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

Human Phenotype Ontology

Grandparent Node:
Abnormality of limbs (HP:0040064)

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

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..Starting node
..Abnormality of the hand (HP:0001155)

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Term ID:	1155
Name:	Abnormality of the hand
Synonym:	Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities
Definition:	An abnormality affecting one or both hands.
Comments:
Reference:	HP:0001155
Genes and Diseases:	There are 1147 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the metacarpal bones (HP:0001163) ................... HP:0001504 Metacarpal osteolysis ................... HP:0005913 Abnormality of metacarpal epiphyses ................... HP:0005916 Abnormal metacarpal morphology ................... HP:0005917 Supernumerary metacarpal bones ................... HP:0006051 Metacarpal periosteal thickening ................... HP:0010009 Abnormality of the 1st metacarpal ................... HP:0010010 Abnormality of the 2nd metacarpal ................... HP:0010011 Abnormality of the 3rd metacarpal ................... HP:0010012 Abnormality of the 4th metacarpal ................... HP:0010013 Abnormality of the 5th metacarpal ................... HP:0011911 Abnormality of metacarpophalangeal joint
........Abnormality of finger (HP:0001167) ................... HP:0001172 Abnormality of the thumb ................... HP:0001211 Abnormality of the fingertips ................... HP:0001238 Slender finger ................... HP:0001500 Broad finger ................... HP:0004060 Trident hand ................... HP:0004095 Curved fingers ................... HP:0004097 Deviation of finger ................... HP:0004100 Abnormality of the 2nd finger ................... HP:0004150 Abnormality of the 3rd finger ................... HP:0004188 Abnormality of the 4th finger ................... HP:0004207 Abnormality of the 5th finger ................... HP:0005918 Abnormality of phalanx of finger ................... HP:0006094 Finger joint hypermobility ................... HP:0006143 Abnormal finger flexion creases ................... HP:0006150 Swan neck-like deformities of the fingers ................... HP:0006265 Aplasia/Hypoplasia of fingers ................... HP:0009710 Chilblain lesions ................... HP:0025131 Finger swelling ................... HP:0030029 Splayed fingers ................... HP:0030771 Mallet finger ................... HP:0031090 Finger dactylitis ................... HP:0031092 Spindle-shaped finger ................... HP:0100746 Macrodactyly of finger ................... HP:0100807 Long fingers
........Split hand (HP:0001171)
........Ulnar claw (HP:0001178)
........Abnormality of the carpal bones (HP:0001191) ................... HP:0001495 Carpal osteolysis ................... HP:0004232 Accessory carpal bones ................... HP:0004239 Proximally placed carpal bones ................... HP:0004243 Abnormality of the scaphoid ................... HP:0004248 Abnormality of the lunate bone ................... HP:0004252 Abnormality of the trapezium ................... HP:0004256 Abnormality of the trapezoid bone ................... HP:0004259 Abnormality of the hamate bone ................... HP:0004262 Abnormality of the capitate bone ................... HP:0004264 Narrow carpal joint spaces ................... HP:0005776 Carpal bone malsegmentation ................... HP:0006014 Abnormally shaped carpal bones ................... HP:0006092 Malaligned carpal bone ................... HP:0006180 Crowded carpal bones ................... HP:0006257 Abnormality of carpal bone ossification ................... HP:0006502 Aplasia/Hypoplasia involving the carpal bones ................... HP:0009702 Carpal synostosis
........Short tubular bones of the hand (HP:0001248)
........Abnormality of the musculature of the hand (HP:0001421) ................... HP:0001227 Abnormality of the thenar eminence ................... HP:0006006 Hypotrophy of the small hand muscles ................... HP:0009005 Weakness of the intrinsic hand muscles ................... HP:0009130 Hand muscle atrophy ................... HP:0010486 Abnormality of the hypothenar eminence ................... HP:0030237 Hand muscle weakness
........Duplication of hand bones (HP:0004275) ................... HP:0004232 Accessory carpal bones ................... HP:0009997 Duplication of phalanx of hand
........Exostoses of hand bones (HP:0004276)
........Fractured hand bones (HP:0004277)
........Synostosis involving bones of the hand (HP:0004278) ................... HP:0009700 Finger symphalangism ................... HP:0009701 Metacarpal synostosis ................... HP:0009702 Carpal synostosis
........Abnormal hand morphology (HP:0005922) ................... HP:0001176 Large hands ................... HP:0001188 Hand clenching ................... HP:0004057 Mitten deformity ................... HP:0004095 Curved fingers ................... HP:0004284 Notched hand bones ................... HP:0004285 Overmodelled hand bones ................... HP:0004287 Pointed hand bones ................... HP:0004292 Undermodelled hand bones ................... HP:0006228 Valgus hand deformity ................... HP:0009381 Short finger ................... HP:0010557 Overlapping fingers
........Abnormalities of the metaphyses of the hand (HP:0005923) ................... HP:0004273 Cupped metaphyses of hand bones
........Abnormality of the epiphyses of the hand (HP:0005924) ................... HP:0004288 Pseudoepiphyses of hand bones ................... HP:0005913 Abnormality of metacarpal epiphyses ................... HP:0005920 Abnormality of the epiphyses of the phalanges of the hand ................... HP:0006026 Rounded epiphyses
........Abnormalities of the diaphyses of the hand (HP:0005925)
........Abnormality of hand cortical bone (HP:0005926) ................... HP:0004271 Cortical thickening of hand bones ................... HP:0004272 Cortical thinning of hand bones
........Aplasia/hypoplasia involving bones of the hand (HP:0005927) ................... HP:0004050 Absent hand ................... HP:0004279 Short palm ................... HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones ................... HP:0006265 Aplasia/Hypoplasia of fingers ................... HP:0006502 Aplasia/Hypoplasia involving the carpal bones ................... HP:0200055 Small hand
........Decreased finger mobility (HP:0006135) ................... HP:0006169 Decreased mobility 3rd-5th fingers ................... HP:0006203 Decreased movement range in interphalangeal joints
........Abnormality of hand joint mobility (HP:0006256) ................... HP:0006094 Finger joint hypermobility
........Autoamputation of digits (HP:0007460) ................... HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits ................... HP:0006121 Acral ulceration leading to autoamputation of digits
........Joint contracture of the hand (HP:0009473) ................... HP:0005679 Dupuytren contracture ................... HP:0012785 Flexion contracture of finger ................... HP:0030233 Bethlem sign
........Deviation of the hand or of fingers of the hand (HP:0009484) ................... HP:0001193 Ulnar deviation of the hand or of fingers of the hand ................... HP:0004097 Deviation of finger ................... HP:0009485 Radial deviation of the hand or of fingers of the hand
........Osteolytic defects of the hand bones (HP:0009699) ................... HP:0006202 Osteolysis of scaphoids ................... HP:0009771 Osteolytic defects of the phalanges of the hand
........Abnormal hand bone ossification (HP:0010660) ................... HP:0004051 Advanced ossification of the hand bones ................... HP:0004052 Delayed ossification of the hand bones ................... HP:0004053 Dysharmonic maturation of the hand bones ................... HP:0004274 Deficient ossification of hand bones ................... HP:0004280 Irregular ossification of hand bones ................... HP:0006257 Abnormality of carpal bone ossification ................... HP:0009195 Epiphyseal stippling of the metacarpals ................... HP:0010237 Epiphyseal stippling of finger phalanges
........Abnormality of dorsoventral patterning of the limbs (HP:0100270)
........Abnormality of the palm (HP:0100871) ................... HP:0001169 Broad palm ................... HP:0004279 Short palm ................... HP:0004283 Narrow palm ................... HP:0007576 Palmar neurofibromas ................... HP:0011302 Long palm ................... HP:0040211 Abnormality of the skin of the palm
Sister Nodes:
..Abnormal arm span (HP:0012769)
..Abnormal forearm morphology (HP:0002973)
..Abnormal upper limb bone morphology (HP:0040070)
..Abnormal upper limb metaphysis morphology (HP:0009809)
..Abnormality of the musculature of the upper limbs (HP:0001446)
..Abnormality of the upper arm (HP:0001454)
..Abnormality of upper limb epiphysis morphology (HP:0003839)
..Abnormality of upper limb joint (HP:0009810)
..Amniotic constriction rings of arms (HP:0010483)
..Anomaly of the upper limb diaphyses (HP:0009808)
..Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)
..Areflexia of upper limbs (HP:0012046)
..Bowing of the arm (HP:0006488)
..Distal upper limb muscle weakness (HP:0008959)
..Duplication of bones involving the upper extremities (HP:0009142)
..Edema of the upper limbs (HP:0010742)
..Hypertrophy of the upper limb (HP:0010484)
..Hyporeflexia of upper limbs (HP:0012391)
..Upper limb asymmetry (HP:0100560)
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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