child Nodes:
........expandPseudoepiphyses of second metacarpal (HP:0006179) help
........expandPseudoepiphysis of the 1st metacarpal (HP:0010022) help

 Sister Nodes: 
..expandPseudoepiphyses of the phalanges of the hand (HP:0010235) 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:0009193HP:0009193Pseudoepiphyses of the metacarpals0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0009193HP:0009193Pseudoepiphyses of the metacarpals0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009193HP:0010022Pseudoepiphysis of the 1st metacarpal1NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0009193HP:0006179Pseudoepiphyses of second metacarpal1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124


Genes (9) :CPLX1 CTBP1 FGFRL1 LETM1 NPR3 NSD2 PCNT RPS6KA3 SALL1

Diseases (5) :OMIM:194190 OMIM:619543 OMIM:210720 ORPHA:192 OMIM:107480
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.