loading...| Preferred Name |
Ellis-Van Creveld syndrome |
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| Synonyms |
Chondroectodermal dysplasia |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12714 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
ICD10CM:Q77.6 UMLS_CUI:C0013903 SNOMEDCT_US_2023_03_01:62501005 OMIM:225500 MESH:D004613 ICD9CM:756.55 GARD:1301 NCI:C84684 |
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| has exact synonym |
Chondroectodermal dysplasia mesoectodermal dysplasia |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:12714 |
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| in_subset | ||
| label |
Ellis-Van Creveld syndrome |
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| notation |
DOID:12714 |
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| prefLabel |
Ellis-Van Creveld syndrome |
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| textual definition |
A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. |
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| subClassOf |