Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FOCAL DERMAL HYPOPLASIA
Synonyms

FDH
ID

http://purl.bioontology.org/ontology/OMIM/305600
altLabel

FDH

DHOF

FODH

GOLTZ SYNDROME

GOLTZ-GORLIN SYNDROME
cui

C0016395
Gene Locus

Xp11.23
Gene Symbol

FODH

PORC

PORCN

DHOF
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004398

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

http://purl.bioontology.org/ontology/OMIM/MTHU007671

http://purl.bioontology.org/ontology/OMIM/MTHU007682

http://purl.bioontology.org/ontology/OMIM/MTHU007677

http://purl.bioontology.org/ontology/OMIM/MTHU007643

http://purl.bioontology.org/ontology/OMIM/MTHU007657

http://purl.bioontology.org/ontology/OMIM/MTHU006857

http://purl.bioontology.org/ontology/OMIM/MTHU003459

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

http://purl.bioontology.org/ontology/OMIM/MTHU007683

http://purl.bioontology.org/ontology/OMIM/MTHU007666

http://purl.bioontology.org/ontology/OMIM/MTHU002046

http://purl.bioontology.org/ontology/OMIM/MTHU007665

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU007644

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU002045

http://purl.bioontology.org/ontology/OMIM/MTHU007664

http://purl.bioontology.org/ontology/OMIM/MTHU001761

http://purl.bioontology.org/ontology/OMIM/MTHU007390

http://purl.bioontology.org/ontology/OMIM/MTHU007651

http://purl.bioontology.org/ontology/OMIM/MTHU007680

http://purl.bioontology.org/ontology/OMIM/MTHU005345

http://purl.bioontology.org/ontology/OMIM/MTHU007660

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU007670

http://purl.bioontology.org/ontology/OMIM/MTHU036446

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

http://purl.bioontology.org/ontology/OMIM/MTHU037500

http://purl.bioontology.org/ontology/OMIM/MTHU007650

http://purl.bioontology.org/ontology/OMIM/MTHU007647

http://purl.bioontology.org/ontology/OMIM/MTHU007401

http://purl.bioontology.org/ontology/OMIM/MTHU007653

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU004560

http://purl.bioontology.org/ontology/OMIM/MTHU007675

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU000073

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

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU007642

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

http://purl.bioontology.org/ontology/OMIM/MTHU007672

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU007662

http://purl.bioontology.org/ontology/OMIM/MTHU007655

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

http://purl.bioontology.org/ontology/OMIM/MTHU007673

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU004842

http://purl.bioontology.org/ontology/OMIM/MTHU001429

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU002674

http://purl.bioontology.org/ontology/OMIM/MTHU003001

http://purl.bioontology.org/ontology/OMIM/MTHU007646

http://purl.bioontology.org/ontology/OMIM/MTHU004673

http://purl.bioontology.org/ontology/OMIM/MTHU007681

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

http://purl.bioontology.org/ontology/OMIM/MTHU007663

http://purl.bioontology.org/ontology/OMIM/MTHU001845

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

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU007661

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU002992

http://purl.bioontology.org/ontology/OMIM/MTHU005671

http://purl.bioontology.org/ontology/OMIM/MTHU038286

http://purl.bioontology.org/ontology/OMIM/MTHU006675

http://purl.bioontology.org/ontology/OMIM/MTHU001312

http://purl.bioontology.org/ontology/OMIM/MTHU007678

http://purl.bioontology.org/ontology/OMIM/MTHU005516

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

http://purl.bioontology.org/ontology/OMIM/MTHU007676

http://purl.bioontology.org/ontology/OMIM/MTHU007679

http://purl.bioontology.org/ontology/OMIM/MTHU002571

http://purl.bioontology.org/ontology/OMIM/MTHU005778

http://purl.bioontology.org/ontology/OMIM/MTHU007648

http://purl.bioontology.org/ontology/OMIM/MTHU007652

http://purl.bioontology.org/ontology/OMIM/MTHU007674

http://purl.bioontology.org/ontology/OMIM/MTHU001976

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

http://purl.bioontology.org/ontology/OMIM/MTHU007649

http://purl.bioontology.org/ontology/OMIM/MTHU001436

http://purl.bioontology.org/ontology/OMIM/MTHU006863

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU007654
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

305600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FOCAL DERMAL HYPOPLASIA
Scope Statement

Affected males are all result of new mutation [MISCELLANEOUS]

Ninety percent of cases are female [MISCELLANEOUS]

Majority of cases (95%) are sporadic [MISCELLANEOUS]

Caused by mutation in the porcupine O-acyltransferase gene (PORCN, 300651.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D005489 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205573006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/0726-8244 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001264 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X50Kk RCD CUI
http://purl.bioontology.org/ontology/MESH/D005489 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/205573006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-01054 SNMI CUI
http://purl.obolibrary.org/obo/MONDO_0010592 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205573006 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_2092 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Focal_Dermal_Hypoplasia CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33400 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D005489 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.380 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039334 PMAPP-PMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14668 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84715 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.350.424 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84715 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.424 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.186 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005489 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.424 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000363 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.424 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2004 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D005489 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2120 NATPRO LOOM
http://purl.jp/bio/4/id/200906064292554740 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0006696 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_305600 CCO LOOM
http://identifiers.org/omim/305600 REXO LOOM
http://identifiers.org/omim/305600 GEXO LOOM
http://identifiers.org/omim/305600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5143 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2120 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2120 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2120 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2120 FNS-H LOOM