FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Meier-Gorlin syndrome ID (Ontology) DOID:0060306 (Human Disease)
Definition A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
Also Known As "ear-patella-short stature syndrome"
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Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 Meier-Gorlin syndrome       1
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  disease
   |__syndrome
       |__Meier-Gorlin syndrome  20 rec.
           |__Meier-Gorlin syndrome 1 1 rec.
           |__Meier-Gorlin syndrome 2 3 rec.
           |__Meier-Gorlin syndrome 3 10 rec.
           |__Meier-Gorlin syndrome 4 1 rec.
           |__Meier-Gorlin syndrome 5 1 rec.
           |__Meier-Gorlin syndrome 6 1 rec.
           |__Meier-Gorlin syndrome 7 1 rec.
           |__Meier-Gorlin syndrome 8 1 rec.
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Synonyms
  • "ear-patella-short stature syndrome" EXACT
Secondary IDs
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GARD:2033
MESH:C538012
MIM:PS224690
ORDO:2554
SNOMEDCT_US_2023_03_01:703508009
UMLS_CUI:C1868684