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Preferred Name

TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
Synonyms

THNS
ID

http://purl.bioontology.org/ontology/OMIM/618268
altLabel

THNS
cui

C4748898
Gene Locus

17q23.3
Gene Symbol

THNS

CCDC47
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU010336

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU037280

http://purl.bioontology.org/ontology/OMIM/MTHU027643

http://purl.bioontology.org/ontology/OMIM/MTHU063068

http://purl.bioontology.org/ontology/OMIM/MTHU063076

http://purl.bioontology.org/ontology/OMIM/MTHU009718

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036754

http://purl.bioontology.org/ontology/OMIM/MTHU063088

http://purl.bioontology.org/ontology/OMIM/MTHU063086

http://purl.bioontology.org/ontology/OMIM/MTHU063072

http://purl.bioontology.org/ontology/OMIM/MTHU037442

http://purl.bioontology.org/ontology/OMIM/MTHU063078

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU063080

http://purl.bioontology.org/ontology/OMIM/MTHU000259

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

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU042911

http://purl.bioontology.org/ontology/OMIM/MTHU063092

http://purl.bioontology.org/ontology/OMIM/MTHU063090

http://purl.bioontology.org/ontology/OMIM/MTHU063084

http://purl.bioontology.org/ontology/OMIM/MTHU063082

http://purl.bioontology.org/ontology/OMIM/MTHU015589

http://purl.bioontology.org/ontology/OMIM/MTHU004140

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

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU011667

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU003181

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

http://purl.bioontology.org/ontology/OMIM/MTHU017295

http://purl.bioontology.org/ontology/OMIM/MTHU036375

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU063069

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU057005

http://purl.bioontology.org/ontology/OMIM/MTHU063079

http://purl.bioontology.org/ontology/OMIM/MTHU063077

http://purl.bioontology.org/ontology/OMIM/MTHU070624

http://purl.bioontology.org/ontology/OMIM/MTHU002943

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU063073

http://purl.bioontology.org/ontology/OMIM/MTHU063071

http://purl.bioontology.org/ontology/OMIM/MTHU058057

http://purl.bioontology.org/ontology/OMIM/MTHU006083

http://purl.bioontology.org/ontology/OMIM/MTHU004403

http://purl.bioontology.org/ontology/OMIM/MTHU063083

http://purl.bioontology.org/ontology/OMIM/MTHU063089

http://purl.bioontology.org/ontology/OMIM/MTHU001788

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

http://purl.bioontology.org/ontology/OMIM/MTHU063081

http://purl.bioontology.org/ontology/OMIM/MTHU063087

http://purl.bioontology.org/ontology/OMIM/MTHU063085

http://purl.bioontology.org/ontology/OMIM/MTHU011174

http://purl.bioontology.org/ontology/OMIM/MTHU063075

http://purl.bioontology.org/ontology/OMIM/MTHU013529

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU001148

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

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU002505

http://purl.bioontology.org/ontology/OMIM/MTHU000268

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

http://purl.bioontology.org/ontology/OMIM/MTHU004153

http://purl.bioontology.org/ontology/OMIM/MTHU004663

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU024785

http://purl.bioontology.org/ontology/OMIM/MTHU007447
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

618268
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
Scope Statement

Caused by mutation in the coiled-coil domain containing-47 gene (CCDC47, 618260.0001) [MOLECULAR BASIS]

Multiple miscarriages in families of affected individuals [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0032645 Mondo Disease Ontology / Mondo疾病本体 LOOM