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developmental delay with short stature, dysmorphic facial features, and sparse hair 1

^ http://purl.obolibrary.org/obo/MONDO_0800438

Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:459061 (MONDO:equivalentTo)
  • UMLS:C4310801 (MONDO:ncbi_mim2gene_medline)
  • OMIM:616901 (Orphanet:459061/e)
Subsets

ordo_malformation_syndrome

abbreviation
DEDSSH1 [ OMIM:616901 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_459061, https://omim.org/entry/616901, http://linkedlifedata.com/resource/umls/id/C4310801

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0018454, http://purl.obolibrary.org/obo/MONDO_0000508

has broad synonym

developmental delay-short stature-dysmorphic features-sparse hair syndrome, developmental delay with short stature, dysmorphic facial features, and sparse hair

has exact synonym

developmental delay with short stature, dysmorphic features, and sparse hair 1, DEDSSH1, diphtamide deficiency syndrome

has related synonym

Loucks-Innes syndrome

id

MONDO:0800438