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 the upper limb (HP:0002817)

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Parent Node:
Abnormal upper limb bone morphology (HP:0040070)

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

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..Starting node
..Abnormality of the metacarpal bones (HP:0001163)

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Term ID:

1163

Name:

Abnormality of the metacarpal bones

Synonym:

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Metacarpal osteolysis (HP:0001504)

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................... HP:0010030 Osteolytic defects of the 1st metacarpal

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Abnormality of metacarpal epiphyses (HP:0005913)

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................... HP:0006059 Cone-shaped metacarpal epiphyses
................... HP:0006134 Enlarged metacarpal epiphyses
................... HP:0006146 Broad metacarpal epiphyses
................... HP:0009171 Triangular epiphyses of the metacarpals
................... HP:0009189 Fragmentation of the metacarpal epiphyses
................... HP:0009190 Irregular epiphyses of the metacarpals
................... HP:0009191 Ivory epiphyses of the metacarpals
................... HP:0009193 Pseudoepiphyses of the metacarpals
................... HP:0009194 Small epiphyses of the metacarpals
................... HP:0009195 Epiphyseal stippling of the metacarpals
................... HP:0009196 Absent metacarpal epiphyses
................... HP:0010014 Abnormality of the epiphysis of the 1st metacarpal
................... HP:0200050 Bracket metacarpal epiphyses

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Abnormal metacarpal morphology (HP:0005916)

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................... HP:0001230 Broad metacarpals
................... HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones
................... HP:0006012 Widened metacarpal shaft
................... HP:0006042 Y-shaped metacarpals
................... HP:0006048 Distal widening of metacarpals
................... HP:0006086 Thin metacarpal cortices
................... HP:0006108 Tapered metacarpals
................... HP:0006119 Proximal tapering of metacarpals
................... HP:0006160 Irregular metacarpals
................... HP:0006166 Tubular metacarpal bones
................... HP:0006174 Metacarpal diaphyseal endosteal sclerosis
................... HP:0006232 Expanded metacarpals with widened medullary cavities
................... HP:0006236 Slender metacarpals
................... HP:0009701 Metacarpal synostosis
................... HP:0010493 Long metacarpals
................... HP:0011909 Flattened metacarpal heads
................... HP:0031809 Archibald's sign

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Supernumerary metacarpal bones (HP:0005917)

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................... HP:0001501 6 metacarpals
................... HP:0005894 Double first metacarpals

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Metacarpal periosteal thickening (HP:0006051)

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Abnormality of the 1st metacarpal (HP:0010009)

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................... HP:0009609 Duplication of the 1st metacarpal
................... HP:0009703 Synostosis involving the 1st metacarpal
................... HP:0010014 Abnormality of the epiphysis of the 1st metacarpal
................... HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal
................... HP:0010027 Broad 1st metacarpal
................... HP:0010028 Bullet-shaped 1st metacarpal
................... HP:0010029 Curved 1st metacarpal
................... HP:0010030 Osteolytic defects of the 1st metacarpal
................... HP:0010031 Patchy sclerosis of the 1st metacarpal
................... HP:0010033 Triangular shaped 1st metacarpal

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Abnormality of the 2nd metacarpal (HP:0010010)

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................... HP:0009705 Synostosis involving the 2nd metacarpal
................... HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal
................... HP:0010220 Abnormality of the epiphysis of the 2nd metacarpal

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Abnormality of the 3rd metacarpal (HP:0010011)

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................... HP:0009706 Synostosis involving the 3rd metacarpal
................... HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal
................... HP:0010222 Abnormality of the epiphysis of the 3rd metacarpal

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Abnormality of the 4th metacarpal (HP:0010012)

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................... HP:0009707 Synostosis involving the 4th metacarpal
................... HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal
................... HP:0010224 Abnormality of the epiphysis of the 4th metacarpal

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Abnormality of the 5th metacarpal (HP:0010013)

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................... HP:0005900 Fifth metacarpal with ulnar notch
................... HP:0009708 Synostosis involving the 5th metacarpal
................... HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal
................... HP:0010226 Abnormality of the epiphysis of the 5th metacarpal

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Abnormality of metacarpophalangeal joint (HP:0011911)

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................... HP:0004294 Subluxation of metacarpal phalangeal joints
................... HP:0005880 Metacarpophalangeal synostosis
................... HP:0006070 Metacarpophalangeal joint contracture
................... HP:0006099 Metacarpophalangeal joint hyperextensibility

Sister Nodes:

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Abnormal carpal morphology (HP:0001191)

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Abnormal hand bone ossification (HP:0010660)

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Abnormal hand cortical bone morphology (HP:0005926)

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Abnormal hand diaphysis morphology (HP:0005925)

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Abnormal hand epiphysis morphology (HP:0005924)

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Abnormal hand metaphysis morphology (HP:0005923)

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Abnormal hand morphology (HP:0005922)

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Abnormal palm morphology (HP:0100871)

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Abnormality of dorsoventral patterning of the limbs (HP:0100270)

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Abnormality of finger (HP:0001167)

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Abnormality of hand joint mobility (HP:0006256)

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Abnormality of the musculature of the hand (HP:0001421)

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Aplasia/hypoplasia involving bones of the hand (HP:0005927)

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Autoamputation of digits (HP:0007460)

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Decreased finger mobility (HP:0006135)

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Deviation of the hand or of fingers of the hand (HP:0009484)

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Duplication of hand bones (HP:0004275)

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Exostoses of hand bones (HP:0004276)

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Fractured hand bones (HP:0004277)

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Joint contracture of the hand (HP:0009473)

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Osteolytic defects of the hand bones (HP:0009699)

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Short tubular bones of the hand (HP:0001248)

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Split hand (HP:0001171)

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Synostosis involving bones of the hand (HP:0004278)

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Ulnar claw (HP:0001178)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001163	HP:0001163	Abnormality of the metacarpal bones	0	CL E G H

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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