monarch-initiative/mondo: v2024-09-03

<details> <summary>New terms: 120</summary>

| Term | ----| | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, dog (MONDO:1010746) | | multiple evanescent white dot syndrome (MONDO:0971128) | | autosomal dominant dopa-responsive dystonia (MONDO:0971063) | | diffuse unilateral subacute neuroretinitis (MONDO:0971127) | | hereditary sensory and autonomic neuropathy, SCN9A-related, dog (MONDO:1011032) | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, sheep (MONDO:1010749) | | early onset cataract HSF4-related, dog (MONDO:1011269) | | X-linked severe combined immunodeficiency disease, IL2RG-related, pig (MONDO:1010732) | | Ehlers-Danlos syndrome, kyphoscoliotic type, PLOD1-related, horse (MONDO:1010788) | | chondrodysplasia FGFR3-related, cattle (MONDO:1011199) | | colorectal cancer, MLH1-related, Rhesus monkey (MONDO:1010957) | | methemoglobinemia, CYB5R3-related, dog (MONDO:1010670) | | isolated retinal racemose hemangioma (MONDO:0971123) | | progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN (MONDO:0971138) | | pilocytic astrocytoma with histological features of anaplasia (MONDO:0971118) | | bilateral diffuse uveal melanocytic proliferation disease (MONDO:0971131) | | PRC-2 complex-related overgrowth spectrum (MONDO:0971047) | | isolated segmental infantile hemangioma (MONDO:0971133) | | Ehlers-Danlos syndrome, classic type, COL5A2-related, cattle (MONDO:1010798) | | congenital hypothyroidism, DUOX2-related, pig (MONDO:1010617) | | hypertrophic cardiomyopathy, SGCD-related, golden hamster (MONDO:1010511) | | episodic memory defect leukoencephalopathy (MONDO:0971077) | | muscular dystrophy, limb-girdle, autosomal recessive 29 (MONDO:0971171) | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, domestic cat (MONDO:1010747) | | spinocerebellar ataxia, CAPN1-related, dog (MONDO:1011021) | | bleeding disorder P2RY12-related, dog (MONDO:1010667) | | hypermobility spectrum disorder (MONDO:1040027) | | megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency (MONDO:0971066) | | oculocutaneous albinism, OCA2-related, Mexican tetra (MONDO:1011041) | | Phelan-McDermid syndrome due to 22q13.3 deletion (MONDO:0971068) | | neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (MONDO:0971172) | | acute megakaryoblastic leukemia in adult (MONDO:0971091) | | X-linked severe combined immunodeficiency disease, IL2RG-related, golden hamster (MONDO:1010730) | | X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle (MONDO:1010755) | | nemaline myopathy, NEB-related, dog (MONDO:1010935) | | osteogenesis imperfecta SERPINH1-related, dog (MONDO:1011196) | | well-differentiated papillary mesothelial tumour of the pleura (MONDO:0971140) | | borderline vascular tumor (MONDO:0971116) | | thrombopathia, RASGRP2-related, cattle (MONDO:1010674) | | intraoral basal cell carcinoma (MONDO:0971111) | | congenital increased muscular tonus, MYBPC1-related, cattle (MONDO:1010933) | | torpedo maculopathy (MONDO:0971125) | | peritoneal mesothelioma in situ (MONDO:0971145) | | X-linked severe combined immunodeficiency disease, IL2RG-related, dog (MONDO:1010731) | | thrombopathia, RASGRP2-related, dog (MONDO:1010673) | | prostate cancer, hereditary, X-linked 3 (MONDO:0971170) | | congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related, dog (MONDO:1010616) | | severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome (MONDO:0971137) | | 6q25.1 microdeletion syndrome (MONDO:0971095) | | Ehlers-Danlos syndrome, classic type, COL5A1-related, dog (MONDO:1010793) | | developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (MONDO:0971062) | | hypogonadotropic hypogonadism, KISS1-related, pig (MONDO:1011129) | | multiple mitochondrial dysfunctions syndrome 9b (MONDO:0971174) | | common arterial trunk with aortic dominance (MONDO:0971107) | | oculocutaneous albinism, OCA2-related, dog (MONDO:1011042) | | immunodeficiency IL17RA-related, cattle (MONDO:1010742) | | pleural mesothelioma in situ (MONDO:0971143) | | ocular surface squamous neoplasia (MONDO:0971056) | | cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (MONDO:0971094) | | immunodeficiency 122 (MONDO:0971151) | | neurocristopathy, CHD7-related, cattle (MONDO:1012577) | | nephropathy, COL4A4-related, dog (MONDO:1011107) | | Ehlers-Danlos syndrome, classic type, COL5A2-related, dog (MONDO:1010797) | | sycosis barbae (MONDO:1050000) | | Happle-Tinschert syndrome (MONDO:1030006) | | perifoveal exudative vascular anomalous complex (MONDO:0971124) | | common arterial trunk with pulmonary dominance and interrupted aortic arch (MONDO:0971108) | | choroidal osteoma (MONDO:0971130) | | methemoglobinemia, CYB5R3-related, domestic cat (MONDO:1010671) | | sensory neuropathy, RETREG1-related, dog (MONDO:1011027) | | progressive retinal atrophy, TTC8-related, dog (MONDO:1011273) | | Grisel syndrome (MONDO:0971080) | | X-linked disease, non-human animal (MONDO:1012575) | | severe combined immunodeficiency disease, RAG1-related, dog (MONDO:1010738) | | coat color dilution, MLPH-related, dog (MONDO:1011033) | | ichthyosis TGM1-related, dog (MONDO:1010756) | | autoinflammation with arthritis and vasculitis (MONDO:0971173) | | muscular hypertrophy, MSTN-related, cattle (MONDO:1010914) | | Phelan-McDermid syndrome due to SHANK3 mutation (MONDO:0971069) | | benign vascular tumor (MONDO:0971115) | | X-linked hypohidrotic ectodermal dysplasia, EDA-related, dog (MONDO:1010754) | | prostate cancer, hereditary (MONDO:0700275) | | neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (MONDO:0971150) | | isolated angioid streaks (MONDO:0971126) | | polycystic kidney disease 8 (MONDO:0971178) | | single isolated optic neuritis (MONDO:0971049) | | stellate multiform amelanotic choroidopathy (MONDO:0971129) | | verruga peruana (MONDO:0971058) | | primary ciliary dyskinesia CCDC39-related, dog (MONDO:1011137) | | hyperphagia leading to hepatic steatosis, pig (MONDO:1010406) | | hypertrophic cardiomyopathy, SGCD-related, pig (MONDO:1010512) | | arterial tortuosity-bone fragility syndrome (MONDO:0971179) | | orofacial clefting-cardiac anomalies-facial dysmorphism syndrome (MONDO:0971064) | | Nicolau syndrome (MONDO:0971103) | | localized pleural mesothelioma (MONDO:0971141) | | maple syrup urine disease, BCKDHA-related, cattle (MONDO:1010700) | | mosaic SMO syndrome (MONDO:1030005) | | retinopathy, RDH5-related, domestic cat (MONDO:1011284) | | hypohidrotic ectodermal dysplasia, non-human animal (MONDO:1012576) | | ichthyosis SLC27A4-related, dog (MONDO:1010786) | | dilated cardiomyopathy PLN-related, dog (MONDO:1010510) | | Ehlers-Danlos syndrome, classic type, COL5A1-related, domestic cat (MONDO:1010794) | | MGP-related spondyloepiphyseal dysplasia (MONDO:0971093) | | hearing loss, autosomal recessive 125 (MONDO:0971152) | | soft and hard cleft palate (MONDO:0971092) | | diffused pleural mesothelioma (MONDO:0971142) | | immunodeficiency 123 with HPV-related verrucosis (MONDO:0971177) | | ichthyosis NIPAL4-related, dog (MONDO:1010787) | | ovarian dysgenesis 11 (MONDO:0971176) | | Ehlers-Danlos syndrome, classic-like, TNXB-related, dog (MONDO:1010795) | | proteoglycan-related bone disorder (MONDO:0971119) | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, cattle (MONDO:1010748) | | neonatal renal venous thrombosis (MONDO:0971105) | | relapsing isolated optic neuritis (MONDO:0971050) | | chondrodysplasia FGFR3-related, sheep (MONDO:1011200) | | spastic paraplegia 30b, autosomal recessive (MONDO:0971149) | | severe combined immunodeficiency disease, pig (MONDO:1010739) | | cardiomyopathy, dilated, 2K (MONDO:0971175) | | oculocutaneous albinism, non-human animal (MONDO:1012579) | | hepatic cutaneous porphyria (MONDO:0971154) |

</details>

<details> <summary>Terms renamed: 13</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0018603 | interstitial lung disease due to SP-C deficiency | SFTPC- related interstitial lung disease | | MONDO:0035547 | predisposition to severe viral infection due to IRF7 deficiency | obsolete predisposition to severe viral infection due to IRF7 deficiency | | MONDO:0004587 | hereditary night blindness | obsolete hereditary night blindness | | MONDO:0957825 | deafness, autosomal recessive 121 | hearing loss, autosomal recessive 121 | | MONDO:0017297 | chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref="Orphanet:284448"} | chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids | | MONDO:0022900 | athyreotic congenital hypothyroidism | obsolete athyreotic congenital hypothyroidism | | MONDO:0020716 | familial thyroid dyshormonogenesis 1 | thyroid dyshormonogenesis 1 | | MONDO:0009917 | autosomal recessive pseudohypoaldosteronism type 1 | pseudohypoaldosteronism, type IB1, autosomal recessive | | MONDO:0000424 | inborn vitamin B12 deficiency | obsolete inborn vitamin B12 deficiency | | MONDO:0015068 | neuroendocrine tumor of rectum, well differentiated, low or intermediate grade | rectal neuroendocrine tumor | | MONDO:0957319 | pseudohypoaldosteronism, type I | obsolete pseudohypoaldosteronism, type I | | MONDO:0011292 | dermatitis, atopic | obsolete dermatitis, atopic | | MONDO:0018774 | erythrokeratodermia-cardiomyopathy syndrome | obsolete erythrokeratodermia-cardiomyopathy syndrome |

</details>

<details> <summary>Text definitions added: 67</summary>

| Term | New Text Definition | ----|----| | patent ductus venosus (MONDO:0011089) | Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation. | | prostate cancer, hereditary (MONDO:0700275) | An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. | | severe combined immunodeficiency disease, RAG1-related, dog (MONDO:1010738) | Any severe combined immunodeficiency disease in dogs in which the cause of the disease is a mutation in the RAG1 gene. | | chondrodysplasia FGFR3-related, sheep (MONDO:1011200) | Hereditary chondrodysplasia characterized by severe skeletal abnormalities in sheep due to a variation in the FGFR3 gene. | | X-linked disease, non-human animal (MONDO:1012575) | X-linked disease that occurs in non-human animals. | | methemoglobinemia, CYB5R3-related, dog (MONDO:1010670) | Any methemoglobinemia in dogs in which the cause of the disease is a mutation in the CYB5R3 gene. | | X-linked severe combined immunodeficiency disease, IL2RG-related, dog (MONDO:1010731) | Any severe combined immunodeficiency disease in dogs in which the cause of the disease is a mutation in the IL2RG gene. | | hereditary sensory and autonomic neuropathy, SCN9A-related, dog (MONDO:1011032) | Congenital insensitivity to pain (CIP) in dogs due to a variation in the SCN9A gene. | | nemaline myopathy, NEB-related, dog (MONDO:1010935) | Hereditary generalized muscle atrophy characterized by the histological presence of rod-like inclusion bodies in skeletal muscle fibers in dogs due a variation in the NEB gene. | | hypertrophic cardiomyopathy, SGCD-related, golden hamster (MONDO:1010511) | Any hypertrophic cardiomyopathy in golden hamsters in which the cause of the disease is a mutation in the SGCD gene. | | early onset cataract HSF4-related, dog (MONDO:1011269) | Hereditary progressive, bilateral lens opacity affecting dogs within the first few months of life due to a mutation in the HSF4 gene. | | chondrodysplasia FGFR3-related, cattle (MONDO:1011199) | Hereditary chondrodysplasia in cattle associated with a variation in the FGFR3 gene. | | hyperphagia leading to hepatic steatosis, pig (MONDO:1010406) | Hereditary increased feed intake leading to fatty liver in pigs due to a variation in the MC4R gene. | | congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related, dog (MONDO:1010616) | Any congenital hypothyroidism in dogs in which the cause of the disease is a mutation in the SCL5AG gene. | | muscular hypertrophy, MSTN-related, cattle (MONDO:1010914) | Hereditary abnormal increase in muscular tissue caused by enlargement of existing cells in cattle due to a variation in the MSTN gene. | | nephropathy, COL4A4-related, dog (MONDO:1011107) | Any nephropathy in dogs in which the cause of the disease is a mutation in the COL4A4 gene. | | Ehlers-Danlos syndrome, classic-like, TNXB-related, dog (MONDO:1010795) | Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the TNXB gene. | | oculocutaneous albinism, non-human animal (MONDO:1012579) | A group of inherited disorders of melanin synthesis, characterized by hypopigmentation of skin, hair and eyes. | | sycosis barbae (MONDO:1050000) | Folliculitis of the beard and/or mustache areas caused by a bacterial infection, usually caused by Staphylococcus aureus. | | hypohidrotic ectodermal dysplasia, non-human animal (MONDO:1012576) | Hypohidrotic ectodermal dysplasia that occurs in non-human animals. | | dilated cardiomyopathy PLN-related, dog (MONDO:1010510) | Any dilated cardiomyopathy in dogs in which the cause of the disease is a mutation in the PLN gene. | | thrombopathia, RASGRP2-related, cattle (MONDO:1010674) | Any thrombopathia in cattle in which the cause of the disease is a mutation in the RASGRP2 gene. | | congenital hypothyroidism, DUOX2-related, pig (MONDO:1010617) | Any congenital hypothyroidism in pigs in which the cause of the disease is a mutation in the DUOX2 gene. | | Ehlers-Danlos syndrome, classic type, COL5A1-related, domestic cat (MONDO:1010794) | Any Ehlers-Danlos syndrome in domestic cats in which the cause of the disease is a mutation in the COL5A1 gene. | | neurocristopathy, CHD7-related, cattle (MONDO:1012577) | Any neurocristopathy in cattle in which the cause of the disease is a mutation in the CHD7 gene. | | ichthyosis TGM1-related, dog (MONDO:1010756) | Hereditary severe hyperkeratosis in dogs due to a variation in the TGM1 gene. | | hypogonadotropic hypogonadism, KISS1-related, pig (MONDO:1011129) | Delayed or abolished puberty in male pigs due to a variation in the KISS1 gene. | | immunodeficiency IL17RA-related, cattle (MONDO:1010742) | Hereditary severe ulcerative dermatitis, growth restriction and increased infectious disease susceptibility in cattle due to a variation in the IL17RA gene. | | Ehlers-Danlos syndrome, classic type, COL5A2-related, cattle (MONDO:1010798) | Any Ehlers-Danlos syndrome in cattle in which the cause of the disease is a mutation in the COL5A2 gene. | | ichthyosis SLC27A4-related, dog (MONDO:1010786) | Hereditary generalized severe hyperkeratosis with a formation of a strongly wrinkled, thickened and scaling skin in dogs due to a variation in the SLC27A4 gene. | | thrombopathia, RASGRP2-related, dog (MONDO:1010673) | Any thrombopathia in dogs in which the cause of the disease is a mutation in the RASGRP2 gene. | | epidermodysplasia verruciformis, susceptibility to (MONDO:0100043) | An inherited susceptibility or predisposition to developing epidermodysplasia verruciformis. | | severe combined immunodeficiency disease, pig (MONDO:1010739) | This disorder was engineered via the TALEN technology to create mutations in the RAG1 and/or RAG2 genes for the purpose of establishing a porcine model of SCID. | | congenital increased muscular tonus, MYBPC1-related, cattle (MONDO:1010933) | Hereditary weakness, stiffness, trembling in cattle in which the cause of the disease in a variation in the MYBPC1 gene. | | verruga peruana (MONDO:0971058) | A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. | | Happle-Tinschert syndrome (MONDO:1030006) | Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234C>T, p.Leu412Phe). | | hypermobility spectrum disorder (MONDO:1040027) | An array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily function may occur as well. These diseases are scored using the Beighton scoring system and one of more secondary musculoskeletal manifestations including post-traumatic symptoms, pain, altered proprioception, and a variety of other characteristics like pes planus, kyphosis, scoliosis, or joint misalignment. | | oculocutaneous albinism, OCA2-related, Mexican tetra (MONDO:1011041) | Hereditary lack of melanin pigmentation in Mexican tetra due to a variation in the OCA2 gene. | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, dog (MONDO:1010746) | Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the ADAMTS2 gene. | | coat color dilution, MLPH-related, dog (MONDO:1011033) | Hereditary predisposition to color dilution alopecia in dogs due to a variation in the MLPH gene. | | X-linked severe combined immunodeficiency disease, IL2RG-related, golden hamster (MONDO:1010730) | Any severe combined immunodeficiency disease in golden hamsters in which the cause of the disease is a mutation in the IL2RG gene. | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, cattle (MONDO:1010748) | Any Ehlers-Danlos syndrome in cattle in which the cause of the disease is a mutation in the ADAMTS2 gene. | | X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle (MONDO:1010755) | Hereditary sparse hair and dental aplasia in cattle associated with a variation in the EDA gene. | | autosomal dominant dopa-responsive dystonia (MONDO:0971063) | A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. | | methemoglobinemia, CYB5R3-related, domestic cat (MONDO:1010671) | Any methemoglobinemia in cats in which the cause of the disease is a mutation in the CYB5R3 gene. | | X-linked severe combined immunodeficiency disease, IL2RG-related, pig (MONDO:1010732) | Any severe combined immunodeficiency disease in pigs in which the cause of the disease is a mutation in the IL2RG gene. | | progressive retinal atrophy, TTC8-related, dog (MONDO:1011273) | Any progressive retinal atrophy in dogs in which the cause of the disease is a mutation in the TTC8 gene. | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, sheep (MONDO:1010749) | Any Ehlers-Danlos syndrome in sheep in which the cause of the disease is a mutation in the ADAMTS2 gene. | | mosaic SMO syndrome (MONDO:1030005) | A somatic mosaic condition caused by a postzygotic mutation (c.1234 C>T p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo‐ or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb‐length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism. | | bleeding disorder P2RY12-related, dog (MONDO:1010667) | Hereditary thrombopathia associated with a defect in the ADP receptor P2Y12 in dogs due to a variation in the P2Y12 gene. | | colorectal cancer, MLH1-related, Rhesus monkey (MONDO:1010957) | Hereditary nonpolyposis colonic adenocarcinoma in Rhesus monkey due to a variation in the MLH1 gene. | | Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, domestic cat (MONDO:1010747) | Any Ehlers-Danlos syndrome in domestic cats in which the cause of the disease is a mutation in the ADAMTS2 gene. | | oculocutaneous albinism, OCA2-related, dog (MONDO:1011042) | Hereditary lightly pigmented coat, lips and nose and blue eyes in dogs due to a variation in the OCA2 gene. | | developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (MONDO:0971062) | An intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism in which the cause of the disease is a point mutation in the gene NR4A2. | | maple syrup urine disease, BCKDHA-related, cattle (MONDO:1010700) | Hereditary progressive neurological disease, resulting in death within a few days of birth due to a deficiency of activity of the mitochondrial enzyme branched-chain alpha-keto acid dehydrogenase (BCKADH) leading to elevated concentrations of branched chain alpha-keto acids and their precursors, the branched chain amino acids, valine, leucine and isoleucine in blood and tissues in cattle due to a variation in the BCKDHA gene. | | X-linked hypohidrotic ectodermal dysplasia, EDA-related, dog (MONDO:1010754) | Hereditary sparse hair and dental aplasia in dogs associated with a variation in the EDA gene. | | spinocerebellar ataxia, CAPN1-related, dog (MONDO:1011021) | Hereditary late onset progressive symmetric ataxia, truncal sway, pelvic limb hypermetria, and impaired balance in dogs due to a variation in the CAPN1 gene. | | Ehlers-Danlos syndrome, classic type, COL5A2-related, dog (MONDO:1010797) | Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the COL5A2 gene. | | inborn disorder of cobalamin metabolism and transport (MONDO:0019220) | An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism. | | retinopathy, RDH5-related, domestic cat (MONDO:1011284) | Hereditary marked delay in recovery of dark adaptation and degeneration of the area centralis (equivalent to the human macula) in cats due to a variation in the RDH5 gene. | | hypertrophic cardiomyopathy, SGCD-related, pig (MONDO:1010512) | Any hypertrophic cardiomyopathy in pigs in which the cause of the disease is a mutation in the SGCD gene. | | osteogenesis imperfecta SERPINH1-related, dog (MONDO:1011196) | Any osteogenesis imperfecta in dogs in which the cause of the disease is a mutation in the SERPINH1 gene. | | Ehlers-Danlos syndrome, classic type, COL5A1-related, dog (MONDO:1010793) | Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the COL5A1 gene. | | Ehlers-Danlos syndrome, kyphoscoliotic type, PLOD1-related, horse (MONDO:1010788) | Any Ehlers-Danlos syndrome in horses in which the cause of the disease is a mutation in the PLOD1 gene. | | sensory neuropathy, RETREG1-related, dog (MONDO:1011027) | Hereditary neurodegenerative disease affecting peripheral sensory and autonomic neurons in dogs due to a variation in the RETREG1 gene. | | ichthyosis NIPAL4-related, dog (MONDO:1010787) | Hereditary hyperkeratosis characterized by generalized scaling in dogs due to a variation in the NIPAL4 gene. | | primary ciliary dyskinesia CCDC39-related, dog (MONDO:1011137) | Any primary ciliary dyskinesia in dogs in which the cause of the disease is a mutation in the CCDC39 gene. |

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<details> <summary>Text definitions changed: 11</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | pseudohypoaldosteronism type 1 (MONDO:0019161) | Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. | A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration. | | restrictive dermopathy 1 (MONDO:0800042) | A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. | A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. | | anemia, nonspherocytic hemolytic, due to G6PD deficiency (MONDO:0010480) | Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. | Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. | | tuberous sclerosis (MONDO:0001734) | Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. | Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. | | dystonia 5 (MONDO:0007495) | Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. | An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene. | | dermatitis, atopic, 3 (MONDO:0011597) | An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p. | An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p. | | G6PD deficiency (MONDO:0005775) | An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. | An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. | | obsolete athyreotic congenital hypothyroidism (MONDO:0022900) | Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) | OBSOLETE. Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) | | atopic eczema (MONDO:0004980) | A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. | A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life. | | sleep-wake disorder (MONDO:0003406) | Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. | Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. These can include dyssomnias such as circadian rhythm disorders, hypersomnia, and sleep apnea and parasomnias such as bruxism and rapid eye movement sleep disorder. | | Phelan-McDermid syndrome (MONDO:0011652) | Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. | A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene. |

</details>

<details> <summary>Obsoleted terms with replacement: 6</summary>

| Term | Replacement | ----|----| | obsolete erythrokeratodermia-cardiomyopathy syndrome (MONDO:0018774) | cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis (MONDO:0014355) | | obsolete inborn vitamin B12 deficiency (MONDO:0000424) | inborn disorder of cobalamin metabolism and transport (MONDO:0019220) | | obsolete predisposition to severe viral infection due to IRF7 deficiency (MONDO:0035547) | immunodeficiency 39 (MONDO:0014597) | | obsolete hereditary night blindness (MONDO:0004587) | congenital stationary night blindness (MONDO:0016293) | | obsolete pseudohypoaldosteronism, type I (MONDO:0957319) | pseudohypoaldosteronism type 1 (MONDO:0019161) | | obsolete dermatitis, atopic (MONDO:0011292) | atopic eczema (MONDO:0004980) |

</details>

<details> <summary>Obsoleted term without replacement: 1</summary>

| Term | ----| | obsolete athyreotic congenital hypothyroidism (MONDO:0022900) |

</details>

<details> <summary>New obsoletion candidate term: 1</summary>

| Term | ----| | trichorhinophalangeal syndrome, type III (MONDO:0008597) |

</details>

<details> <summary>Terms that were previously candidate for obsoletion and are now not anymore: 2</summary>

| Term | ----| | circadian rhythm sleep disorder (MONDO:0024361) | | acyl-CoA binding domain containing protein 5 deficiency (MONDO:0100112) |

</details>

<details> <summary>" 'has characteristic' some rare " axioms were removed from the ontology. Please use the rare disease subset for all rare disease annotations. (5 examples of removed axioms below) </summary>

| Subject| Predicate| Object| ----|----|----| | large congenital melanocytic nevus (MONDO:0044792) | has characteristic (RO:0000053) | rare (MONDO:0021136) | | congenital diarrhea 7 with exudative enteropathy (MONDO:0014375) | has characteristic (RO:0000053) | rare (MONDO:0021136) | | maturity-onset diabetes of the young (MONDO:0018911) | has characteristic (RO:0000053) | rare (MONDO:0021136) | | exudative vitreoretinopathy (MONDO:0019516) | has characteristic (RO:0000053) | rare (MONDO:0021136) | | epilepsy syndrome (MONDO:0015650) | has characteristic (RO:0000053) | rare (MONDO:0021136) |

</details>