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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | DELAYED PUBERTY, SELF-LIMITED | |
| Synonyms |
CONSTITUTIONAL DELAY OF PUBERTY DPSL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/619613 |
|
| altLabel |
CONSTITUTIONAL DELAY OF PUBERTY DPSL
|
|
| cui |
C2874202
|
|
| Gene Locus |
11p14.1
|
|
| Gene Symbol |
LGR4 BNMD17 GPR48 DPSL
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU074387 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU036721 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
619613
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
DELAYED PUBERTY, SELF-LIMITED
|
|
| Scope Statement |
Caused by mutation in the leucine-rich repeat-containing G protein-coupled receptor-4 gene (LGR4, 606666.0002) [MOLECULAR BASIS] Affected individuals have normal fertility [MISCELLANEOUS] Gonadotropin and testosterone levels normalize by age 18 years [MISCELLANEOUS] Based on study of 6 male probands [MISCELLANEOUS] Affected females have also been reported. Affected individuals undergo puberty by age 18 years [MISCELLANEOUS]
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|
| tui |
T047
|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/ICD10CM/E30.0 | ICD10CM | CUI |
| http://purl.obolibrary.org/obo/MONDO_0859205 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0859205 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0859205 | EFO | LOOM |