SCHIMKE IMMUNOOSSEOUS DYSPLASIA

SIOD

http://purl.bioontology.org/ontology/OMIM/242900

SIOD

IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

C0877024

2q34-q36

SMARCAL1

HARP

SIOD

http://purl.bioontology.org/ontology/OMIM/MTHU012120

http://purl.bioontology.org/ontology/OMIM/MTHU037610

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU006844

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU012108

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU012106

http://purl.bioontology.org/ontology/OMIM/MTHU036695

http://purl.bioontology.org/ontology/OMIM/MTHU012104

http://purl.bioontology.org/ontology/OMIM/MTHU036764

http://purl.bioontology.org/ontology/OMIM/MTHU037126

http://purl.bioontology.org/ontology/OMIM/MTHU012118

http://purl.bioontology.org/ontology/OMIM/MTHU012113

http://purl.bioontology.org/ontology/OMIM/MTHU007699

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU012101

http://purl.bioontology.org/ontology/OMIM/MTHU012116

http://purl.bioontology.org/ontology/OMIM/MTHU011134

http://purl.bioontology.org/ontology/OMIM/MTHU002634

http://purl.bioontology.org/ontology/OMIM/MTHU011290

http://purl.bioontology.org/ontology/OMIM/MTHU012123

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU008084

http://purl.bioontology.org/ontology/OMIM/MTHU001959

http://purl.bioontology.org/ontology/OMIM/MTHU006837

http://purl.bioontology.org/ontology/OMIM/MTHU000290

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU012107

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU012105

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU012119

http://purl.bioontology.org/ontology/OMIM/MTHU012117

http://purl.bioontology.org/ontology/OMIM/MTHU037611

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU012115

http://purl.bioontology.org/ontology/OMIM/MTHU012100

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU004146

http://purl.bioontology.org/ontology/OMIM/MTHU000606

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU012122

http://purl.bioontology.org/ontology/OMIM/MTHU012112

http://purl.bioontology.org/ontology/OMIM/MTHU012110

http://purl.bioontology.org/ontology/OMIM/MTHU004435

http://purl.bioontology.org/ontology/OMIM/MTHU012114

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU006263

Phenotype description, molecular basis known.

242900

3

pound

SCHIMKE IMMUNOOSSEOUS DYSPLASIA

Marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) [MISCELLANEOUS]

Caused by mutations in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like gene (SMARCAL1, 606622.0001) [MOLECULAR BASIS]

Waddling gait [MISCELLANEOUS]

T019