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Prader-Willi-like syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018354

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. [ Orphanet:398073 ]

Term info

database cross reference
  • UMLS:CN226094 (MONDO:equivalentTo)
  • Orphanet:398073 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226094, http://purl.obolibrary.org/obo/Orphanet_398073

id

MONDO:0018354