GAPO syndrome

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

Wikidata entity: Q5512866



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18047441 (ANTXR1) ANTXR1
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P279 subclass of ... Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) multiple congenital anomalies/dysmorphic syndrome-intellectual disability
P279 subclass of ... Q55785406 (malformation syndrome with odontal and/or periodontal component) malformation syndrome with odontal and/or periodontal component
P279 subclass of ... Q55785866 (genetic syndromic intellectual disability) genetic syndromic intellectual disability
P279 subclass of ... Q55788215 (syndromic hereditary optic neuropathy) syndromic hereditary optic neuropathy

External Ids
P4317GARD rare disease ID2573
P4317GARD rare disease ID400
P4229ICD-10-CMQ87.8
P7807ICD-11 ID (Foundation)909165198
P6366Microsoft Academic ID (discontinued)2776728694
P5270Mondo IDMONDO_0009263
P492OMIM ID230740
P492OMIM ID230740
P1550Orphanet ID2067
P2892UMLS CUIC0406723
P11430UniProt disease IDDI-03790

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