Inheritance type inconsistencies

[cmungall]

This ticket is for collecting examples of inconsistencies that arise if we encode AD / AR / X-linked etc as disjoint classes.

[cmungall]

id: Orphanet:477
name: KID syndrome
def: "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." []
synonym: "KID/HID syndrome" EXACT []
synonym: "Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT []
synonym: "Senter syndrome" EXACT []
xref: ICD10:Q80.8
xref: MedDRA:10048786
xref: OMIM:148210 ! ! Keratitis-Ichthyosis-Deafness Syndrome, ***Autosomal Dominant***
xref: OMIM:242150
xref: OMIM:602540
xref: UMLS:C0265336
xref: UMLS:C3665333
is_a: Orphanet:377788  ! disease
relationship: has_AgeOfOnset Orphanet:409944 ! Neonatal
***relationship: has_inheritance Orphanet:409929 ! autosomal dominant
***relationship: has_inheritance Orphanet:409941 ! not inherited
relationship: has_point_prevalence_range Orphanet:409979 ! <1 / 1 000 000
relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs
***relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome
relationship: part_of Orphanet:90642 ! Syndromic genetic deafness
***relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features
relationship: present_in Orphanet:409991 ! Worldwide
property_value: definition:citation "orphanet" xsd:string

[cmungall]

Different example from DO

  is_a DOID:630 ! genetic disease
   is_a DOID:0050177 ! monogenic disease
    is_a DOID:0050739 ! autosomal genetic disease
     is_a DOID:0050736 ! autosomal dominant disease
      is_a DOID:14693 ! Clouston syndrome *** 
       is_a DOID:14793 ! hypohidrotic ectodermal dysplasia

but it seems Hypohidrotic HED is a mix:

id: Orphanet:238468
name: Hypohidrotic ectodermal dysplasia
def: "Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." []
synonym: "Anhidrotic ectodermal dysplasia" EXACT []
synonym: "HED" EXACT []
xref: ICD10:Q82.4
xref: OMIM:129490
xref: OMIM:224900
xref: OMIM:300291
xref: OMIM:305100
xref: OMIM:612132
xref: OMIM:614940
xref: OMIM:614941
xref: UMLS:C0162359
xref: UMLS:C0406702
xref: UMLS:C1706004
is_a: Orphanet:377788  ! disease
relationship: has_AgeOfOnset Orphanet:409944 ! Neonatal
relationship: has_AgeOfOnset Orphanet:409945 ! Infancy
relationship: has_inheritance Orphanet:409929 ! autosomal dominant
relationship: has_inheritance Orphanet:409930 ! autosomal recessive
relationship: has_inheritance Orphanet:409932 ! x-linked recessive
relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome
relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation
relationship: part_of Orphanet:98604 ! Congenital alacrima
property_value: definition:citation "orphanet" xsd:string

[nicolevasilevsky]

closing, looks like this was fixed