v2020-12-02

New Classes

• MONDO:0020836 autism, susceptiblity to
• MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects
• MONDO:0026777 VEXAS syndrome
• MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
• MONDO:0033614 spastic paraplegia 83, autosomal recessive
• MONDO:0033615 coenzyme q10 deficiency, primary, 9
• MONDO:0033618 Vissers-Bodmer syndrome
• MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy
• MONDO:0033620 myofibrillar myopathy 10
• MONDO:0033621 spinal muscular atrophy, infantile, James type
• MONDO:0033622 spermatogenic failure 44
• MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies
• MONDO:0033631 combined oxidative phosphorylation deficiency 51
• MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3
• MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4
• MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7
• MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8
• MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10
• MONDO:0033640 vitamin D-dependent rickets, type 3
• MONDO:0033641 cleft palate, proliferative retinopathy, and developmental delay
• MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities
• MONDO:0033643 inflammatory bowel disease 30
• MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
• MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11
• MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12
• MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14
• MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15
• MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16
• MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17
• MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18
• MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19
• MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20
• MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21
• MONDO:0033657 leukodystrophy, hypomyelinating, 20
• MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy
• MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
• MONDO:0033664 Kilquist syndrome
• MONDO:0033665 deafness, autosomal dominant 78
• MONDO:0033667 Delpire-McNeill syndrome
• MONDO:0033668 deafness, autosomal dominant 79
• MONDO:0033669 Noonan syndrome 13
• MONDO:0033670 deafness, autosomal recessive 116
• MONDO:0033671 spermatogenic failure 45
• MONDO:0033673 spermatogenic failure 46
• MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type
• MONDO:0034846 primary desmosis coli
• MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease
• MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas
• MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form
• MONDO:0035008 isolated splenic vein thrombosis
• MONDO:0035009 isolated mesenteric vein thrombosis
• MONDO:0100195 X-linked intellectual disability with hypopituitarism
• MONDO:0100222 A20 haploinsufficiency
• MONDO:0100223 mitochondrial complex I deficiency, nuclear type
• MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1
• MONDO:0100225 collagen 6-related myopathy
• MONDO:0100226 parasomnia, sleepwalking type

Obsoletions

• MONDO:0000049 invasive pneumococcal disease, recurrent isolated --> obsolete invasive pneumococcal disease, recurrent isolated
• MONDO:0000123 obsolete factor v and Factor VIII, combined deficiency of --> obsolete factor V and Factor VIII, combined deficiency of
• MONDO:0001807 familial combined hyperlipidemia --> obsolete familial combined hyperlipidemia
• MONDO:0001932 atrophic vulva --> obsolete atrophic vulva
• MONDO:0002264 atrophy of prostate --> obsolete atrophy of prostate
• MONDO:0006168 common hematopoietic neoplasm --> obsolete common hematopoietic neoplasm
• MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm --> obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
• MONDO:0007347 CXB3S --> obsolete Coxsackievirus B3 susceptibility
• MONDO:0007468 DNA, satellite, alpha type --> obsolete DNA, satellite, alpha type
• MONDO:0007506 echo virus 11 sensitivity --> obsoleted echo virus 11 sensitivity
• MONDO:0008657 vibratory angioedema --> obsolete vibratory angioedema
• MONDO:0008761 alpha-2-deficient collagen disease --> obsolete alpha-2-deficient collagen disease
• MONDO:0009304 Gorlin-Chaudhry-Moss syndrome --> obsolete Gorlin-Chaudhry-Moss syndrome
• MONDO:0009640 mitochondrial complex I deficiency, nuclear type --> obsolete mitochondrial complex I deficiency, nuclear type
• MONDO:0010071 spondyloenchondrodysplasia --> obsolete spondyloenchondrodysplasia
• MONDO:0010195 Weissenbacher-Zweymuller syndrome --> obsolete Weissenbacher-Zweymuller syndrome
• MONDO:0010272 syndromic X-linked intellectual disability type 10 --> obsolete syndromic X-linked intellectual disability type 10
• MONDO:0010357 MRX78 --> obsolete MRX78
• MONDO:0010376 Brooks-Wisniewski-brown syndrome --> obsolete Brooks-Wisniewski-brown syndrome
• MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 --> obsolete invasive pneumococcal disease, recurrent isolated, 2
• MONDO:0011324 hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss --> obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
• MONDO:0011859 distal myopathy with early respiratory muscle involvement --> obsolete distal myopathy with early respiratory muscle involvement
• MONDO:0012189 Amish infantile epilepsy syndrome --> obsolete Amish infantile epilepsy syndrome
• MONDO:0012560 invasive pneumococcal disease, recurrent isolated, 1 --> obsolete invasive pneumococcal disease, recurrent isolated, 1
• MONDO:0013494 PSMNSW --> obsolete PSMNSW
• MONDO:0013701 MRT32 --> obsolete MRT32
• MONDO:0015172 epithelio-exfoliative colitis-deafness syndrome --> obsolete epithelio-exfoliative colitis-deafness syndrome
• MONDO:0015173 autoimmune enteropathy type 2 --> obsolete autoimmune enteropathy type 2
• MONDO:0015297 microcephaly-digital anomalies-intellectual disability syndrome --> obsolete microcephaly-digital anomalies-intellectual disability syndrome
• MONDO:0015560 classic mast cell leukemia --> obsolete classic mast cell leukemia
• MONDO:0015602 developmental delay-deafness syndrome, Hildebrand type --> obsolete developmental delay-deafness syndrome, Hildebrand type
• MONDO:0015964 rare genetic palpebral, lacrimal system and conjunctival disease --> obsolete rare genetic palpebral, lacrimal system and conjunctival disease
• MONDO:0016082 tracheo-esophageal fistula-hypospadias syndrome --> obsolete tracheo-esophageal fistula-hypospadias syndrome
• MONDO:0016111 non-dystrophic myopathy with collagen 6 anomaly --> obsolete non-dystrophic myopathy with collagen 6 anomaly
• MONDO:0016124 drug and/or toxic myopathy --> obsolete drug and/or toxic myopathy
• MONDO:0016997 hereditary epidermolysis bullosa associated with ocular features --> obsolete hereditary epidermolysis bullosa associated with ocular features
• MONDO:0017378 polymicrogyria-turricephaly-hypogenitalism syndrome --> obsolete polymicrogyria-turricephaly-hypogenitalism syndrome
• MONDO:0017458 postaxial polydactyly of toes --> obsolete postaxial polydactyly of toes
• MONDO:0017459 central polydactyly of toes --> obsolete central polydactyly of toes
• MONDO:0017494 congenital absence of upper arm and forearm with hand present, unilateral --> obsolete congenital absence of upper arm and forearm with hand present, unilateral
• MONDO:0017495 congenital absence of upper arm and forearm with hand present, bilateral --> obsolete congenital absence of upper arm and forearm with hand present, bilateral
• MONDO:0017539 postaxial polydactyly of toes, unilateral --> obsolete postaxial polydactyly of toes, unilateral
• MONDO:0017540 postaxial polydactyly of toes, bilateral --> obsolete postaxial polydactyly of toes, bilateral
• MONDO:0017541 central polydactyly of toes, unilateral --> obsolete central polydactyly of toes, unilateral
• MONDO:0017542 central polydactyly of toes, bilateral --> obsolete central polydactyly of toes, bilateral
• MONDO:0017678 disease with punctate palmoplantar keratoderma as a major feature --> obsolete disease with punctate palmoplantar keratoderma as a major feature
• MONDO:0017679 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature --> obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
• MONDO:0017680 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature --> obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
• MONDO:0017820 disease with Cushing syndrome as a major feature --> obsolete disease with Cushing syndrome as a major feature
• MONDO:0017938 X-linked cleft palate and ankyloglossia --> obsolete X-linked cleft palate and ankyloglossia
• MONDO:0017996 blepharophimosis - intellectual disability syndrome due to UBE3B deficiency --> obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
• MONDO:0018275 salt and pepper syndrome --> obsolete salt and pepper syndrome
• MONDO:0018336 Silver-Russell syndrome due to a point mutation --> obsolete Silver-Russell syndrome due to a point mutation
• MONDO:0019348 Ehlers-Danlos syndrome with periventricular heterotopia --> obsolete Ehlers-Danlos syndrome with periventricular heterotopia
• MONDO:0019389 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome --> obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
• MONDO:0019410 nodulosis-arthropathy-osteolysis syndrome --> obsolete nodulosis-arthropathy-osteolysis syndrome
• MONDO:0019657 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes --> obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
• MONDO:0019658 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation --> obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
• MONDO:0019894 non-distal monosomy 7p --> obsolete non-distal monosomy 7p
• MONDO:0020150 rare palpebral, lacrimal system and conjunctival disease --> obsolete rare palpebral, lacrimal system and conjunctival disease
• MONDO:0020168 kinetic eyelid anomaly --> obsolete kinetic eyelid anomaly
• MONDO:0020170 congenital upper palpebral retraction --> obsolete congenital upper palpebral retraction
• MONDO:0020199 conjunctival vascular anomaly --> obsolete conjunctival vascular anomaly
• MONDO:0020200 conjunctival hemangioma or hemolymphangioma --> obsolete conjunctival hemangioma or hemolymphangioma
• MONDO:0020201 conjunctival telangiectasia (disease) --> obsolete conjunctival telangiectasia (disease)
• MONDO:0020202 conjunctival lymphangiectasia --> obsolete conjunctival lymphangiectasia
• MONDO:0020261 neurological disease with abnormal eye movements --> obsolete neurological disease with abnormal eye movements
• MONDO:0020719 susceptibility to Hirschsprung disease --> obsolete susceptibility to Hirschsprung disease
• MONDO:0024236 degenerative disorder --> obsolete degenerative disorder
• MONDO:0024624 atrophy of lacrimal gland --> obsolete atrophy of lacrimal gland
• MONDO:0033571 skeletal muscle glycogen content and metabolism quantitative trait locus --> obsolete skeletal muscle glycogen content and metabolism quantitative trait locus

Renaming

• MONDO:0000049 invasive pneumococcal disease, recurrent isolated --> obsolete invasive pneumococcal disease, recurrent isolated
• MONDO:0000123 obsolete factor v and Factor VIII, combined deficiency of --> obsolete factor V and Factor VIII, combined deficiency of
• MONDO:0001807 familial combined hyperlipidemia --> obsolete familial combined hyperlipidemia
• MONDO:0001932 atrophic vulva --> obsolete atrophic vulva
• MONDO:0002264 atrophy of prostate --> obsolete atrophy of prostate
• MONDO:0006168 common hematopoietic neoplasm --> obsolete common hematopoietic neoplasm
• MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm --> obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
• MONDO:0007347 CXB3S --> obsolete Coxsackievirus B3 susceptibility
• MONDO:0007468 DNA, satellite, alpha type --> obsolete DNA, satellite, alpha type
• MONDO:0007506 echo virus 11 sensitivity --> obsoleted echo virus 11 sensitivity
• MONDO:0008490 Stickler syndrome type 3 --> otospondylomegaepiphyseal dysplasia, autosomal dominant
• MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber --> telangiectasia, hereditary hemorrhagic, type 1
• MONDO:0008657 vibratory angioedema --> obsolete vibratory angioedema
• MONDO:0008659 transcobalamin i deficiency --> transcobalamin I deficiency
• MONDO:0008761 alpha-2-deficient collagen disease --> obsolete alpha-2-deficient collagen disease
• MONDO:0008885 Branchioskeletogenital syndrome --> Elsahy-Waters syndrome
• MONDO:0009304 Gorlin-Chaudhry-Moss syndrome --> obsolete Gorlin-Chaudhry-Moss syndrome
• MONDO:0009640 mitochondrial complex I deficiency, nuclear type --> obsolete mitochondrial complex I deficiency, nuclear type
• MONDO:0010071 spondyloenchondrodysplasia --> obsolete spondyloenchondrodysplasia
• MONDO:0010195 Weissenbacher-Zweymuller syndrome --> obsolete Weissenbacher-Zweymuller syndrome
• MONDO:0010272 syndromic X-linked intellectual disability type 10 --> obsolete syndromic X-linked intellectual disability type 10
• MONDO:0010327 HSD10 disease --> HSD10 mitochondrial disease
• MONDO:0010357 MRX78 --> obsolete MRX78
• MONDO:0010376 Brooks-Wisniewski-brown syndrome --> obsolete Brooks-Wisniewski-brown syndrome
• MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency --> immunodeficiency 33
• MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 --> obsolete invasive pneumococcal disease, recurrent isolated, 2
• MONDO:0010961 obesity due to prohormone convertase i deficiency --> obesity due to prohormone convertase I deficiency
• MONDO:0011324 hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss --> obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
• MONDO:0011859 distal myopathy with early respiratory muscle involvement --> obsolete distal myopathy with early respiratory muscle involvement
• MONDO:0012186 Fanconi anemia complementation group i --> Fanconi anemia complementation group I
• MONDO:0012189 Amish infantile epilepsy syndrome --> obsolete Amish infantile epilepsy syndrome
• MONDO:0012560 invasive pneumococcal disease, recurrent isolated, 1 --> obsolete invasive pneumococcal disease, recurrent isolated, 1
• MONDO:0013422 type i complement component 8 deficiency --> type I complement component 8 deficiency
• MONDO:0013494 PSMNSW --> obsolete PSMNSW
• MONDO:0013701 MRT32 --> obsolete MRT32
• MONDO:0014567 postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome --> glutamate pyruvate transaminase 2 deficiency
• MONDO:0014985 Fanconi anemia complementation group v --> Fanconi anemia complementation group V
• MONDO:0015172 epithelio-exfoliative colitis-deafness syndrome --> obsolete epithelio-exfoliative colitis-deafness syndrome
• MONDO:0015173 autoimmune enteropathy type 2 --> obsolete autoimmune enteropathy type 2
• MONDO:0015297 microcephaly-digital anomalies-intellectual disability syndrome --> obsolete microcephaly-digital anomalies-intellectual disability syndrome
• MONDO:0015560 classic mast cell leukemia --> obsolete classic mast cell leukemia
• MONDO:0015602 developmental delay-deafness syndrome, Hildebrand type --> obsolete developmental delay-deafness syndrome, Hildebrand type
• MONDO:0015964 rare genetic palpebral, lacrimal system and conjunctival disease --> obsolete rare genetic palpebral, lacrimal system and conjunctival disease
• MONDO:0016082 tracheo-esophageal fistula-hypospadias syndrome --> obsolete tracheo-esophageal fistula-hypospadias syndrome
• MONDO:0016111 non-dystrophic myopathy with collagen 6 anomaly --> obsolete non-dystrophic myopathy with collagen 6 anomaly
• MONDO:0016124 drug and/or toxic myopathy --> obsolete drug and/or toxic myopathy
• MONDO:0016997 hereditary epidermolysis bullosa associated with ocular features --> obsolete hereditary epidermolysis bullosa associated with ocular features
• MONDO:0017378 polymicrogyria-turricephaly-hypogenitalism syndrome --> obsolete polymicrogyria-turricephaly-hypogenitalism syndrome
• MONDO:0017458 postaxial polydactyly of toes --> obsolete postaxial polydactyly of toes
• MONDO:0017459 central polydactyly of toes --> obsolete central polydactyly of toes
• MONDO:0017494 congenital absence of upper arm and forearm with hand present, unilateral --> obsolete congenital absence of upper arm and forearm with hand present, unilateral
• MONDO:0017495 congenital absence of upper arm and forearm with hand present, bilateral --> obsolete congenital absence of upper arm and forearm with hand present, bilateral
• MONDO:0017539 postaxial polydactyly of toes, unilateral --> obsolete postaxial polydactyly of toes, unilateral
• MONDO:0017540 postaxial polydactyly of toes, bilateral --> obsolete postaxial polydactyly of toes, bilateral
• MONDO:0017541 central polydactyly of toes, unilateral --> obsolete central polydactyly of toes, unilateral
• MONDO:0017542 central polydactyly of toes, bilateral --> obsolete central polydactyly of toes, bilateral
• MONDO:0017678 disease with punctate palmoplantar keratoderma as a major feature --> obsolete disease with punctate palmoplantar keratoderma as a major feature
• MONDO:0017679 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature --> obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
• MONDO:0017680 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature --> obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
• MONDO:0017820 disease with Cushing syndrome as a major feature --> obsolete disease with Cushing syndrome as a major feature
• MONDO:0017938 X-linked cleft palate and ankyloglossia --> obsolete X-linked cleft palate and ankyloglossia
• MONDO:0017996 blepharophimosis - intellectual disability syndrome due to UBE3B deficiency --> obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
• MONDO:0018275 salt and pepper syndrome --> obsolete salt and pepper syndrome
• MONDO:0018336 Silver-Russell syndrome due to a point mutation --> obsolete Silver-Russell syndrome due to a point mutation
• MONDO:0019348 Ehlers-Danlos syndrome with periventricular heterotopia --> obsolete Ehlers-Danlos syndrome with periventricular heterotopia
• MONDO:0019389 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome --> obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
• MONDO:0019410 nodulosis-arthropathy-osteolysis syndrome --> obsolete nodulosis-arthropathy-osteolysis syndrome
• MONDO:0019657 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes --> obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
• MONDO:0019658 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation --> obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
• MONDO:0019894 non-distal monosomy 7p --> obsolete non-distal monosomy 7p
• MONDO:0020150 rare palpebral, lacrimal system and conjunctival disease --> obsolete rare palpebral, lacrimal system and conjunctival disease
• MONDO:0020168 kinetic eyelid anomaly --> obsolete kinetic eyelid anomaly
• MONDO:0020170 congenital upper palpebral retraction --> obsolete congenital upper palpebral retraction
• MONDO:0020199 conjunctival vascular anomaly --> obsolete conjunctival vascular anomaly
• MONDO:0020200 conjunctival hemangioma or hemolymphangioma --> obsolete conjunctival hemangioma or hemolymphangioma
• MONDO:0020201 conjunctival telangiectasia (disease) --> obsolete conjunctival telangiectasia (disease)
• MONDO:0020202 conjunctival lymphangiectasia --> obsolete conjunctival lymphangiectasia
• MONDO:0020261 neurological disease with abnormal eye movements --> obsolete neurological disease with abnormal eye movements
• MONDO:0020719 susceptibility to Hirschsprung disease --> obsolete susceptibility to Hirschsprung disease
• MONDO:0022932 davenport-Donlan syndrome --> Davenport-Donlan syndrome
• MONDO:0024236 degenerative disorder --> obsolete degenerative disorder
• MONDO:0024624 atrophy of lacrimal gland --> obsolete atrophy of lacrimal gland
• MONDO:0033571 skeletal muscle glycogen content and metabolism quantitative trait locus --> obsolete skeletal muscle glycogen content and metabolism quantitative trait locus