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monarch-initiative / monarch-disease-ontology-RETIRED

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Acrofrontofacionasal Dysostosis #394

Closed cmungall closed 6 years ago

cmungall commented 6 years ago

OMIM has

(no PS)

In Orphanet the two diseases have no connection:

[Term]
id: Orphanet:1784
name: Acrofrontofacionasal dysostosis
def: "Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." []
synonym: "Richieri-Costa-Colletto syndrome" EXACT []
xref: ICD10:Q75.1
xref: OMIM:201180
xref: UMLS:C1860118
is_a: Orphanet:377789  ! malformation syndrome
relationship: has_AgeOfOnset Orphanet:409944 ! Neonatal
relationship: has_inheritance Orphanet:409930 ! autosomal recessive
relationship: has_point_prevalence_range Orphanet:409979 ! <1 / 1 000 000
relationship: part_of Orphanet:364574 ! Acrofacial dysostosis
relationship: present_in Orphanet:409991 ! Worldwide
property_value: definition:citation "orphanet" xsd:string

[Term]
id: Orphanet:2211
name: Hypertelorism-hypospadias-polysyndactyly syndrome
def: "Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." []
synonym: "Acrofrontofacionasal dysostosis type 2" EXACT []
synonym: "Acrofrontofacionasal syndrome type 2" EXACT []
synonym: "Naguib-Richieri-Costa syndrome" EXACT []
xref: ICD10:Q87.8
xref: OMIM:239710
xref: UMLS:C1855904
is_a: Orphanet:377789  ! malformation syndrome
relationship: has_AgeOfOnset Orphanet:409944 ! Neonatal
relationship: has_inheritance Orphanet:409930 ! autosomal recessive
relationship: has_point_prevalence_range Orphanet:409979 ! <1 / 1 000 000
relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation
relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: present_in Orphanet:409991 ! Worldwide
property_value: definition:citation "orphanet" xsd:string

It doesn't seem to acknowledge a type 1/2 distinction between a generic form of the disease

nicolevasilevsky commented 6 years ago

I think this has been fixed, closing