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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614325
http://purl.bioontology.org/ontology/OMIM/614325
|
|---|---|
| Preferred Name | PITT-HOPKINS-LIKE SYNDROME 2 |
| Synonyms |
PTHSL2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PTHSL2
|
|---|---|
| prefLabel | PITT-HOPKINS-LIKE SYNDROME 2
|
| Gene Symbol |
PTHSL2
NRXN1
SCZD17
|
| Scope Statement | Three patients have been reported (as of February 2012) [MISCELLANEOUS]
Caused by mutation in the neurexin 1 gene (NRXN1, 600565.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p16.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614325
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280479
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |