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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607721
http://purl.bioontology.org/ontology/OMIM/607721
|
|---|---|
| Preferred Name | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 |
| Synonyms |
TOSTI SYNDROME
MAZZANTI SYNDROME
NSLH1
NSLH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TOSTI SYNDROME
MAZZANTI SYNDROME
NSLH1
NSLH
|
|---|---|
| prefLabel | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
| Gene Symbol |
SOC2
SIAA0862
SUR8
SHOC2
NSLH1
|
| Scope Statement | Intra- and interfamilial clinical variability [MISCELLANEOUS]
Caused by mutation in homolog of the C. elegans suppressor of clear gene (SHOC2, 602775.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607721
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4478716
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |