Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

CHLA_Logo

Hello! Guest! Please Login or Register! Clinician Mode

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

Human Phenotype Ontology

Grandparent Node:
Abnormality of the upper limb (HP:0002817)

help

Parent Node:
Abnormal digit morphology (HP:0011297)

help

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

help

..Starting node
..Abnormality of finger (HP:0001167)

help

Term ID:	1167
Name:	Abnormality of finger
Synonym:	Abnormalities of the fingers; Abnormality of finger
Definition:	An anomaly of a finger.
Comments:
Reference:	HP:0001167
Genes and Diseases:	There are 861 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the thumb (HP:0001172) ................... HP:0001177 Preaxial hand polydactyly ................... HP:0001181 Adducted thumb ................... HP:0009599 Abnormality of thumb epiphysis ................... HP:0009600 Flexion contracture of thumb ................... HP:0009601 Aplasia/Hypoplasia of the thumb ................... HP:0009602 Abnormality of thumb phalanx ................... HP:0009603 Deviation of the thumb
........Abnormality of the fingertips (HP:0001211) ................... HP:0001212 Prominent fingertip pads ................... HP:0011300 Broad fingertip ................... HP:0100759 Clubbing of fingers
........Slender finger (HP:0001238) ................... HP:0001166 Arachnodactyly
........Broad finger (HP:0001500) ................... HP:0009768 Broad phalanges of the hand
........Trident hand (HP:0004060)
........Curved fingers (HP:0004095) ................... 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
........Deviation of finger (HP:0004097) ................... HP:0009179 Deviation of the 5th finger ................... HP:0009273 Deviation of the 4th finger ................... HP:0009317 Deviation of the 3rd finger ................... HP:0009465 Ulnar deviation of finger ................... HP:0009466 Radial deviation of finger ................... HP:0009468 Deviation of the 2nd finger ................... HP:0009603 Deviation of the thumb ................... HP:0010557 Overlapping fingers ................... HP:0040019 Finger clinodactyly
........Abnormality of the 2nd finger (HP:0004100) ................... HP:0006263 Abnormality of the epiphyses of the 2nd finger ................... HP:0006264 Aplasia/Hypoplasia of the 2nd finger ................... HP:0009468 Deviation of the 2nd finger ................... HP:0009537 Flexion contracture of the 2nd finger ................... HP:0009541 Abnormality of the phalanges of the 2nd finger ................... HP:0009946 Polydactyly affecting the 2nd finger
........Abnormality of the 3rd finger (HP:0004150) ................... HP:0009316 Abnormality of the phalanges of the 3rd finger ................... HP:0009317 Deviation of the 3rd finger ................... HP:0009318 Aplasia/Hypoplasia of the 3rd finger ................... HP:0009319 Joint contracture of the 3rd finger ................... HP:0009320 Abnormality of the epiphyses of the 3rd finger ................... HP:0009958 Polydactyly affecting the 3rd finger
........Abnormality of the 4th finger (HP:0004188) ................... HP:0009172 Abnormality of the phalanges of the 4th finger ................... HP:0009174 Abnormality of the epiphyses of the 4th finger ................... HP:0009272 Aplasia/Hypoplasia of the 4th finger ................... HP:0009273 Deviation of the 4th finger ................... HP:0009274 Joint contracture of the 4th finger ................... HP:0009971 Polydactyly affecting the 4th finger
........Abnormality of the 5th finger (HP:0004207) ................... HP:0001162 Postaxial hand polydactyly ................... HP:0004213 Abnormality of the phalanges of the 5th finger ................... HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger ................... HP:0006262 Aplasia/Hypoplasia of the 5th finger ................... HP:0009152 Abnormality of the epiphyses of the 5th finger ................... HP:0009179 Deviation of the 5th finger ................... HP:0009183 Joint contracture of the 5th finger ................... HP:0031534 Passive dorsiflexion of the 5th finger more than 90 degrees
........Abnormality of phalanx of finger (HP:0005918) ................... HP:0004213 Abnormality of the phalanges of the 5th finger ................... HP:0005920 Abnormality of the epiphyses of the phalanges of the hand ................... HP:0006155 Long phalanx of finger ................... HP:0006192 Tapered phalanx of finger ................... HP:0006205 Irregular phalanges ................... HP:0006243 Phalangeal dislocation ................... HP:0006261 Abnormality of phalangeal joints of the hand ................... HP:0009172 Abnormality of the phalanges of the 4th finger ................... HP:0009316 Abnormality of the phalanges of the 3rd finger ................... HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand ................... HP:0009768 Broad phalanges of the hand ................... HP:0009769 Bullet-shaped phalanges of the hand ................... HP:0009770 Curved phalanges of the hand ................... HP:0009771 Osteolytic defects of the phalanges of the hand ................... HP:0009773 Symphalangism affecting the phalanges of the hand ................... HP:0009774 Triangular shaped phalanges of the hand ................... HP:0009832 Abnormality of the distal phalanx of finger ................... HP:0009833 Abnormality of the middle phalanges of the hand ................... HP:0009834 Abnormality of the proximal phalanges of the hand ................... HP:0009997 Duplication of phalanx of hand ................... HP:0011299 Partial absence of finger ................... HP:0030367 Finger hyperphalangy ................... HP:0100899 Sclerosis of finger phalanx
........Finger joint hypermobility (HP:0006094) ................... HP:0001187 Hyperextensibility of the finger joints ................... HP:0006149 Increased laxity of fingers
........Abnormal finger flexion creases (HP:0006143) ................... HP:0001049 Absent dorsal skin creases over affected joints ................... HP:0006109 Absent phalangeal crease
........Swan neck-like deformities of the fingers (HP:0006150)
........Aplasia/Hypoplasia of fingers (HP:0006265) ................... HP:0006165 Proportionate shortening of all digits ................... HP:0006262 Aplasia/Hypoplasia of the 5th finger ................... HP:0006264 Aplasia/Hypoplasia of the 2nd finger ................... HP:0009272 Aplasia/Hypoplasia of the 4th finger ................... HP:0009318 Aplasia/Hypoplasia of the 3rd finger ................... HP:0009380 Aplasia of the fingers ................... HP:0009381 Short finger ................... HP:0009601 Aplasia/Hypoplasia of the thumb ................... HP:0030033 Small finger
........Chilblain lesions (HP:0009710)
........Finger swelling (HP:0025131)
........Splayed fingers (HP:0030029)
........Mallet finger (HP:0030771)
........Finger dactylitis (HP:0031090)
........Spindle-shaped finger (HP:0031092)
........Macrodactyly of finger (HP:0100746)
........Long fingers (HP:0100807) ................... HP:0001166 Arachnodactyly ................... HP:0001182 Tapered finger
Sister Nodes:
..Abnormal carpal morphology (HP:0001191)
..Abnormal hand bone ossification (HP:0010660)
..Abnormal hand cortical bone morphology (HP:0005926)
..Abnormal hand diaphysis morphology (HP:0005925)
..Abnormal hand epiphysis morphology (HP:0005924)
..Abnormal hand metaphysis morphology (HP:0005923)
..Abnormal hand morphology (HP:0005922)
..Abnormal palm morphology (HP:0100871)
..Abnormality of dorsoventral patterning of the limbs (HP:0100270)
..Abnormality of hand joint mobility (HP:0006256)
..Abnormality of the metacarpal bones (HP:0001163)
..Abnormality of the musculature of the hand (HP:0001421)
..Aplasia/hypoplasia involving bones of the hand (HP:0005927)
..Autoamputation of digits (HP:0007460)
..Decreased finger mobility (HP:0006135)
..Deviation of the hand or of fingers of the hand (HP:0009484)
..Duplication of hand bones (HP:0004275)
..Exostoses of hand bones (HP:0004276)
..Fractured hand bones (HP:0004277)
..Joint contracture of the hand (HP:0009473)
..Osteolytic defects of the hand bones (HP:0009699)
..Short tubular bones of the hand (HP:0001248)
..Split hand (HP:0001171)
..Synostosis involving bones of the hand (HP:0004278)
..Ulnar claw (HP:0001178)
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.

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen