Closed cmungall closed 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
I think this has been fixed, closing
OMIM has
(no PS)
In Orphanet the two diseases have no connection:
It doesn't seem to acknowledge a type 1/2 distinction between a generic form of the disease