Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Abnormal morphology of bones of the upper limbs (HP:0040065)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Parent Node:
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Abnormal distal phalanx morphology of finger (HP:0009832)help
Parent Node:
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Broad phalanges of the hand (HP:0009768)help
..Starting node
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Broad distal phalanx of finger (HP:0009836)help
Term ID: 9836
Name: Broad distal phalanx of finger
Synonym: Broad distal phalanges; Broad distal phalanges of the hand; Broad distal phalanx; Broad outermost finger bone; Broad terminal phalanges; Broad, square ends of distal phalanges; Spatulate terminal phalanges
Definition: Abnormally wide (broad) distal phalanx of finger.
Comments:
Reference: HP:0009836
Genes and Diseases:
 
       Child Nodes:
........expandBroad distal phalanx of the 5th finger (HP:0009240) help
........expandBroad distal phalanx of the 4th finger (HP:0009292) help
........expandBroad distal phalanx of the 3rd finger (HP:0009422) help
........expandBroad distal phalanx of the 2nd finger (HP:0009558) help
........expandBroad distal phalanx of the thumb (HP:0009642) help
........expandBroad distal phalanges of all fingers (HP:0009880) help

 Sister Nodes: 
..expandBroad middle phalanx of finger (HP:0009844) help
..expandBroad phalanges of the 2nd finger (HP:0009547) help
..expandBroad phalanges of the 3rd finger (HP:0009440) help
..expandBroad phalanges of the 4th finger (HP:0009404) help
..expandBroad phalanges of the 5th finger (HP:0009374) help
..expandBroad proximal phalanges of the hand (HP:0009852) help
..expandBroad thumb (HP:0011304) help
..expandExpanded phalanges with widened medullary cavities (HP:0006112) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009836HP:0009836Broad distal phalanx of finger0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0009836HP:0009836Broad distal phalanx of finger0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0009836HP:0009836Broad distal phalanx of finger0FLNB CL E G H2317503ORPHA11225203755603381
HP:0009836HP:0009836Broad distal phalanx of finger0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142726391603213
HP:0009836HP:0009836Broad distal phalanx of finger0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0009836HP:0009836Broad distal phalanx of finger0SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0009836HP:0009836Broad distal phalanx of finger0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
HP:0009836HP:0009836Broad distal phalanx of finger1AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0009836HP:0009836Broad distal phalanx of finger1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0009836HP:0009836Broad distal phalanx of finger1FLNB CL E G H2317503ORPHA11225203755603381
HP:0009836HP:0009836Broad distal phalanx of finger1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142726391603213
HP:0009836HP:0009836Broad distal phalanx of finger1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0009836HP:0009836Broad distal phalanx of finger1SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0009836HP:0009836Broad distal phalanx of finger1WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (14) :AMMECR1 B3GALT6 B3GAT3 CHST3 FGFR2 FLNA FLNB GNAS HOXD13 IFT122 KIF22 RNU4ATAC SMARCA2 WDR19

Diseases (14) :300990 271640 503 603546 2636 3051 614378 245600 101200 311300 79443 79444 113200 218330
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.