Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Parent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Parent Node:
expandAbnormal proximal phalanx morphology of the hand (HP:0009834)help
..Starting node
..expandThin proximal phalanges with broad epiphyses of the hand (HP:0006213)help
Term ID: 6213
Name: Thin proximal phalanges with broad epiphyses of the hand
Synonym: Thin innermost bone with broad end part of the hand bone; Thin proximal phalanges with broad epiphyses
Definition:
Comments:
Reference: HP:0006213
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245) help
..expandAplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851) help
..expandBroad proximal phalanges of the hand (HP:0009852) help
..expandBullet-shaped proximal phalanges of the hand (HP:0009853) help
..expandCurved proximal phalanges of the hand (HP:0009854) help
..expandDuplication of the middle phalanx of hand (HP:0010008) help
..expandLong proximal phalanx of finger (HP:0006127) help
..expandOsteolytic defects of the proximal phalanges of the hand (HP:0009855) help
..expandProximal phalangeal periosteal thickening (HP:0006175) help
..expandSclerosis of proximal finger phalanx (HP:0100917) help
..expandSlender proximal phalanx of finger (HP:0012297) help
..expandSymphalangism affecting the proximal phalanges of the hand (HP:0009857) help
..expandTombstone-shaped proximal phalanges (HP:0006060) help
..expandTriangular shaped proximal phalanges of the hand (HP:0009858) 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:0006213HP:0006213Thin proximal phalanges with broad epiphyses of the hand0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44


Genes (1) :IHH

Diseases (1) :OMIM:112500
 

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