bad parentage for terms in October release

[tutajm]

Below are the remaining terms from original October release we think the parentage is wrong and it should be revised.

Thank you, mtutaj

id: DOID:0110769 name: hereditary spastic paraplegia 16 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060814 name: Wilson-Turner syndrome def: "A syndromic X-linked .... mutation in the LAS1L gene on chromosome Xq12." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060693 name: Brunner Syndrome def: "An amino acid metabolic disorder characterized by recessive X-linked inhetiance... mutation in the MAOA gene on chromosome Xp11." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060246 name: MASA syndrome synonym: "X-linked spastic paraplegia 1" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060161 name: Kennedy's disease synonym: "X-linked Spinal and Bulbar Muscular Atrophy" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:1919 name: Lesch-Nyhan syndrome synonym: "X-linked hyperuricemia" EXACT [SNOMEDCT_2005_07_31:68655008] is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0110981 name: Joubert syndrome 10 def: "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0110871 name: congenital stationary night blindness 2A def: "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:14179 name: Bruton-type agammaglobulinemia def: "A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1...." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0110773 name: hereditary spastic paraplegia 2 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060875 name: isolated growth hormone deficiency type III def: "... mutation in the BTK gene on chromosome Xq22.1." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:11723 name: Duchenne muscular dystrophy def: "A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. ..." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0111040 name: glycogen storage disease IXd def: "A glycogen storage disease IX characterized by X-linked inheritance ... mutation in the PHKA1 gene on chromosome Xq13." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:12259 name: hemophilia B def: "... The disease is inherited as an X-linked recessive trait." is_a: DOID:0050737 ! autosomal recessive disease

id: DOID:0060179 name: Renpenning syndrome def: "... which follows X-linked inheritance and presents most often in males." is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060309 ! syndromic X-linked intellectual disability

id: DOID:0060829 name: Brooks-Wisniewski-Brown syndrome synonym: "X-linked intellectual disability, Brooks type" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060309 ! syndromic X-linked intellectual disability

id: DOID:0060805 name: Prieto syndrome synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060309 ! syndromic X-linked intellectual disability

id: DOID:5409 name: lung small cell carcinoma is_a: DOID:0050736 ! autosomal dominant disease * REALLY???? **

this is peculiar -- look at the definition: X-linked mutation on chr 14q12 ???? id: DOID:0070026 name: Revesz syndrome def: "A dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12." synonym: "Dyskeratosis Congenita, Autosomal Dominant 5" EXACT [] is_a: DOID:0080012 ! X-linked recessive disease

[lschriml]

Each term has been reviewed and updated.

Cheers, Lynn

[tutajm]

Thanks a lot!

Any hope for a release this week, or soon? Our QC works best for frequent releases. And any bugs could be caught early, so they could be promptly fixed. :-)

[lschriml]

Hello, I am planning a build for next Wed. I am at ASHG, flying home tomorrow.

Cheers, Lynn

On Thu, Oct 18, 2018 at 11:18 AM Marek Tutaj notifications@github.com wrote:

Thanks a lot!

Any hope for a release this week, or soon? Our QC works best for frequent releases. And any bugs could be caught early, so they could be promptly fixed. :-)

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