early March DO release

src/ontology/HumanDO.obo

@@ -1,6 +1,6 @@
 format-version: 1.2
-data-version: doid/releases/2022-02-28/doid-non-classified.obo
-date: 28:02:2022 17:43
+data-version: doid/releases/2022-03-02/doid-non-classified.obo
+date: 02:03:2022 12:06
 saved-by: lschriml
 subsetdef: DO_AGR_slim "DO_AGR_slim"
 subsetdef: DO_cancer_slim "DO_cancer_slim"
@@ -7352,7 +7352,6 @@ creation_date: 2013-01-16T01:07:02Z
 [Term]
 id: DOID:0050756
 name: obsolete CLN3 disease
-subset: DO_FlyBase_slim
 is_obsolete: true
 creation_date: 2013-01-16T01:15:03Z
 
@@ -11474,7 +11473,6 @@ creation_date: 2011-10-28T02:57:50Z
 [Term]
 id: DOID:0060171
 name: obsolete Dravet syndrome
-subset: DO_FlyBase_slim
 is_obsolete: true
 created_by: lschriml
 creation_date: 2011-10-28T03:14:46Z
@@ -58699,6 +58697,177 @@ synonym: "SPGF57" EXACT []
 xref: OMIM:619528
 is_a: DOID:0111910 ! spermatogenic failure
 
+[Term]
+id: DOID:0112339
+name: Tatton-Brown-Rahman syndrome
+def: "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in DNMT3A on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/24614070/, url:https\://pubmed.ncbi.nlm.nih.gov/34315901/]
+synonym: "DNMT3A overgrowth syndrome" EXACT []
+synonym: "DOS" EXACT []
+synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT []
+synonym: "TBRS" EXACT []
+xref: OMIM:615879
+xref: ORDO:404443
+is_a: DOID:0050888 ! syndromic intellectual disability
+
+[Term]
+id: DOID:0112340
+name: craniotubular dysplasia Ikegawa type
+def: "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in TMEM53 on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33824347/]
+synonym: "CTDI" EXACT []
+xref: OMIM:619727
+is_a: DOID:0080032 ! craniodiaphyseal dysplasia
+
+[Term]
+id: DOID:0112341
+name: hereditary spastic paraplegia 80
+def: "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in UBAP1 on chromosome 9p13.3." [url:https\://pubmed.ncbi.nlm.nih.gov/30929741/]
+synonym: "spastic paraplegia 80 autosomal dominant" EXACT []
+synonym: "SPG80" EXACT []
+xref: OMIM:618418
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112342
+name: hereditary spastic paraplegia 86
+def: "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in ABHD16A on chromosome 6p21.33." [url:https\://pubmed.ncbi.nlm.nih.gov/34489854/, url:https\://pubmed.ncbi.nlm.nih.gov/34866177/]
+synonym: "spastic paraplegia 86 autosomal recessive" EXACT []
+synonym: "SPG86" EXACT []
+xref: OMIM:619735
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112343
+name: hereditary spastic paraplegia 82
+def: "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in PCYT2 on chromosome 17q25.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31637422/]
+synonym: "spastic paraplegia 82 autosomal recessive" EXACT []
+synonym: "SPG82" EXACT []
+xref: OMIM:618770
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112344
+name: hereditary spastic paraplegia 79
+def: "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in UCHL1 on chromosome 4p13." [url:https\://pubmed.ncbi.nlm.nih.gov/28007905/]
+synonym: "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" EXACT []
+synonym: "spastic paraplegia 79 autosomal recessive" EXACT []
+synonym: "SPG79" EXACT []
+xref: OMIM:615491
+xref: ORDO:352654
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112345
+name: hereditary spastic paraplegia 85
+def: "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in RNF170 on chromosome 8p11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/31636353/]
+synonym: "spastic paraplegia 85 autosomal recessive" EXACT []
+synonym: "SPG85" EXACT []
+xref: OMIM:619686
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112346
+name: hereditary spastic paraplegia 83
+def: "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in HPDL on chromosome 1p34.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32707086/]
+synonym: "spastic paraplegia 83 autosomal recessive" EXACT []
+synonym: "SPG83" EXACT []
+xref: OMIM:619027
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112347
+name: hereditary spastic paraplegia 84
+def: "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in PI4KA on chromosome 22q11.21." [url:https\://pubmed.ncbi.nlm.nih.gov/34415322/]
+synonym: "spastic paraplegia 84 autosomal recessive" EXACT []
+synonym: "SPG84" EXACT []
+xref: OMIM:619621
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112348
+name: hereditary spastic paraplegia 78
+def: "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in ATP13A2 on chromosome 1p36.13." [url:https\://pubmed.ncbi.nlm.nih.gov/28137957/]
+synonym: "spastic paraplegia 78 autosomal recessive" EXACT []
+synonym: "SPG78" EXACT []
+xref: OMIM:617225
+xref: ORDO:513436
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112349
+name: hereditary spastic paraplegia 81
+def: "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in SELENOI on chromosome 2p23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/28052917/, url:https\://pubmed.ncbi.nlm.nih.gov/29500230/]
+synonym: "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" EXACT []
+synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT []
+synonym: "spastic paraplegia 81 autosomal recessive" EXACT []
+synonym: "SPG81" EXACT []
+xref: OMIM:618768
+xref: ORDO:506353
+is_a: DOID:2476 ! hereditary spastic paraplegia
+
+[Term]
+id: DOID:0112350
+name: spermatogenic failure 61
+def: "An azoospermia characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in STAG3 on chromosome 7q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/31125047/, url:https\://pubmed.ncbi.nlm.nih.gov/31682730/]
+synonym: "SPGF61" EXACT []
+xref: OMIM:619672
+is_a: DOID:14227 ! azoospermia
+
+[Term]
+id: DOID:0112351
+name: spermatogenic failure 62
+def: "An azoospermia characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in RNF212 on chromosome 4p16.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31125047/]
+synonym: "SPGF62" EXACT []
+xref: OMIM:619673
+is_a: DOID:14227 ! azoospermia
+
+[Term]
+id: DOID:0112352
+name: spermatogenic failure 58
+def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in IFT74 on chromosome 9p21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/33689014/]
+synonym: "SPGF58" EXACT []
+xref: OMIM:619585
+is_a: DOID:0111910 ! spermatogenic failure
+
+[Term]
+id: DOID:0112353
+name: spermatogenic failure 64
+def: "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in FBXO43 on chromosome 8q22.2." [url:https\://pubmed.ncbi.nlm.nih.gov/30878252/, url:https\://pubmed.ncbi.nlm.nih.gov/34595750/]
+synonym: "SPGF64" EXACT []
+xref: OMIM:619696
+is_a: DOID:0111910 ! spermatogenic failure
+
+[Term]
+id: DOID:0112354
+name: spermatogenic failure 65
+def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in DHND1 on chromosome 11p15.4." [url:https\://pubmed.ncbi.nlm.nih.gov/34932939/]
+synonym: "SPGF65" EXACT []
+xref: OMIM:619712
+is_a: DOID:0111910 ! spermatogenic failure
+
+[Term]
+id: DOID:0112355
+name: spermatogenic failure 60
+def: "An azoospermia characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TERB1 on chromosome 16q22.1." [url:https\://pubmed.ncbi.nlm.nih.gov/32741963/]
+synonym: "SPGF 60" EXACT []
+xref: OMIM:619646
+is_a: DOID:14227 ! azoospermia
+
+[Term]
+id: DOID:0112356
+name: spermatogenic failure 63
+def: "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in RPL10L on chromosome 14q21.2." [url:https\://pubmed.ncbi.nlm.nih.gov/32111475/]
+synonym: "SPGF63" EXACT []
+xref: OMIM:619689
+is_a: DOID:0111910 ! spermatogenic failure
+
+[Term]
+id: DOID:0112357
+name: spermatogenic failure 59
+def: "An azoospermia characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TERB2 on chromosome 15q21.1." [url:https\://pubmed.ncbi.nlm.nih.gov/33211200/]
+synonym: "SPGF59" EXACT []
+xref: OMIM:619645
+is_a: DOID:14227 ! azoospermia
+
 [Term]
 id: DOID:070355
 name: multisystem proteinopathy
@@ -92065,7 +92234,6 @@ is_a: DOID:2226 ! myeloproliferative neoplasm
 id: DOID:2225
 name: obsolete megakaryocytic tumor
 comment: A legacy term, obsoleted.
-subset: NCIthesaurus
 xref: NCI:C7066
 xref: UMLS_CUI:C1334687
 is_obsolete: true
@@ -95473,7 +95641,6 @@ is_obsolete: true
 id: DOID:2678
 name: obsolete adult mesoblastic nephroma
 def: "A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9669345]
-subset: NCIthesaurus
 is_obsolete: true
 
 [Term]
@@ -96400,7 +96567,6 @@ is_a: DOID:0060095 ! uterine benign neoplasm
 [Term]
 id: DOID:2770
 name: obsolete diaper rash
-subset: NCIthesaurus
 synonym: "Diaper or napkin erythema" EXACT []
 synonym: "Diaper or napkin rash" EXACT []
 synonym: "Diaper rash (disorder)" EXACT []
@@ -99709,7 +99875,6 @@ is_a: DOID:0060121 ! integumentary system benign neoplasm
 id: DOID:3166
 name: obsolete leukemoid reaction
 comment: This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated.
-subset: NCIthesaurus
 synonym: "transient myeloproliferative disorder" RELATED []
 xref: ICD10CM:D72.823
 xref: ICD9CM:288.62
@@ -101709,7 +101874,6 @@ is_a: DOID:3347 ! osteosarcoma
 id: DOID:338
 name: obsolete cranial nerve neoplasm
 def: "A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells." [url:https\://en.wikipedia.org/wiki/Schwannoma, url:https\://link.springer.com/chapter/10.1007/978-3-642-02874-8_15]
-subset: NCIthesaurus
 synonym: "neoplasm of cranial nerve" EXACT []
 is_obsolete: true
 
@@ -106044,7 +106208,6 @@ is_a: DOID:682 ! compartment syndrome
 id: DOID:3939
 name: obsolete lipomatous cancer
 comment: NCI retired concept, merged with liposarcoma[LS]
-subset: NCIthesaurus
 synonym: "malignant lipomatous tumor" EXACT []
 synonym: "malignant tumor of Adipose tissue" EXACT []
 xref: NCI:C4501
@@ -122148,7 +122311,6 @@ is_obsolete: true
 [Term]
 id: DOID:6021
 name: obsolete malignant testicular Leydig cell tumor
-subset: NCIthesaurus
 is_obsolete: true
 
 [Term]
@@ -127939,7 +128101,6 @@ is_a: DOID:707 ! B-cell lymphoma
 id: DOID:7061
 name: obsolete precursor B lymphoblastic lymphoma/leukemia
 def: "A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow." [url:https\://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia]
-subset: NCIthesaurus
 is_obsolete: true
 
 [Term]
@@ -129826,7 +129987,6 @@ is_a: DOID:620 ! blood protein disease
 [Term]
 id: DOID:7444
 name: obsolete diffuse intraductal papillomatosis
-subset: NCIthesaurus
 synonym: "Diffuse intraductal papillomatosis" EXACT []
 xref: NCI:C7364
 xref: UMLS_CUI:C1377912