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(Q55785013)
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microcephaly-congenital cataract-psoriasiform dermatitis syndrome
human disease
MCCPD
SMO deficiency
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Sterol-C4-methyl oxidase deficiency
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
rare disease
0 references
class of disease
0 references
subclass of
genetic epidermal disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
rare genetic developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
syndromic dyslipidemia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
other epidermal disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
sterol biosynthesis disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
syndromic cataract
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
genetic association
MSMO1
2 references
stated in
UniProt
UniProt protein ID
Q15800
retrieved
13 August 2019
stated in
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
exact match
http://www.orpha.net/ORDO/Orphanet_488168
0 references
Identifiers
Mondo ID
MONDO_0014793
0 references
OMIM ID
616834
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
Orphanet ID
488168
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
UMLS CUI
C4225189
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014793
C5567510
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-04663
0 references
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