Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SECKEL SYNDROME 1
Synonyms

SECKEL-TYPE DWARFISM
ID

http://purl.bioontology.org/ontology/OMIM/210600
altLabel

SECKEL-TYPE DWARFISM

NANOCEPHALIC DWARFISM

MICROCEPHALIC PRIMORDIAL DWARFISM I

BIRD-HEADED DWARFISM

SCKL

SCKL1
cui

C0265202
Gene Locus

3q22-q24
Gene Symbol

FRP1

ATR

SCKL1

FCTCS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011732

http://purl.bioontology.org/ontology/OMIM/MTHU014177

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU000504

http://purl.bioontology.org/ontology/OMIM/MTHU014187

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU014185

http://purl.bioontology.org/ontology/OMIM/MTHU014179

http://purl.bioontology.org/ontology/OMIM/MTHU045320

http://purl.bioontology.org/ontology/OMIM/MTHU014181

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU014193

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

http://purl.bioontology.org/ontology/OMIM/MTHU014191

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU010516

http://purl.bioontology.org/ontology/OMIM/MTHU014183

http://purl.bioontology.org/ontology/OMIM/MTHU014189

http://purl.bioontology.org/ontology/OMIM/MTHU000581

http://purl.bioontology.org/ontology/OMIM/MTHU007225

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU027721

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU004600

http://purl.bioontology.org/ontology/OMIM/MTHU014164

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU005299

http://purl.bioontology.org/ontology/OMIM/MTHU002075

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU036361

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU014178

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU036336

http://purl.bioontology.org/ontology/OMIM/MTHU014194

http://purl.bioontology.org/ontology/OMIM/MTHU014184

http://purl.bioontology.org/ontology/OMIM/MTHU014182

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

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000580

http://purl.bioontology.org/ontology/OMIM/MTHU014188

http://purl.bioontology.org/ontology/OMIM/MTHU000574

http://purl.bioontology.org/ontology/OMIM/MTHU014180

http://purl.bioontology.org/ontology/OMIM/MTHU014186

http://purl.bioontology.org/ontology/OMIM/MTHU001437

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU020345

http://purl.bioontology.org/ontology/OMIM/MTHU014190

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU007037

http://purl.bioontology.org/ontology/OMIM/MTHU010339
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

608664
notation

210600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SECKEL SYNDROME 1
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0070007 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C537533 Medical Subject Headings LOOM