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Preferred Name

46,XY SEX REVERSAL 4
Synonyms

SRXY4
ID

http://purl.bioontology.org/ontology/OMIM/154230
altLabel

SRXY4

CHROMOSOME 9p24.3 DELETION SYNDROME

46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION
cui

C2752149
Gene Locus

9p24.3
Gene Symbol

SRXY4

DEL9p24.3

C9DELp24.3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU073473

http://purl.bioontology.org/ontology/OMIM/MTHU073471

http://purl.bioontology.org/ontology/OMIM/MTHU073477

http://purl.bioontology.org/ontology/OMIM/MTHU073475

http://purl.bioontology.org/ontology/OMIM/MTHU073469

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU014910

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU073476

http://purl.bioontology.org/ontology/OMIM/MTHU073468

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU073474

http://purl.bioontology.org/ontology/OMIM/MTHU073472

http://purl.bioontology.org/ontology/OMIM/MTHU073478

http://purl.bioontology.org/ontology/OMIM/MTHU073470

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU036885

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU000264

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU073467
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

273350
notation

154230
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

46,XY SEX REVERSAL 4
Scope Statement

46,XY patients vary from complete female external genitalia to ambiguous genitalia to male-type external genitalia with hypospadias [MISCELLANEOUS]

Contiguous gene deletion syndrome caused by deletion of 9p24.3 [MOLECULAR BASIS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007938 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132270 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C567887 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C567887 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0111771 Human Disease Ontology / 人类疾病本体 LOOM