hypotrichosis-intellectual disability, Lopes type

Go to external page http://purl.obolibrary.org/obo/MONDO_0016414


Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. [ Orphanet:2266 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN201347 (MONDO:equivalentTo)
  • Orphanet:2266 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201347

http://www.orpha.net/ORDO/Orphanet_2266

has exact synonym

Lopes-Marques de Faria syndrome

id

MONDO:0016414

Term relations