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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | achondroplasia | |
| Synonyms |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique |
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| Definitions |
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4480 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
UMLS_CUI:C0001080 MESH:D000130 ICD10CM:Q77.4 SNOMEDCT_US_2023_03_01:268273004 GARD:8173 MIM:100800 NCI:C34345
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|
| definition |
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
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| has exact match |
MESH:D000130
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| has exact synonym |
Chondrodystrophia osteosclerosis congenita Achondroplastic physique
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| has_obo_namespace |
disease_ontology
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| id |
DOID:4480
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| in_subset | ||
| label |
achondroplasia
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|
| notation |
DOID:4480
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| prefLabel |
achondroplasia
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| subClassOf |
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