Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Grandparent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009836HP:0009836Broad distal phalanx of finger0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0009836HP:0009836Broad distal phalanx of finger0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0009836HP:0009836Broad distal phalanx of finger0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0009836HP:0009836Broad distal phalanx of finger0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0009836HP:0009836Broad distal phalanx of finger0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0009836HP:0009836Broad distal phalanx of finger0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009836HP:0009836Broad distal phalanx of finger0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0009836HP:0009836Broad distal phalanx of finger0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0009836HP:0009836Broad distal phalanx of finger0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009836HP:0009836Broad distal phalanx of finger0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009836HP:0009836Broad distal phalanx of finger0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0009836HP:0009836Broad distal phalanx of finger0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0009836HP:0009836Broad distal phalanx of finger0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009836HP:0009836Broad distal phalanx of finger0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0009836HP:0009836Broad distal phalanx of finger0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0009836HP:0009836Broad distal phalanx of finger0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0009836HP:0009836Broad distal phalanx of finger0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0009836HP:0009836Broad distal phalanx of finger0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0009836HP:0009836Broad distal phalanx of finger0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0009836HP:0009836Broad distal phalanx of finger0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0009836HP:0009836Broad distal phalanx of finger0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009836HP:0009836Broad distal phalanx of finger0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0009836HP:0009836Broad distal phalanx of finger0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0009836HP:0009836Broad distal phalanx of finger0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009836HP:0009836Broad distal phalanx of finger0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0009836HP:0009836Broad distal phalanx of finger0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0009836HP:0009836Broad distal phalanx of finger0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0009836HP:0009836Broad distal phalanx of finger0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0009836HP:0009836Broad distal phalanx of finger0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0009836HP:0009836Broad distal phalanx of finger0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0009836HP:0009836Broad distal phalanx of finger0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0009836HP:0009836Broad distal phalanx of finger0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0009836HP:0009558Broad distal phalanx of the 2nd finger1 CL E G H
HP:0009836HP:0009422Broad distal phalanx of the 3rd finger1 CL E G H
HP:0009836HP:0009292Broad distal phalanx of the 4th finger1 CL E G H
HP:0009836HP:0009240Broad distal phalanx of the 5th finger1 CL E G H
HP:0009836HP:0009880Broad distal phalanges of all fingers1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0009836HP:0009880Broad distal phalanges of all fingers1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0009836HP:0009642Broad distal phalanx of the thumb1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0009836HP:0009642Broad distal phalanx of the thumb1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009836HP:0009642Broad distal phalanx of the thumb1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0009836HP:0009642Broad distal phalanx of the thumb1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0009836HP:0009642Broad distal phalanx of the thumb1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25
HP:0009836HP:0009880Broad distal phalanges of all fingers1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93


Genes (24) :AMMECR1 B3GALT6 B3GAT3 CHST3 CREBBP DLK1 EP300 FGFR2 FLNA FLNB GATAD2B GNAS GPC4 HOXD13 HS2ST1 IFT122 KIF22 MEG3 RNU4ATAC RTL1 SETD5 SMARCA2 WDR19 WLS

Diseases (28) :OMIM:300990 OMIM:609465 OMIM:271640 OMIM:245600 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:96334 ORPHA:353284 OMIM:101200 OMIM:311300 ORPHA:503 ORPHA:363686 ORPHA:79443 ORPHA:79444 ORPHA:2662 OMIM:301026 OMIM:113200 OMIM:619194 OMIM:218330 OMIM:603546 ORPHA:2636 ORPHA:404440 OMIM:615761 OMIM:601358 ORPHA:3051 OMIM:614378 OMIM:619648
 

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