Focal dermal hypoplasia

Preferred Label : Focal dermal hypoplasia;

Symbol : FDH;

CISMeF acronym : DHOF; FDH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fodh; Goltz syndrome; Goltz-gorlin syndrome; DHOF;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the porcupine O-acyltransferase gene (PORCN, 300651.0001);

Prefixed ID : #305600;

Details

Origin ID

305600;

UMLS CUI

C0016395;

Automatic exact mappings (from CISMeF team)
- Familial dysalbuminemic hyperthyroxinemia [ORDO Disease]
- Focal dermal hypoplasia [PASCAL descriptor]
- Focal dermal hypoplasia [ICD-11 More detail]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- PORCN wt Allele [NCIt concept]
- aldehyde dehydrogenase 1 family member L1 [HGNC gene]
- basal cell nevus syndrome [MeSH Descriptor]
- basal cell nevus syndrome [MeSH concept]
- focal dermal hypoplasia [DO Concept]
- symbol withdrawn FDH [HGNC gene]
Currated CISMeF NLP mapping
- Focal Dermal Hypoplasia [NCIt concept]
- Focal dermal hypoplasia [ORDO Disease]
- Focal dermal hypoplasia (disorder) [SNOMED CT concept]
- Goltz syndrome (disorder) [SNOMED CT concept]
- focal dermal hypoplasia [MeSH Descriptor]
- focal dermal hypoplasia [MeSH concept]
- focal dermal hypoplasia disorder [Disease (Nov.)]
- goltz syndrome [SNOMED Notion]
DO Cross reference
- focal dermal hypoplasia [DO Concept]
Genes related to phenotype
- Porcupine o-acyltransferase [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Abnormality of the larynx [HPO term]
- Abnormality of the pinna [HPO term]
- Absent fingernail [HPO term]
- Absent toenail [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aniridia [HPO term]
- Anophthalmia [HPO term]
- Anteriorly placed anus [HPO term]
- Bifid ureter [HPO term]
- Brachydactyly [HPO term]
- Brittle hair [HPO term]
- Broad nasal tip [HPO term]
- Chiari malformation [HPO term]
- Chorioretinal coloboma [HPO term]
- Cleft ala nasi [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clitoral hypoplasia [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Dermal atrophy [HPO term]
- Diastasis recti [HPO term]
- Ectopia lentis [HPO term]
- Enamel hypoplasia [HPO term]
- Facial asymmetry [HPO term]
- Foot oligodactyly [HPO term]
- Foot polydactyly [HPO term]
- Hand oligodactyly [HPO term]
- Hiatus hernia [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypodontia [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic ribs [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Iris coloboma [HPO term]
- Joint laxity [HPO term]
- Labial hypoplasia [HPO term]
- Linear hyperpigmentation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Midclavicular aplasia [HPO term]
- Midclavicular hypoplasia [HPO term]
- Mixed hearing impairment [HPO term]
- Myelomeningocele [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Narrow nasal bridge [HPO term]
- Nystagmus [HPO term]
- Oligodontia [HPO term]
- Omphalocele [HPO term]
- Optic atrophy [HPO term]
- Osteopathia striata [HPO term]
- Patchy alopecia [HPO term]
- Pointed chin [HPO term]
- Poorly formed pinnae [HPO term]
- Postaxial hand polydactyly [HPO term]
- Reduced visual acuity [HPO term]
- Reticular hyperpigmentation [HPO term]
- Scoliosis [HPO term]
- Short finger [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Spina bifida occulta [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Telangiectasia [HPO term]
- Toe syndactyly [HPO term]
- Umbilical hernia [HPO term]
- Ureteral duplication [HPO term]
- Visual impairment [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Focal dermal hypoplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal Dermal Hypoplasia [NCIt concept]
- Focal dermal hypoplasia [ORDO Disease]
- Focal dermal hypoplasia (disorder) [SNOMED CT concept]
- Goltz syndrome (disorder) [SNOMED CT concept]
- focal dermal hypoplasia [MeSH Descriptor]
- focal dermal hypoplasia [MeSH concept]
- focal dermal hypoplasia [DO Concept]
- focal dermal hypoplasia disorder [Disease (Nov.)]
- goltz syndrome [SNOMED Notion]

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