Aarskog syndrome

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

Wikidata entity: Q303123



P973 described at URL Url None ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q15311768 (FGD1) FGD1
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
P1692 ICD-9-CM String 759.89 ???
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P1199 mode of inheritance ... Q1988987 (X-linked recessive) X-linked recessive
P138 named after ... Q127161 (Dagfinn Aarskog) Dagfinn Aarskog
P138 named after ... Q1064933 (Charles I. Scott) Charles I. Scott
P1748 NCI Thesaurus ID String C129720 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q12136 (disease) disease
P279 subclass of ... Q179630 (syndrome) syndrome
P279 subclass of ... Q1401195 (malformation syndrome) malformation syndrome
P279 subclass of ... Q8041560 (X-linked intellectual disability) X-linked intellectual disability
P279 subclass of ... Q55010090 (X-linked recessive disease) X-linked recessive disease

External Ids
P699Disease Ontology IDDOID:0111824
P557DiseasesDB29329
P4317GARD rare disease ID4775
P7464Genetics Home Reference Conditions IDaarskog-scott-syndrome
P4229ICD-10-CMQ87.1
P7807ICD-11 ID (Foundation)1586518852
P493ICD-9 ID759.89
P665KEGG IDH00569
P604MedlinePlus ID001654
P604MedlinePlus ID001654
P486MeSH descriptor IDC535331
P6366Microsoft Academic ID (discontinued)2776552226
P5270Mondo IDMONDO_0010589
P492OMIM ID100050
P492OMIM ID100050
P492OMIM ID305400
P492OMIM ID305400
P1550Orphanet ID915
P5806SNOMED CT ID14921002
P5082Store medisinske leksikon IDAarskogs_syndrom
P2892UMLS CUIC0175701
P11430UniProt disease IDDI-00012
P11143WikiProjectMed IDAarskog–Scott syndrome

Why not click here or view trends?

log id: 4884461