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:
Phenotypic abnormality (HP:0000118)

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Parent Node:
Abnormality of limbs (HP:0040064)

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..Starting node
..Abnormality of the upper limb (HP:0002817)

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Term ID:	2817
Name:	Abnormality of the upper limb
Synonym:	Abnormality of the arm; Abnormality of the upper limb
Definition:	An abnormality of the arm.
Comments:
Reference:	HP:0002817
Genes and Diseases:	There are 1527 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the hand (HP:0001155) ................... HP:0001163 Abnormality of the metacarpal bones ................... HP:0001167 Abnormality of finger ................... HP:0001171 Split hand ................... HP:0001178 Ulnar claw ................... HP:0001191 Abnormality of the carpal bones ................... HP:0001248 Short tubular bones of the hand ................... HP:0001421 Abnormality of the musculature of the hand ................... HP:0004275 Duplication of hand bones ................... HP:0004276 Exostoses of hand bones ................... HP:0004277 Fractured hand bones ................... HP:0004278 Synostosis involving bones of the hand ................... HP:0005922 Abnormal hand morphology ................... HP:0005923 Abnormalities of the metaphyses of the hand ................... HP:0005924 Abnormality of the epiphyses of the hand ................... HP:0005925 Abnormalities of the diaphyses of the hand ................... HP:0005926 Abnormality of hand cortical bone ................... HP:0005927 Aplasia/hypoplasia involving bones of the hand ................... HP:0006135 Decreased finger mobility ................... HP:0006256 Abnormality of hand joint mobility ................... HP:0007460 Autoamputation of digits ................... HP:0009473 Joint contracture of the hand ................... HP:0009484 Deviation of the hand or of fingers of the hand ................... HP:0009699 Osteolytic defects of the hand bones ................... HP:0010660 Abnormal hand bone ossification ................... HP:0100270 Abnormality of dorsoventral patterning of the limbs ................... HP:0100871 Abnormality of the palm
........Abnormality of the musculature of the upper limbs (HP:0001446) ................... HP:0001421 Abnormality of the musculature of the hand ................... HP:0001435 Abnormality of the shoulder girdle musculature ................... HP:0001457 Abnormality of the musculature of the upper arm ................... HP:0001467 Aplasia/Hypoplasia involving the musculature of the upper limbs ................... HP:0008997 Proximal muscle weakness in upper limbs ................... HP:0009129 Upper limb amyotrophy ................... HP:0040265 Upper limb muscle hypertrophy ................... HP:0200049 Upper limb hypertonia
........Abnormality of the upper arm (HP:0001454) ................... HP:0001457 Abnormality of the musculature of the upper arm ................... HP:0003063 Abnormality of the humerus
........Abnormality of the forearm (HP:0002973) ................... HP:0003059 Abnormality of the radioulnar joints ................... HP:0003955 Bone-in-a-bone appearance of forearm ................... HP:0005632 Absent forearm ................... HP:0006368 Forearm reduction defects ................... HP:0030267 Calcification of the interosseus membrane of the forearm ................... HP:0040072 Abnormality of forearm bone ................... HP:0100241 Ectopic respiratory mucosa
........Abnormality of upper limb epiphysis morphology (HP:0003839) ................... HP:0003840 Delayed upper limb epiphyseal ossification ................... HP:0003841 Fragmented epiphyses of the upper limbs ................... HP:0003842 Irregular epiphyses of the upper limbs ................... HP:0003843 Round epiphyses of the upper limbs ................... HP:0003844 Small epiphyses of the upper limbs ................... HP:0003846 Wide epiphyseal plates of the upper limbs ................... HP:0003891 Abnormality of the humeral epiphysis ................... HP:0003904 Wide epiphyses of the upper limbs ................... HP:0003946 Abnormality of the epiphyses of the elbow ................... HP:0003999 Abnormality of radial epiphyses ................... HP:0004037 Abnormality of the ulnar epiphyses ................... HP:0005924 Abnormality of the epiphyses of the hand
........Bowing of the arm (HP:0006488) ................... HP:0003865 Bowed humerus ................... HP:0003956 Bowed forearm bones
........Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496) ................... HP:0005927 Aplasia/hypoplasia involving bones of the hand ................... HP:0006503 Aplasia/hypoplasia involving forearm bones ................... HP:0006507 Aplasia/hypoplasia of the humerus ................... HP:0009812 Amelia involving the upper limbs ................... HP:0009813 Upper limb phocomelia ................... HP:0009814 Upper limb peromelia ................... HP:0009823 Aplasia involving bones of the upper limbs ................... HP:0009824 Upper limb undergrowth
........Distal upper limb muscle weakness (HP:0008959)
........Duplication of bones involving the upper extremities (HP:0009142) ................... HP:0004275 Duplication of hand bones
........Anomaly of the upper limb diaphyses (HP:0009808) ................... HP:0003858 Cortical diaphyseal irregularity of the upper limbs ................... HP:0003859 Cortical diaphyseal thickening of the upper limbs ................... HP:0003860 Diaphyseal sclerosis of the upper limbs ................... HP:0003861 Broad diaphyses of the upper limbs ................... HP:0003926 Abnormality of the humeral diaphysis ................... HP:0004027 Abnormality of radial diaphysis ................... HP:0005925 Abnormalities of the diaphyses of the hand
........Abnormality of upper limb metaphysis (HP:0009809) ................... HP:0003848 Cupped metaphyses of the upper limbs ................... HP:0003850 Upper-limb metaphyseal irregularity ................... HP:0003851 Lytic defects in metaphyses of the upper limbs ................... HP:0003852 Normal density transverse bands in metaphyses of the upper limbs ................... HP:0003854 Sclerosis of metaphyses of the upper limbs ................... HP:0003855 Spurred metaphyses of the upper limbs ................... HP:0003856 Upper limb metaphyseal widening ................... HP:0003907 Abnormality of the humeral metaphyses ................... HP:0003949 Abnormality of the elbow metaphyses ................... HP:0004015 Abnormality of radial metaphyses ................... HP:0004039 Abnormality of ulnar metaphysis ................... HP:0005923 Abnormalities of the metaphyses of the hand
........Abnormality of upper limb joint (HP:0009810) ................... HP:0003019 Abnormality of the wrist ................... HP:0009473 Joint contracture of the hand ................... HP:0009811 Abnormality of the elbow ................... HP:0100238 Synostosis involving bones of the upper limbs
........Amniotic constriction rings of arms (HP:0010483)
........Hypertrophy of the upper limb (HP:0010484) ................... HP:0100554 Hemihypertrophy of upper limb
........Edema of the upper limbs (HP:0010742)
........Areflexia of upper limbs (HP:0012046)
........Hyporeflexia of upper limbs (HP:0012391)
........Abnormal arm span (HP:0012769) ................... HP:0012770 Reduced arm span ................... HP:0012771 Increased arm span
........Abnormality of upper limb bone (HP:0040070) ................... HP:0001163 Abnormality of the metacarpal bones ................... HP:0003063 Abnormality of the humerus ................... HP:0040065 Abnormal morphology of bones of the upper limbs ................... HP:0040072 Abnormality of forearm bone ................... HP:0045039 Osteolysis involving bones of the upper limbs
........Upper limb asymmetry (HP:0100560) ................... HP:0100554 Hemihypertrophy of upper limb ................... HP:0100558 Hemiatrophy of upper limb
Sister Nodes:
..Abnormality of limb bone (HP:0040068)
..Abnormality of the lower limb (HP:0002814)
..Abnormality of the musculature of the limbs (HP:0009127)
..Aplasia/hypoplasia of the extremities (HP:0009815)
..Autoamputation (HP:0001218)
..Hemihypertrophy (HP:0001528)
..Limb fasciculations (HP:0007289)
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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