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alopecia - contractures - dwarfism - intellectual disability syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008754

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. [ Orphanet:1005 ]

Term info

database cross reference
  • UMLS:C0795895 (Orphanet:1005/e)
  • GARD:0000605 (MONDO:equivalentTo)
  • OMIM:203550 (Orphanet:1005/e)
  • Orphanet:1005 (OMIM:203550)
  • MESH:C537051 (Orphanet:1005/e)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
ACD mental retardation syndrome [ OMIM:203550 ]

A synonym that is historic and discouraged
alopecia-contractures-dwarfism mental retardation syndrome [ OMIM:203550 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.

exactMatch

http://identifiers.org/mesh/C537051, http://linkedlifedata.com/resource/umls/id/C0795895, http://purl.obolibrary.org/obo/Orphanet_1005, https://omim.org/entry/203550

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

ACD-intellectual disability syndrome

has related synonym

alopecia-contractures-dwarfism mental retardation syndrome, alopecia-contractures-dwarfism intellectual disability syndrome, ACD intellectual disability syndrome, ACD mental retardation syndrome

id

MONDO:0008754

seeAlso

https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome

Term relations