Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal digit morphology (HP:0011297)

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormality of finger (HP:0001167)

..Starting node
..Abnormal finger phalanx morphology (HP:0005918)

Term ID:	5918
Name:	Abnormal finger phalanx morphology
Synonym:	Abnormal form of phalanges of the hand; Abnormality of phalanx of finger; Abnormality of the finger bones; Abnormality of the phalanges; Abnormality of the phalanges of the hand
Definition:	Abnormalities affecting the phalanx of finger.
Comments:
Reference:	HP:0005918
Genes and Diseases:	There are 734 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the phalanges of the 5th finger (HP:0004213) ................... HP:0004214 Curved phalanges of the 5th finger ................... HP:0004216 Osteolytic defects of the phalanges of the 5th finger ................... HP:0004218 Symphalangism of the 5th finger ................... HP:0004219 Abnormality of the middle phalanx of the 5th finger ................... HP:0004225 Abnormality of the distal phalanx of the 5th finger ................... HP:0009150 Abnormality of the proximal phalanx of the 5th finger ................... HP:0009374 Broad phalanges of the 5th finger ................... HP:0009375 Bullet-shaped phalanges of the 5th finger ................... HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger ................... HP:0009378 Triangular shaped phalanges of the 5th finger ................... HP:0009985 Duplication of phalanx of 5th finger ................... HP:0100921 Sclerosis of 5th finger phalanx
........Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) ................... HP:0006140 Premature fusion of phalangeal epiphyses ................... HP:0006213 Thin proximal phalanges with broad epiphyses of the hand ................... HP:0006263 Abnormality of the epiphyses of the 2nd finger ................... HP:0009152 Abnormality of the epiphyses of the 5th finger ................... HP:0009174 Abnormality of the epiphyses of the 4th finger ................... HP:0009320 Abnormality of the epiphyses of the 3rd finger ................... HP:0009599 Abnormality of thumb epiphysis ................... HP:0010228 Absent epiphyses of the phalanges of the hand ................... HP:0010229 Bracket epiphyses of the phalanges of the hand ................... HP:0010230 Cone-shaped epiphyses of the phalanges of the hand ................... HP:0010231 Enlarged epiphyses of the phalanges of the hand ................... HP:0010232 Fragmentation of the epiphyses of the phalanges of the hand ................... HP:0010233 Irregular epiphyses of the phalanges of the hand ................... HP:0010234 Ivory epiphyses of the phalanges of the hand ................... HP:0010235 Pseudoepiphyses of the phalanges of the hand ................... HP:0010236 Small epiphyses of the phalanges of the hand ................... HP:0010237 Epiphyseal stippling of finger phalanges ................... HP:0010238 Triangular epiphyses of the phalanges of the hand ................... HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger ................... HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand ................... HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand
........Long phalanx of finger (HP:0006155) ................... HP:0006127 Long proximal phalanx of finger
........Tapered phalanx of finger (HP:0006192)
........Irregular phalanges (HP:0006205)
........Phalangeal dislocation (HP:0006243) ................... HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger
........Abnormality of phalangeal joints of the hand (HP:0006261) ................... HP:0004267 Narrow small joints of the hand ................... HP:0004268 Osteoarthritis of the small joints of the hand ................... HP:0004269 Subluxation of the small joints of the hand ................... HP:0006019 Reduced proximal interphalangeal joint space ................... HP:0006064 Limited interphalangeal movement ................... HP:0006162 Soft tissue swelling of interphalangeal joints ................... HP:0006163 Enlarged metacarpophalangeal joints ................... HP:0006217 Limited mobility of proximal interphalangeal joint ................... HP:0006237 Prominent interphalangeal joints ................... HP:0006247 Enlarged interphalangeal joints ................... HP:0006252 Interphalangeal joint erosions ................... HP:0006253 Swelling of proximal interphalangeal joints ................... HP:0100490 Camptodactyly of finger
........Abnormality of the phalanges of the 4th finger (HP:0009172) ................... HP:0004195 Osteolytic defects of the phalanges of the 4th finger ................... HP:0004197 Symphalangism of the 4th finger ................... HP:0009282 Abnormality of the distal phalanx of the 4th finger ................... HP:0009283 Abnormality of the middle phalanx of the 4th finger ................... HP:0009284 Abnormality of the proximal phalanx of the 4th finger ................... HP:0009285 Curved phalanges of the 4th finger ................... HP:0009404 Broad phalanges of the 4th finger ................... HP:0009405 Bullet-shaped phalanges of the 4th finger ................... HP:0009407 Triangular shaped phalanges of the 4th finger ................... HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger ................... HP:0009972 Duplication of phalanx of 4th finger ................... HP:0100920 Sclerosis of 4th finger phalanx
........Abnormality of the phalanges of the 3rd finger (HP:0009316) ................... HP:0004172 Abnormality of the middle phalanx of the 3rd finger ................... HP:0009357 Abnormality of the distal phalanx of the 3rd finger ................... HP:0009358 Abnormality of the proximal phalanx of the 3rd finger ................... HP:0009440 Broad phalanges of the 3rd finger ................... HP:0009441 Bullet-shaped phalanges of the 3rd finger ................... HP:0009442 Curved phalanges of the 3rd finger ................... HP:0009443 Osteolytic defects of the phalanges of the 3rd finger ................... HP:0009445 Symphalangism of the 3rd finger ................... HP:0009446 Triangular shaped phalanges of the 3rd finger ................... HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger ................... HP:0009959 Duplication of phalanx of 3rd finger ................... HP:0100919 Sclerosis of 3rd finger phalanx
........Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767) ................... HP:0005886 Aphalangy of the hands ................... HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger ................... HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger ................... HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger ................... HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger ................... HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb ................... HP:0009802 Aplasia of the phalanges of the hand ................... HP:0009803 Short phalanx of finger ................... HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand ................... HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand ................... HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand
........Broad phalanges of the hand (HP:0009768) ................... HP:0006112 Expanded phalanges with widened medullary cavities ................... HP:0009374 Broad phalanges of the 5th finger ................... HP:0009404 Broad phalanges of the 4th finger ................... HP:0009440 Broad phalanges of the 3rd finger ................... HP:0009547 Broad phalanges of the 2nd finger ................... HP:0009836 Broad distal phalanx of finger ................... HP:0009844 Broad middle phalanx of finger ................... HP:0009852 Broad proximal phalanges of the hand ................... HP:0011304 Broad thumb
........Bullet-shaped phalanges of the hand (HP:0009769) ................... HP:0009375 Bullet-shaped phalanges of the 5th finger ................... HP:0009405 Bullet-shaped phalanges of the 4th finger ................... HP:0009441 Bullet-shaped phalanges of the 3rd finger ................... HP:0009548 Bullet-shaped phalanges of the 2nd finger ................... HP:0009652 Bullet-shaped thumb phalanx ................... HP:0009837 Bullet-shaped distal phalanges of the hand ................... HP:0009845 Bullet-shaped middle phalanges of the hand ................... HP:0009853 Bullet-shaped proximal phalanges of the hand
........Curved phalanges of the hand (HP:0009770) ................... HP:0004214 Curved phalanges of the 5th finger ................... HP:0009285 Curved phalanges of the 4th finger ................... HP:0009442 Curved phalanges of the 3rd finger ................... HP:0009549 Curved phalanges of the 2nd finger ................... HP:0009653 Curved thumb phalanx ................... HP:0009838 Curved distal phalanges of the hand ................... HP:0009846 Curved middle phalanges of the hand ................... HP:0009854 Curved proximal phalanges of the hand
........Osteolytic defects of the phalanges of the hand (HP:0009771) ................... HP:0004195 Osteolytic defects of the phalanges of the 4th finger ................... HP:0004216 Osteolytic defects of the phalanges of the 5th finger ................... HP:0009443 Osteolytic defects of the phalanges of the 3rd finger ................... HP:0009550 Osteolytic defects of the phalanges of the 2nd finger ................... HP:0009654 Osteolytic defect of thumb phalanx ................... HP:0009839 Osteolytic defects of the distal phalanges of the hand ................... HP:0009847 Osteolytic defects of the middle phalanges of the hand ................... HP:0009855 Osteolytic defects of the proximal phalanges of the hand
........Symphalangism affecting the phalanges of the hand (HP:0009773) ................... HP:0001204 Distal symphalangism of hands ................... HP:0004197 Symphalangism of the 4th finger ................... HP:0004218 Symphalangism of the 5th finger ................... HP:0006147 Progressive fusion 2nd-5th pip joints ................... HP:0006152 Proximal symphalangism of hands ................... HP:0006187 Fusion of midphalangeal joints ................... HP:0009445 Symphalangism of the 3rd finger ................... HP:0009545 Symphalangism of the 2nd finger ................... HP:0009849 Symphalangism of middle phalanx of finger ................... HP:0009857 Symphalangism affecting the proximal phalanges of the hand
........Triangular shaped phalanges of the hand (HP:0009774) ................... HP:0009378 Triangular shaped phalanges of the 5th finger ................... HP:0009407 Triangular shaped phalanges of the 4th finger ................... HP:0009446 Triangular shaped phalanges of the 3rd finger ................... HP:0009541 Abnormality of the phalanges of the 2nd finger ................... HP:0009602 Abnormality of thumb phalanx ................... HP:0009850 Triangular shaped middle phalanges of the hand ................... HP:0009858 Triangular shaped proximal phalanges of the hand ................... HP:0009875 Triangular shaped distal phalanges of the hand
........Abnormality of the distal phalanx of finger (HP:0009832) ................... HP:0001204 Distal symphalangism of hands ................... HP:0006129 Drumstick terminal phalanges ................... HP:0006170 Chess-pawn distal phalanges ................... HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand ................... HP:0009836 Broad distal phalanx of finger ................... HP:0009837 Bullet-shaped distal phalanges of the hand ................... HP:0009838 Curved distal phalanges of the hand ................... HP:0009839 Osteolytic defects of the distal phalanges of the hand ................... HP:0009875 Triangular shaped distal phalanges of the hand ................... HP:0009883 Duplication of the distal phalanx of hand ................... HP:0009884 Tapered distal phalanges of finger ................... HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger ................... HP:0012296 Slender distal phalanx of finger ................... HP:0012299 Long distal phalanx of finger ................... HP:0100915 Sclerosis of distal finger phalanx
........Abnormality of the middle phalanges of the hand (HP:0009833) ................... HP:0005844 Rounded middle phalanx of finger ................... HP:0006193 Thimble-shaped middle phalanges of hand ................... HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand ................... HP:0009844 Broad middle phalanx of finger ................... HP:0009845 Bullet-shaped middle phalanges of the hand ................... HP:0009846 Curved middle phalanges of the hand ................... HP:0009847 Osteolytic defects of the middle phalanges of the hand ................... HP:0009849 Symphalangism of middle phalanx of finger ................... HP:0009850 Triangular shaped middle phalanges of the hand ................... HP:0010008 Duplication of the middle phalanx of hand ................... HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand ................... HP:0012295 Slender middle phalanx of finger ................... HP:0012298 Long middle phalanx of finger ................... HP:0100916 Sclerosis of middle finger phalanx
........Abnormality of the proximal phalanges of the hand (HP:0009834) ................... HP:0006060 Tombstone-shaped proximal phalanges ................... HP:0006127 Long proximal phalanx of finger ................... HP:0006175 Proximal phalangeal periosteal thickening ................... HP:0006213 Thin proximal phalanges with broad epiphyses of the hand ................... HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand ................... HP:0009852 Broad proximal phalanges of the hand ................... HP:0009853 Bullet-shaped proximal phalanges of the hand ................... HP:0009854 Curved proximal phalanges of the hand ................... HP:0009855 Osteolytic defects of the proximal phalanges of the hand ................... HP:0009857 Symphalangism affecting the proximal phalanges of the hand ................... HP:0009858 Triangular shaped proximal phalanges of the hand ................... HP:0010008 Duplication of the middle phalanx of hand ................... HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand ................... HP:0012297 Slender proximal phalanx of finger ................... HP:0100917 Sclerosis of proximal finger phalanx
........Duplication of phalanx of hand (HP:0009997) ................... HP:0001161 Hand polydactyly ................... HP:0009883 Duplication of the distal phalanx of hand ................... HP:0009942 Duplication of thumb phalanx ................... HP:0009985 Duplication of phalanx of 5th finger ................... HP:0009998 Complete duplication of phalanx of hand ................... HP:0009999 Partial duplication of the phalanx of hand ................... HP:0010006 Duplication of the proximal phalanx of hand ................... HP:0010008 Duplication of the middle phalanx of hand
........Partial absence of finger (HP:0011299)
........Finger hyperphalangy (HP:0030367) ................... HP:0030368 Hyperphalangy of the 2nd finger ................... HP:0031010 Hyperphalangy of the 3rd finger
........Sclerosis of finger phalanx (HP:0100899) ................... HP:0009772 Patchy sclerosis of finger phalanx ................... HP:0010234 Ivory epiphyses of the phalanges of the hand ................... HP:0100915 Sclerosis of distal finger phalanx ................... HP:0100916 Sclerosis of middle finger phalanx ................... HP:0100917 Sclerosis of proximal finger phalanx ................... HP:0100918 Sclerosis of 2nd finger phalanx ................... HP:0100919 Sclerosis of 3rd finger phalanx ................... HP:0100920 Sclerosis of 4th finger phalanx ................... HP:0100921 Sclerosis of 5th finger phalanx ................... HP:0100922 Sclerosis of thumb phalanx
Sister Nodes:
..Abnormal 2nd finger morphology (HP:0004100)
..Abnormal 3rd finger morphology (HP:0004150)
..Abnormal 4th finger morphology (HP:0004188)
..Abnormal 5th finger morphology (HP:0004207)
..Abnormal finger flexion creases (HP:0006143)
..Abnormal fingertip morphology (HP:0001211)
..Abnormal thumb morphology (HP:0001172)
..Aplasia/Hypoplasia of fingers (HP:0006265)
..Broad finger (HP:0001500)
..Chilblains (HP:0009710)
..Curved fingers (HP:0004095)
..Deviation of finger (HP:0004097)
..Finger dactylitis (HP:0031090)
..Finger joint hypermobility (HP:0006094)
..Finger swelling (HP:0025131)
..Long fingers (HP:0100807)
..Macrodactyly of finger (HP:0100746)
..Mallet finger (HP:0030771)
..Slender finger (HP:0001238)
..Spindle-shaped finger (HP:0031092)
..Splayed fingers (HP:0030029)
..Swan neck-like deformities of the fingers (HP:0006150)
..Trident hand (HP:0004060)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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