Genopathy
Gene-Disorder Association · Article
Gene
FAM88C
Family With Sequence Similarity 88 Member C
Disorder
Multiple Pterygium Syndrome, Escobar Variant
First reported 1950
Supporting publications 1
Key publication · disorder The pterygium; brief review and evaluation of certain methods of treatment.A.M.A. archives of ophthalmology · 1950
Association Review

In brief

The association between FAM88C (Family With Sequence Similarity 88 Member C) and Multiple Pterygium Syndrome, Escobar Variant is reported, supported by a single source.

Sources 1
Clinical variants 0
Symptoms 84
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
Multiple Pterygium Syndrome, Escobar Variant

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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04
Phenotype

Clinical features

65 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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05
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

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