Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

SACRAL DEFECT WITH ANTERIOR MENINGOCELE

Synonyms

SDAM

ID

http://purl.bioontology.org/ontology/OMIM/600145

altLabel

SDAM

SIRENOMELIA

CAUDAL DYSGENESIS SYNDROME

CAUDAL REGRESSION SYNDROME

SACRAL AGENESIS

cui

C0344490

C0300948

C0037205

C1838568

Gene Locus

1p13

Gene Symbol

VANGL1

STBM2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022580

http://purl.bioontology.org/ontology/OMIM/MTHU022572

http://purl.bioontology.org/ontology/OMIM/MTHU022581

http://purl.bioontology.org/ontology/OMIM/MTHU022570

http://purl.bioontology.org/ontology/OMIM/MTHU022582

http://purl.bioontology.org/ontology/OMIM/MTHU022574

http://purl.bioontology.org/ontology/OMIM/MTHU038366

http://purl.bioontology.org/ontology/OMIM/MTHU022583

http://purl.bioontology.org/ontology/OMIM/MTHU038367

http://purl.bioontology.org/ontology/OMIM/MTHU022576

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU022585

http://purl.bioontology.org/ontology/OMIM/MTHU022571

http://purl.bioontology.org/ontology/OMIM/MTHU022578

http://purl.bioontology.org/ontology/OMIM/MTHU037120

http://purl.bioontology.org/ontology/OMIM/MTHU022577

http://purl.bioontology.org/ontology/OMIM/MTHU002398

http://purl.bioontology.org/ontology/OMIM/MTHU022584

http://purl.bioontology.org/ontology/OMIM/MTHU009307

http://purl.bioontology.org/ontology/OMIM/MTHU022575

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

312800

notation

600145

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SACRAL DEFECT WITH ANTERIOR MENINGOCELE

Scope Statement

Intrafamilial variability [MISCELLANEOUS]

Considered to be a manifestation of the caudal regression syndrome [MISCELLANEOUS]

Present at birth [MISCELLANEOUS]

Phenotypic overlap with Currarino syndrome (176450) [MISCELLANEOUS]

tui

T047

T019

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10054842 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10059387 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10072457 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C537221 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205425003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10054842 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10054842 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG133 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/205425003 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537221 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10059387 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8301004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X77rp RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-01564 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C537221 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/8301004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10059387 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10072464 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10049216 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D004480 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/723973002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10072464 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10049216 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10072457 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01561 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10072457 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/XE2R4 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-F1110 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10049216 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10072464 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D004480 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/723973002 SNOMEDCT CUI
http://identifiers.org/omim/600145 REXO LOOM
http://identifiers.org/omim/600145 GEXO LOOM
http://identifiers.org/omim/600145 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_600145 CCO LOOM