Preferred Name |
nail-patella syndrome |
|
Synonyms |
Fong disease |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. |
|
ID |
http://purl.obolibrary.org/obo/DOID_9467 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:22199006 UMLS_CUI:C0027341 ICD10CM:Q87.2 OMIM:161200 MEDDRA:10063431 MESH:D009261 GARD:7160 NCI:C75120 ORDO:2614 |
|
has exact synonym |
Fong disease iliac horn syndrome Turner-Kiser syndrome hereditary onychoostedysplasia nail patella syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:9467 |
|
in_subset | ||
label |
nail-patella syndrome |
|
notation |
DOID:9467 |
|
prefLabel |
nail-patella syndrome |
|
textual definition |
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. |
|
subClassOf |