Fraser syndrome 1

Preferred Label : Fraser syndrome 1;

Symbol : FRASRS1;

CISMeF acronym : FRASRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cryptophthalmos-syndactyly syndrome; Cryptophthalmos with other malformations; Fraser syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FRAS1 gene (FRAS1, 607830.0001); Caused by mutation in the FRAS1-related extracellular matrix protein 2 gene (FREM2, 608945.0001);

Prefixed ID : #219000;

Details

Origin ID

219000;

UMLS CUI

C4551480;

Automatic exact mappings (from CISMeF team)
- Fraser extracellular matrix complex subunit 1 [ORDO Gene]
- Fraser syndrome [ICD-11 Subcategory]
- Fraser syndrome [MedDRA Preferred Term]
- Fraser syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Cryptophthalmos Syndrome [NCIt concept]
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser Syndrome [NCIt concept]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- Fraser syndrome [ORDO Disease]
- Fraser syndrome (disorder) [Inactive SNOMED CT concept]
- fraser syndrome [MeSH Descriptor]
- fraser syndrome [MeSH concept]
- fraser syndrome [SNOMED Notion]
DO Cross reference
- Fraser syndrome 1 [DO Concept]
Genes related to phenotype
- Fraser extracellular matrix complex subunit 1 [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormal umbilicus morphology [HPO term]
- Abnormality of the anus [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of the small intestine [HPO term]
- Abnormality of the thymus [HPO term]
- Absent eyebrow [HPO term]
- Absent eyebrows and eyelashes [HPO term]
- Absent eyelashes [HPO term]
- Anophthalmia [HPO term]
- Aplasia/Hypoplasia of the phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the sternum [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bilateral microphthalmos [HPO term]
- Blindness [HPO term]
- Broad and depressed nasal bridge [HPO term]
- Calvarial skull defect [HPO term]
- Choanal stenosis [HPO term]
- Cleft ala nasi [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clitoral hypertrophy [HPO term]
- Conductive hearing impairment [HPO term]
- Corneal opacity [HPO term]
- Cryptophthalmos [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Difficulty in tongue movements [HPO term]
- Encephalocele [HPO term]
- Extension of hair growth on temples to lateral eyebrow [HPO term]
- Facial cleft [HPO term]
- Flattened nasal bridge [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nostrils [HPO term]
- Hypoplastic superior helix [HPO term]
- Hypoplastic, notched nares [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Lacrimal duct aplasia [HPO term]
- Laryngeal atresia [HPO term]
- Laryngeal stenosis [HPO term]
- Laryngeal web [HPO term]
- Low-set ears [HPO term]
- Malformed lacrimal duct [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Midline nasal groove [HPO term]
- Morphological abnormality of the middle ear [HPO term]
- Myelomeningocele [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal hypoplasia/aplasia [HPO term]
- Severe T-cell immunodeficiency [HPO term]
- Stillbirth [HPO term]
- Subglottic stenosis [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upper eyelid coloboma [HPO term]
- Vaginal atresia [HPO term]
- White corneal opacification [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
- Wide pubic symphysis [HPO term]
ORDO concept(s)
- Fraser syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cryptophthalmos Syndrome [NCIt concept]
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser Syndrome [NCIt concept]
- Fraser syndrome [ORDO Disease]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- fraser syndrome [SNOMED Notion]
- fraser syndrome [MeSH Descriptor]
- fraser syndrome [MeSH concept]

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