monarch-initiative/mondo: v2025-09-02

<details> <summary>New terms: 12</summary>

| Term | ----| | INTU-related skeletal ciliopathy (MONDO:1060154) | | schizoaffective depressive disorder (MONDO:1060152) | | FGFR2-related Pfeiffer syndrome (MONDO:1060147) | | FGFR1-related Pfeiffer syndrome (MONDO:1060146) | | retinitis pigmentosa 7, digenic (MONDO:1060144) | | NOTCH1-related AOS spectrum disorder (MONDO:1060150) | | schizoaffective bipolar disorder (MONDO:1060151) | | multiple symmetric lipomatosis with partial lipodystrophy (MONDO:1060153) | | Leber congenital amaurosis 18 (MONDO:1060145) | | empty nose syndrome (MONDO:1060148) | | ACAN-related short stature spectrum (MONDO:1060149) | | GRIN2B-related complex neurodevelopmental disorder (MONDO:0700350) |

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<details> <summary>Terms renamed: 10</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:1060139 | GRIN2A-related disorder | GRIN2A-related complex neurodevelopmental disorder | | MONDO:0009826 | PA polymorphism of alpha-2-globulin | obsolete PA polymorphism of alpha-2-globulin | | MONDO:1060138 | GRIN disorder | GRIN-related complex neurodevelopmental disorder | | MONDO:0032756 | long qt syndrome 8 | long QT syndrome 8 | | MONDO:0011627 | autism, susceptibility to, 5 | intellectual developmental disorder with autism and speech delay | | MONDO:0005104 | aJCC grade 1 sarcoma | sarcoma G1 | | MONDO:0008150 | osteoglophonic dwarfism | osteoglophonic dysplasia | | MONDO:0007828 | indifference to pain, congenital, autosomal dominant | obsolete indifference to pain, congenital, autosomal dominant | | MONDO:1060123 | GRIN1-related neurodevelopmental disorder | GRIN1-related complex neurodevelopmental disorder | | MONDO:0032794 | leber congenital amaurosis 19 | Leber congenital amaurosis 19 |

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<details> <summary>Text definitions added: 20</summary>

| Term | New Text Definition | ----|----| | retinitis pigmentosa 7, digenic (MONDO:1060144) | A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss. | | schizoaffective depressive disorder (MONDO:1060152) | A schizoaffective disorder marked by episodes of only major depression. | | multiple symmetric lipomatosis with partial lipodystrophy (MONDO:1060153) | A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene. | | neuroocular syndrome 1 (MONDO:0971007) | A neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly. | | congenital insensitivity to pain syndrome, Marsili type (MONDO:0958106) | A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat. | | pediatric arterial ischemic stroke (MONDO:0018585) | A rare ischemic disease characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. | | infertility due to extratesticular cause (MONDO:0001877) | A male infertility disorder caused by conditions external to the testis, such as hormonal imbalances, reproductive tract obstructions, or systemic illness. | | orofaciodigital syndrome 17 (MONDO:0033375) | An orofaciodigital syndrome caused by a mutation in the INTU gene. | | male infertility due to acephalic spermatozoa (MONDO:0035153) | A male infertility disorder characterized by defective sperm morphology, specifically the absence of the sperm head which prevents natural or assisted fertilization. | | INTU-related skeletal ciliopathy (MONDO:1060154) | A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings. | | NOTCH1-related AOS spectrum disorder (MONDO:1060150) | A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects). | | GRIN2B-related complex neurodevelopmental disorder (MONDO:0700350) | A complex neurodevelopmental disorder caused by a variation in the GRIN2B gene | | empty nose syndrome (MONDO:1060148) | A rare iatrogenic disease characterized by paradoxical nasal obstruction and symptoms including air hunger and suffocation-like breathing sensation, nasal dryness and crusting, burning pain or cold airflow sensation, impaired sleep and cognitive function and severe anxiety and depression, and typically occurs after surgical reduction or removal of nasal turbinates. | | intellectual developmental disorder with autism and speech delay (MONDO:0011627) | A neurodevelopmental disorder caused by the mutation in the TBR1 gene and characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. | | ACAN-related short stature spectrum (MONDO:1060149) | A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type. | | FGFR2-related Pfeiffer syndrome (MONDO:1060147) | Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR2 gene. | | Leber congenital amaurosis 18 (MONDO:1060145) | A Leber congenital amaurosis that is caused by a variation in the PRPH2 gene. | | FGFR1-related Pfeiffer syndrome (MONDO:1060146) | Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR1 gene. | | schizoaffective bipolar disorder (MONDO:1060151) | A schizoaffective disorder marked by episodes of hypomania or mania and sometimes major depression. | | Lichtenstein-Knorr syndrome (MONDO:0014572) | An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss. |

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<details> <summary>Text definitions changed: 13</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | male infertility with teratozoospermia due to single gene mutation (MONDO:0018394) | Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. | A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. | | benign paroxysmal tonic upgaze of childhood with ataxia (MONDO:0008206) | Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. | A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. | | coccygodynia (MONDO:0022792) | Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. | A rare pain disorder characterized by pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury. | | spondyloepimetaphyseal dysplasia, aggrecan type (MONDO:0013014) | A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. | A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. | | spondyloepiphyseal dysplasia, Kimberley type (MONDO:0012019) | Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. | A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy. | | osteoglophonic dysplasia (MONDO:0008150) | Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. | A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. | | exanthem (MONDO:0006547) | Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. | A skin disease characterized by widespread, often symmetrical skin eruption that typically occurs acutely in association with a systemic disease, especially infectious or immune-mediated conditions. | | short-rib thoracic dysplasia 20 with polydactyly (MONDO:0044328) | Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). | A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. | | partial chromosome Y deletion (MONDO:0015607) | Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. | A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. | | mucolipidosis type IV (MONDO:0009653) | A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. | A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria. | | multiple symmetric lipomatosis (MONDO:0007908) | Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). | A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). | | sarcoma G1 (MONDO:0005104) | Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) | A sarcoma with a total score of 2 or 3 according to the FNCLCC guidelines. | | Adams-Oliver syndrome 5 (MONDO:0014459) | Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. | Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. |

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<details> <summary>Terms obsoleted with replacement: 1</summary>

| Term | Replacement | ----|----| | obsolete indifference to pain, congenital, autosomal dominant (MONDO:0007828) | congenital insensitivity to pain syndrome, Marsili type (MONDO:0958106) |

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<details> <summary>Terms obsoleted without replacement: 1</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0009826 | obsolete PA polymorphism of alpha-2-globulin |

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<details> <summary>New obsoletion candidates: 9</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0001859 | algoneurodystrophy | | MONDO:0700294 | CTCF-related neurodevelopmental disorder | | MONDO:0018773 | autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | | MONDO:0034820 | cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | | MONDO:0035529 | infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | | MONDO:0035660 | GNAO1-related developmental delay-seizures-movement disorder spectrum | | MONDO:0035661 | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | | MONDO:0035774 | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | | MONDO:0957221 | spastic paraplegia 70, autosomal recessive |

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<details> <summary>Terms that were previously candidate for obsoletion and are now not anymore: 0</summary> </details>