v2021-12-01

Overview:

• Number of new terms: 47
• Number of changed labels: 65
• Number of changed definitions: 57
• Number obsoleted terms: 53
• Number of new obsoletion candidates: 227
• Number of terms who were previously candidate for obsoletion and are now not anymore: 53

New terms

Mondo ID	Label	Definition
MONDO:0023880	WHIM syndrome
MONDO:0023910	Martsolf syndrome
MONDO:0023961	visceral neuropathy, familial
MONDO:0024189	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
MONDO:0024193	portal hypertension, noncirrhotic
MONDO:0100368	recessive RPE65 retinopathy	A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
MONDO:0100369	iatrogenic or non-iatrogenic	A iatrogenic or non-iatrogenic form of a disease.
MONDO:0100426	iatrogenic	A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100427	non-iatrogenic	A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.
MONDO:0100428	progressive bulbar palsy of childhood	A progressive bulbar palsy of childhood that occurs during childhood.
MONDO:0100430	fibrotic liver disease	A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.
MONDO:0100431	migraine without aura	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.
MONDO:0100432	FNIP1-associated syndrome	Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.
MONDO:0100433	ACTB-associated syndromic thrombocytopenia	A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
MONDO:0100435	Schwartz-Jampel syndrome type 1
MONDO:0100436	cataract 2, multiple types	Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
MONDO:0100437	RPGR retinopathy	A retinopathy caused by a variant in the X-linked gene, RPGR.
MONDO:0100438	AIPL1 retinopathy	A retinopathy caused by biallelic variants in the AIPL1 gene.
MONDO:0100439	glycogen storage disease IXa2	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
MONDO:0100441	dominant GUCY2D retinopathy	A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
MONDO:0100442	RP2 retinopathy	A retinopathy caused by variants in the X-linked gene, RP2.
MONDO:0100443	RDH5 retinopathy	A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
MONDO:0100444	RLBP1 retinopathy	A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.
MONDO:0100445	LCA5 retinopathy	A retinopathy caused by biallelic variants in the LCA5 gene.
MONDO:0100446	CNGB3 retinopathy	A retinopathy caused by biallelic variants in the CNGB3 gene.
MONDO:0100447	ATF6 retinopathy	A retinopathy caused by biallelic variants in the AFT6 gene.
MONDO:0100448	RAB28 retinopathy	A retinopathy caused by biallelic variants in the RAB28 gene.
MONDO:0100449	FLVCR1 retinopathy with or without ataxia	A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
MONDO:0100450	CAPN5 vitreoretinopathy	An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
MONDO:0100451	CEP290 ciliopathy	A ciliopathy caused by biallelic variants in the CEP290 gene.
MONDO:0100452	dominant RPE65 retinopathy	A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
MONDO:0100453	recessive GUCY2D retinopathy	A retinopathy caused by biallelic variants in the GUCY2D gene.
MONDO:0100454	GUCY2D retinopathy	Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
MONDO:0100455	neonatal-onset developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.
MONDO:0100456	neonatal encephalopathy with non-epileptic myoclonus	A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
MONDO:0700107	chromosome 19q13.11 deletion syndrome, distal	Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.
MONDO:8000006	WHIM syndrome 1	A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
MONDO:8000008	Martsolf syndrome 1	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
MONDO:8000010	antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
MONDO:8000011	visceral neuropathy, familial, 1, autosomal recessive	A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
MONDO:8000012	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
MONDO:8000013	portal hypertension, noncirrhotic, 1
MONDO:8000014	familial antiphospholipid syndrome	Autosomal dominant form of antiphospholipid syndrome.
MONDO:8000015	46,XY sex reversal 11	Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.
MONDO:8000017	testicular regression syndrome	A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
MONDO:8000018	benign paroxysmal positional vertigo	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
MONDO:8000019	vertigo, benign recurrent, 1

Changed terms

Changed label

Mondo ID	Label	Previous release	New release
MONDO:0000030	sleep-related hypermotor epilepsy	epilepsy, nocturnal frontal lobe	sleep-related hypermotor epilepsy
MONDO:0019040	chromosomal disorder	chromosomal anomaly	chromosomal disorder
MONDO:0000839	obsolete congenital abnormality	congenital abnormality	obsolete congenital abnormality
MONDO:0024633	hypertensive nephropathy	hypertensive renal disease	hypertensive nephropathy
MONDO:0002176	obsolete connective tissue cancer	connective tissue cancer	obsolete connective tissue cancer
MONDO:0004914	celiac artery stenosis from compression by median arcuate ligament of diaphragm	median arcuate ligament syndrome	celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0021199	obsolete disease by anatomical system	disease by anatomical system	obsolete disease by anatomical system
MONDO:0005547	obsolete desmoplastic medulloblastoma	desmoplastic medulloblastoma	obsolete desmoplastic medulloblastoma
MONDO:0005569	obsolete cartilage disease	cartilage disease	obsolete cartilage disease
MONDO:0006674	obsolete benign fibrous mesothelioma	benign fibrous mesothelioma	obsolete benign fibrous mesothelioma
MONDO:0006819	obsolete kernicterus	kernicterus	obsolete kernicterus
MONDO:0007140	obsolete antiphospholipid syndrome	antiphospholipid syndrome	obsolete antiphospholipid syndrome
MONDO:0022800	type 2 collagenopathy	collagenopathy type 2 alpha 1	type 2 collagenopathy
MONDO:0017259	obsolete systemic diseases with anterior uveitis	systemic diseases with anterior uveitis	obsolete systemic diseases with anterior uveitis
MONDO:0017260	obsolete systemic diseases with posterior uveitis	systemic diseases with posterior uveitis	obsolete systemic diseases with posterior uveitis
MONDO:0017261	obsolete systemic diseases with panuveitis	systemic diseases with panuveitis	obsolete systemic diseases with panuveitis
MONDO:0007292	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm	celiac artery stenosis from compression by median arcuate ligament of diaphragm	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0007640	Sorsby fundus dystrophy	Sorsby's fundus dystrophy	Sorsby fundus dystrophy
MONDO:0019686	obsolete type 2 collagen-related bone disorder	type 2 collagen-related bone disorder	obsolete type 2 collagen-related bone disorder
MONDO:0007889	obsolete lentigines	lentigines	obsolete lentigines
MONDO:0008656	obsolete benign paroxysmal positional nystagmus	benign paroxysmal positional nystagmus	obsolete benign paroxysmal positional nystagmus
MONDO:0008674	obsolete WHIM syndrome	WHIM syndrome	obsolete WHIM syndrome
MONDO:0008929	obsolete cataract-intellectual disability-hypogonadism syndrome	cataract-intellectual disability-hypogonadism syndrome	obsolete cataract-intellectual disability-hypogonadism syndrome
MONDO:0009466	obsolete neuronal intestinal pseudoobstruction	neuronal intestinal pseudoobstruction	obsolete neuronal intestinal pseudoobstruction
MONDO:0010107	obsolete testicular regression syndrome	testicular regression syndrome	obsolete testicular regression syndrome
MONDO:0010598	glycogen storage disease IXa1	glycogen storage disease IXa	glycogen storage disease IXa1
MONDO:0011278	obsolete bile duct cysts	bile duct cysts	obsolete bile duct cysts
MONDO:0016215	spastic quadriplegic cerebral palsy	spastic quadriplegia	spastic quadriplegic cerebral palsy
MONDO:0011379	obsolete medullary cystic kidney disease 2	medullary cystic kidney disease 2	obsolete medullary cystic kidney disease 2
MONDO:0011675	Charcot-Marie-Tooth Disease, axonal, type 2GG	Charcot-Marie-Tooth disease dominant intermediate A	Charcot-Marie-Tooth Disease, axonal, type 2GG
MONDO:0011947	obsolete HNP1	HNP1	obsolete HNP1
MONDO:0012356	obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria	glomerulocystic kidney disease with hyperuricemia and isosthenuria	obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria
MONDO:0012461	obsolete bulimia nervosa, susceptibility to, 2	bulimia nervosa, susceptibility to, 2	obsolete bulimia nervosa, susceptibility to, 2
MONDO:0014424	obsolete congenital deficiency in alpha-fetoprotein	congenital deficiency in alpha-fetoprotein	obsolete congenital deficiency in alpha-fetoprotein
MONDO:0014425	obsolete hereditary persistence of alpha-fetoprotein	hereditary persistence of alpha-fetoprotein	obsolete hereditary persistence of alpha-fetoprotein
MONDO:0014554	obsolete infantile multisystem neurologic-endocrine-pancreatic disease	infantile multisystem neurologic-endocrine-pancreatic disease	obsolete infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0014897	obsolete portal hypertension, noncirrhotic	portal hypertension, noncirrhotic	obsolete portal hypertension, noncirrhotic
MONDO:0017368	obsolete systemic disease with skin involvement	systemic disease with skin involvement	obsolete systemic disease with skin involvement
MONDO:0015939	obsolete systemic autoimmune disease	systemic autoimmune disease	obsolete systemic autoimmune disease
MONDO:0016212	obsolete cyclosporosis	cyclosporosis	obsolete cyclosporosis
MONDO:0016788	obsolete genetic hyperferritinemia without iron overload	genetic hyperferritinemia without iron overload	obsolete genetic hyperferritinemia without iron overload
MONDO:0018651	obsolete lipoyl transferase 2 deficiency	lipoyl transferase 2 deficiency	obsolete lipoyl transferase 2 deficiency
MONDO:0018652	obsolete biological anomaly without phenotypic characterization	biological anomaly without phenotypic characterization	obsolete biological anomaly without phenotypic characterization
MONDO:0018805	bile duct cyst	choledochal cyst	bile duct cyst
MONDO:0020227	obsolete systemic disease with cataract	systemic disease with cataract	obsolete systemic disease with cataract
MONDO:0021194	obsolete disease by subcellular system affected	disease by subcellular system affected	obsolete disease by subcellular system affected
MONDO:0021195	obsolete disease by cellular process disrupted	disease by cellular process disrupted	obsolete disease by cellular process disrupted
MONDO:0021196	obsolete disease by molecular activity disrupted	disease by molecular activity disrupted	obsolete disease by molecular activity disrupted
MONDO:0021197	obsolete disease by cellular component affected	disease by cellular component affected	obsolete disease by cellular component affected
MONDO:0022399	retinal ciliopathy due to mutation in the RPGR gene	retinal ciliopathy due to mutation in the rpgr gene	retinal ciliopathy due to mutation in the RPGR gene
MONDO:0022546	obsolete basal cell nevus anodontia abnormal bone mineralization	basal cell nevus anodontia abnormal bone mineralization	obsolete basal cell nevus anodontia abnormal bone mineralization
MONDO:0022605	obsolete brachymetapody anodontia hypotrichosis albinoidism	brachymetapody anodontia hypotrichosis albinoidism	obsolete brachymetapody anodontia hypotrichosis albinoidism
MONDO:0023031	obsolete dysostosis acral with facial and genital abnormalities	dysostosis acral with facial and genital abnormalities	obsolete dysostosis acral with facial and genital abnormalities
MONDO:0024505	obsolete disorder by anatomical region	disorder by anatomical region	obsolete disorder by anatomical region
MONDO:0032600	Snijders Blok-Campeau syndrome	snijders blok-campeau syndrome	Snijders Blok-Campeau syndrome
MONDO:0044969	obsolete disease of membrane bound organelle	disease of membrane bound organelle	obsolete disease of membrane bound organelle
MONDO:0044971	obsolete disease of macromolecular complex	disease of macromolecular complex	obsolete disease of macromolecular complex
MONDO:0044974	obsolete disease of supramolecular complex	disease of supramolecular complex	obsolete disease of supramolecular complex
MONDO:0044975	obsolete disease of transporter activity	disease of transporter activity	obsolete disease of transporter activity
MONDO:0044976	obsolete disease of catalytic activity	disease of catalytic activity	obsolete disease of catalytic activity
MONDO:0044977	obsolete disease of receptor activity	disease of receptor activity	obsolete disease of receptor activity
MONDO:0044979	obsolete disease by cell type	disease by cell type	obsolete disease by cell type
MONDO:0044980	obsolete disease of signal transduction	disease of signal transduction	obsolete disease of signal transduction
MONDO:0045031	obsolete infectious diarrheal disease	infectious diarrheal disease	obsolete infectious diarrheal disease
MONDO:0100007	obsolete chronic inflammatory demyelinating polyneuropathy	chronic inflammatory demyelinating polyneuropathy	obsolete chronic inflammatory demyelinating polyneuropathy

Changed definition

Mondo ID	Label	Previous release	New release
MONDO:0001029	Klippel-Feil syndrome	Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.	A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
MONDO:0003015	obsolete malignant biphasic mesothelioma	A malignant form of malignant biphasic mesothelioma.
MONDO:0004027	obsolete embryonal cancer	A germ cell cancer that is associated with an embryo.
MONDO:0005329	obsolete vascular sarcoma	A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.
MONDO:0005547	obsolete desmoplastic medulloblastoma	A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
MONDO:0005652	Arterivirus infectious disease	Infections caused by viruses of the genus arterivirus.	Infections caused by viruses of the family arteriviridae.
MONDO:0017767	rheumatic fever	Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.	A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.
MONDO:0006703	obsolete chronic interstitial cystitis	Chronic form of interstitial cystitis.
MONDO:0006819	obsolete kernicterus	A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.
MONDO:0007039	neurofibromatosis type 2	Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
MONDO:0007064	adenosine deaminase deficiency	Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.	A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
MONDO:0016241	alternating hemiplegia of childhood	Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.	A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
MONDO:0007140	obsolete antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
MONDO:0007191	Behcet disease	Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.	A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
MONDO:0007356	Lynch syndrome 1	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.
MONDO:0007640	Sorsby fundus dystrophy	Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.	A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
MONDO:0007889	obsolete lentigines	Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).
MONDO:0008061	nail-patella syndrome	Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
MONDO:0008073	familial juvenile hyperuricemic nephropathy type 1	Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.	A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
MONDO:0019341	tuberous sclerosis complex	Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.	A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.
MONDO:0008656	obsolete benign paroxysmal positional nystagmus	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
MONDO:0008674	obsolete WHIM syndrome	WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
MONDO:0015129	chronic primary adrenal insufficiency	Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.	A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
MONDO:0008884	oculoosteocutaneous syndrome	Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
MONDO:0008891	riboflavin transporter deficiency	Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.	A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
MONDO:0008929	obsolete cataract-intellectual disability-hypogonadism syndrome	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
MONDO:0009466	obsolete neuronal intestinal pseudoobstruction	A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
MONDO:0009685	Miyoshi myopathy	Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
MONDO:0009717	Schwartz-Jampel syndrome	Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.	A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
MONDO:0010107	obsolete testicular regression syndrome	Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
MONDO:0010209	xanthinuria type I	Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
MONDO:0010535	Bazex-Dupre-Christol syndrome	Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.	Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.
MONDO:0010598	glycogen storage disease IXa1	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene.	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
MONDO:0011086	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.	A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
MONDO:0011108	Stüve-Wiedemann syndrome	Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.	A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
MONDO:0011338	Omenn syndrome	Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).	An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
MONDO:0011379	obsolete medullary cystic kidney disease 2	An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.
MONDO:0011838	Bothnia retinal dystrophy	Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.
MONDO:0011910	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.
MONDO:0011988	neutrophil immunodeficiency syndrome	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
MONDO:0012249	colorectal cancer, hereditary nonpolyposis, type 2	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.
MONDO:0012359	combined immunodeficiency due to partial RAG1 deficiency	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
MONDO:0012455	Kleefstra syndrome	Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.	A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
MONDO:0012652	autosomal recessive limb-girdle muscular dystrophy type 2L	Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
MONDO:0012699	autosomal recessive limb-girdle muscular dystrophy type 2M	Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
MONDO:0013056	developmental and epileptic encephalopathy, 39	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
MONDO:0013389	developmental and epileptic encephalopathy, 12	Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.	An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
MONDO:0014972	chromosome 19q13.11 deletion syndrome, proximal		Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.
MONDO:0016212	obsolete cyclosporosis	Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.
MONDO:0016645	obsolete rare neoplastic disease	Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature.
MONDO:0016711	desmoplastic/nodular medulloblastoma	Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
MONDO:0017648	Sydenham chorea		A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.
MONDO:0018092	Vogt-Koyanagi-Harada disease	Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.
MONDO:0018304	Schnitzler syndrome	Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.	A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
MONDO:0018540	PFAPA syndrome	PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.	An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
MONDO:0019744	obsolete rare renal tubular disease	Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction.
MONDO:0100007	obsolete chronic inflammatory demyelinating polyneuropathy	A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.

Obsoletion candidates

New obsoletion candidates:

Mondo ID	Label
MONDO:0015572	cerebral malformation due to abnormal neuronal migration
MONDO:0015945	polymalformative genetic syndrome with increased risk of developing cancer
MONDO:0015656	metabolic disease with epilepsy
MONDO:0015919	syndromic neurometabolic disease with non-X-linked intellectual disability
MONDO:0018132	congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
MONDO:0018284	congenital disorder of glycosylation with neurological involvement
MONDO:0018296	congenital disorder of glycosylation with developmental anomaly
MONDO:0020259	myopathy with eye involvement
MONDO:0017272	autosomal ichthyosis syndrome with prominent neurologics signs
MONDO:0017273	autosomal ichthyosis syndrome with fatal disease course
MONDO:0015336	malformation syndrome with odontal and/or periodontal component
MONDO:0016401	energy metabolism disorder with epilepsy
MONDO:0018157	mitochondrial disorder due to a defect in mitochondrial protein synthesis
MONDO:0019706	lysosomal storage disease with skeletal involvement
MONDO:0020279	metabolic disease with corneal opacity
MONDO:0017646	neurodegenerative disease with chorea
MONDO:0017028	secondary interstitial lung disease specific to adulthood associated with a systemic disease
MONDO:0017635	parkinsonian syndrome due to neurodegenerative disease
MONDO:0015218	syndromic developmental defect of the eye
MONDO:0020253	syndrome with a symptomatic strabismus
MONDO:0018271	peripheral primitive neuroectodermal tumor
MONDO:0015136	immunodeficiency due to a genetic complement cascade protein anomaly
MONDO:0004058	pancreatic cholera
MONDO:0018407	male infertility due to obstructive azoospermia of genetic origin
MONDO:0017390	methylmalonic acidemia without homocystinuria
MONDO:0015188	metabolic disease with intestinal involvement
MONDO:0017841	autoimmune disease with skin involvement
MONDO:0016104	infectious disease with peripheral neuropathy
MONDO:0020091	male infertility due to obstructive azoospermia
MONDO:0016180	hematological disease associated with an acquired peripheral neuropathy
MONDO:0020142	metabolic disease with dementia
MONDO:0015659	infectious disease with epilepsy
MONDO:0015928	secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
MONDO:0016177	systemic inflammatory disease associated with an acquired peripheral neuropathy
MONDO:0015220	syndrome with a central nervous system malformation as major feature
MONDO:0018627	ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
MONDO:0020090	male infertility due to gonadal dysgenesis
MONDO:0017641	miscellaneous movement disorder due to neurodegenerative disease
MONDO:0015495	otomandibular dysplasia associated with monogenic syndromes
MONDO:0017432	syndrome with limb reduction defects
MONDO:0016436	acquired dermis elastic tissue disorder with increased elastic tissue
MONDO:0017434	syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
MONDO:0020276	pigmentation disorder with eye involvement, excluding albinism
MONDO:0020232	musculoskeletal disease with cataract
MONDO:0007089	Alzheimer disease 2
MONDO:0015658	cerebral diseases of vascular origin with epilepsy
MONDO:0020063	malformation syndrome with hamartosis
MONDO:0019066	syndrome with brachydactyly
MONDO:0019715	syndrome with synostosis or other joint formation defect
MONDO:0015657	inflammatory and autoimmune disease with epilepsy
MONDO:0017370	autoinflammatory syndrome with skin involvement
MONDO:0017311	rare disease with thoracic aortic aneurysm and aortic dissection
MONDO:0015331	malformation syndrome with skin/mucosae involvement
MONDO:0020042	syndrome with 46,XY disorder of sex development
MONDO:0017369	autoinflammatory syndrome with immune deficiency
MONDO:0018727	immunodeficiency due to a complement regulatory deficiency
MONDO:0017121	syndrome with a Dandy-Walker malformation as major feature
MONDO:0017662	miscellaneous movement disorder due to genetic neurodegenerative disease
MONDO:0020226	chromosomal anomaly with cataract
MONDO:0017038	secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
MONDO:0015329	malformation syndrome with short stature
MONDO:0018293	congenital disorder of glycosylation with skin involvement
MONDO:0015895	syndrome with hypoparathyroidism
MONDO:0019827	disease associated with non-acquired combined pituitary hormone deficiency
MONDO:0019305	immune deficiency with skin involvement
MONDO:0007821	immunoglobulin switch sequences
MONDO:0016235	complex vascular malformation with associated anomalies
MONDO:0017119	syndrome with microcephaly as major feature
MONDO:0017017	primary interstitial lung disease specific to childhood due to alveolar vascular disorder
MONDO:0017965	syndrome with 46,XX disorder of sex development
MONDO:0017021	secondary interstitial lung disease specific to childhood associated with a connective tissue disease
MONDO:0020274	onycho-patellar syndrome with eye involvement
MONDO:0016799	mitochondrial oxidative phosphorylation disorder with no known mechanism
MONDO:0019301	metabolic disease with skin involvement
MONDO:0018790	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
MONDO:0018398	female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0015651	neurocutaneous syndrome with epilepsy
MONDO:0018549	late-onset scapuloperoneal muscular dystrophy with hyaline bodies
MONDO:0015710	immune dysregulation disease with immunodeficiency
MONDO:0020182	palpebral tumor with a vascular malformation
MONDO:0017023	secondary interstitial lung disease specific to childhood associated with a granulomatous disease
MONDO:0019859	congenital thyroid malformation without hypothyroidism
MONDO:0020103	constitutional hemolytic anemia due to acanthocytosis
MONDO:0020281	metabolic disease with pigmentary retinitis
MONDO:0019595	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
MONDO:0016402	mitochondrial disease with epilepsy
MONDO:0016403	mitochondrial disease with peripheral neuropathy
MONDO:0020098	constitutional anemia due to iron metabolism disorder
MONDO:0017118	syndrome with a cerebellar malformation as major feature
MONDO:0016397	lysosomal disease with epilepsy
MONDO:0020045	autosomal recessive cerebellar ataxia due to a DNA repair defect
MONDO:0018288	congenital disorder of glycosylation with hepatic involvement
MONDO:0016328	fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
MONDO:0016336	fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
MONDO:0016327	mitochondrial disease with hypertrophic cardiomyopathy
MONDO:0018120	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
MONDO:0020231	cardiac disease with cataract
MONDO:0020233	dentocutaneous disease with cataract
MONDO:0015581	bile acid synthesis defect with cholestasis and malabsorption
MONDO:0016405	sterol metabolism disorder with epilepsy
MONDO:0020280	metabolic disease with cataract
MONDO:0018042	immunodeficiency syndrome with abnormal pigmentation
MONDO:0018036	immunodeficiency due to absence of thymus
MONDO:0020106	hemolytic anemia due to a disorder of glycolytic enzymes
MONDO:0015181	congenital intestinal disease due to an enzymatic defect
MONDO:0016628	hemorrhagic disorder due to a coagulation factors defect
MONDO:0018035	syndrome with combined immunodeficiency
MONDO:0020111	constitutional megaloblastic anemia due to folate metabolism disorder
MONDO:0016326	lysosomal disease with hypertrophic cardiomyopathy
MONDO:0020105	hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
MONDO:0016341	lysosomal disease with restrictive cardiomyopathy
MONDO:0017037	secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
MONDO:0017024	secondary interstitial lung disease specific to childhood associated with a metabolic disease
MONDO:0009278	hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
MONDO:0016325	glycogen storage disease with hypertrophic cardiomyopathy
MONDO:0018402	female infertility due to gonadal dysgenesis
MONDO:0017035	secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
MONDO:0018118	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
MONDO:0016399	amino acid or protein metabolism disease with epilepsy
MONDO:0015709	immunodeficiency syndrome with autoimmunity
MONDO:0017693	glycogen storage disease due to glycogen synthase deficiency
MONDO:0015877	malformative syndrome with dentinogenesis imperfecta
MONDO:0017717	metabolic disease due to other fatty acid oxidation disorder
MONDO:0020228	cataract associated with a metabolic disease
MONDO:0016136	cerebellar ataxia with peripheral neuropathy
MONDO:0020229	cerebral disease with cataract
MONDO:0016334	neuromuscular disease with dilated cardiomyopathy
MONDO:0017718	mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
MONDO:0016578	mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
MONDO:0020265	mitochondrial disease with eye involvement
MONDO:0017271	autosomal ichthyosis syndrome with prominent hair abnormalities
MONDO:0020267	genetic keratinization disorder associated with ocular features
MONDO:0020282	metabolic disease with macular cherry-red spot
MONDO:0018104	Torg-Winchester syndrome
MONDO:0020109	constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
MONDO:0018251	glycogen storage disease due to phosphorylase kinase deficiency
MONDO:0019596	46,XY disorder of sex development due to testicular steroidogenesis defect
MONDO:0016398	peroxisomal disease with epilepsy
MONDO:0020041	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
MONDO:0015052	primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
MONDO:0020107	hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
MONDO:0017016	primary interstitial lung disease specific to childhood due to alveolar structure disorder
MONDO:0015655	cerebral malformation with epilepsy
MONDO:0017971	46,XY disorder of sex development due to a cholesterol synthesis defect
MONDO:0019856	primary congenital hypothyroidism without thyroid developmental anomaly
MONDO:0016400	metal transport or utilization disorder with epilepsy
MONDO:0018558	syndrome with woolly hair
MONDO:0015920	syndromic neurometabolic disease with X-linked intellectual disability
MONDO:0010330	primary ciliary dyskinesia-retinitis pigmentosa syndrome
MONDO:0016335	mitochondrial disease with dilated cardiomyopathy
MONDO:0020230	renal disease with cataract
MONDO:0016492	beta-thalassemia with other manifestations
MONDO:0016793	mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
MONDO:0016792	mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
MONDO:0016795	mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
MONDO:0015825	obesity due to congenital leptin resistance
MONDO:0020217	secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
MONDO:0019717	chromosomal disease with overgrowth
MONDO:0018291	congenital disorder of glycosylation with intestinal involvement
MONDO:0019747	hematological disorder with renal involvement
MONDO:0018718	vascular tumor with associated anomalies
MONDO:0017333	hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
MONDO:0018289	congenital disorder of glycosylation with dilated cardiomyopathy
MONDO:0018162	neurometabolic disorder due to serine deficiency
MONDO:0018395	male infertility due to sperm motility disorder
MONDO:0017898	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0020101	constitutional hemolytic anemia due to membrane defect
MONDO:0020078	acute myeloid leukemia with recurrent genetic anomaly
MONDO:0018119	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
MONDO:0015922	channelopathy with epilepsy
MONDO:0015789	non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
MONDO:0018618	46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
MONDO:0017956	mixed autoinflammatory and autoimmune syndrome
MONDO:0017897	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
MONDO:0017899	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0018444	female infertility due to fertilization defect
MONDO:0017020	secondary interstitial lung disease specific to childhood associated with a systemic disease
MONDO:0017643	frontotemporal neurodegeneration with movement disorder
MONDO:0015081	neuroendocrine tumor with other location
MONDO:0020266	genodermatosis with ocular features
MONDO:0020138	ataxia with dementia
MONDO:0018391	male infertility with spermatogenesis disorder
MONDO:0015654	idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
MONDO:0015711	specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
MONDO:0018403	female infertility due to an implantation defect
MONDO:0017033	primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
MONDO:0017952	non-familial rare disease with dilated cardiomyopathy
MONDO:0016137	acute and subacute inflammatory demyelinating polyneuropathy
MONDO:0016178	peripheral neuropathy associated with monoclonal gammopathy
MONDO:0016181	solid tumor associated with an acquired peripheral neuropathy
MONDO:0017032	primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
MONDO:0020273	disease with potential neoplastic degeneration associated with ocular features
MONDO:0016435	acquired dermis elastic tissue disorder with decreased elastic tissue
MONDO:0016488	beta-thalassemia associated with another hemoglobin anomaly
MONDO:0016704	glial tumor of neuroepithelial tissue with unknown origin
MONDO:0016791	mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
MONDO:0017022	secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
MONDO:0017150	pulmonary arterial hypertension associated with another disease
MONDO:0017151	pulmonary arterial hypertension associated with connective tissue disease
MONDO:0017152	pulmonary arterial hypertension associated with congenital heart disease
MONDO:0017153	pulmonary arterial hypertension associated with HIV infection
MONDO:0017154	pulmonary arterial hypertension associated with portal hypertension
MONDO:0017155	pulmonary arterial hypertension associated with schistosomiasis
MONDO:0017156	pulmonary arterial hypertension associated with chronic hemolytic anemia
MONDO:0017158	pulmonary hypertension with unclear multifactorial mechanism
MONDO:0020137	frontotemporal degeneration with dementia
MONDO:0017163	hemolytic disease due to fetomaternal alloimmunization
MONDO:0017274	obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0017647	postinfectious autoimmune disease with chorea
MONDO:0018414	female infertility due to an implantation defect of genetic origin
MONDO:0017970	46,XY disorder of sex development due to impaired androgen production
MONDO:0019594	46,XY disorder of sex development due to a testosterone synthesis defect
MONDO:0018390	male infertility due to sperm disorder
MONDO:0018389	male infertility due to gonadal dysgenesis or sperm disorder
MONDO:0018392	male infertility with spermatogenesis disorder due to single gene mutation
MONDO:0018789	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
MONDO:0019853	congenital hypothyroidism due to developmental anomaly
MONDO:0020278	metabolic disease associated with ocular features
MONDO:0020270	pigmentation disorder with eye involvement
MONDO:0022200	treatment for disease
MONDO:0022201	has treatment by surgery
MONDO:0024348	pityriasis capitis
MONDO:0026782	chondrodysplasia punctata 2, X-linked dominant
MONDO:0027750	serpinopathy with toxic serpin polymerization
MONDO:0027751	serpinopathy with loss of serpin function
MONDO:0033967	immune dysregulation with inflammatory bowel disease
MONDO:0100106	neonatal epileptic encephalopathy

Terms that were previously candidate for obsoletion and are now not anymore:

No changes.

Obsoletions

Mondo ID	Label
MONDO:0000839	obsolete congenital abnormality
MONDO:0002176	obsolete connective tissue cancer
MONDO:0021199	obsolete disease by anatomical system
MONDO:0005547	obsolete desmoplastic medulloblastoma
MONDO:0005569	obsolete cartilage disease
MONDO:0006674	obsolete benign fibrous mesothelioma
MONDO:0006819	obsolete kernicterus
MONDO:0007140	obsolete antiphospholipid syndrome
MONDO:0017259	obsolete systemic diseases with anterior uveitis
MONDO:0017260	obsolete systemic diseases with posterior uveitis
MONDO:0017261	obsolete systemic diseases with panuveitis
MONDO:0007292	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm
MONDO:0019686	obsolete type 2 collagen-related bone disorder
MONDO:0007889	obsolete lentigines
MONDO:0008656	obsolete benign paroxysmal positional nystagmus
MONDO:0008674	obsolete WHIM syndrome
MONDO:0008929	obsolete cataract-intellectual disability-hypogonadism syndrome
MONDO:0009466	obsolete neuronal intestinal pseudoobstruction
MONDO:0010107	obsolete testicular regression syndrome
MONDO:0011278	obsolete bile duct cysts
MONDO:0011379	obsolete medullary cystic kidney disease 2
MONDO:0011947	obsolete HNP1
MONDO:0012356	obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria
MONDO:0012461	obsolete bulimia nervosa, susceptibility to, 2
MONDO:0014424	obsolete congenital deficiency in alpha-fetoprotein
MONDO:0014425	obsolete hereditary persistence of alpha-fetoprotein
MONDO:0014554	obsolete infantile multisystem neurologic-endocrine-pancreatic disease
MONDO:0014897	obsolete portal hypertension, noncirrhotic
MONDO:0017368	obsolete systemic disease with skin involvement
MONDO:0015939	obsolete systemic autoimmune disease
MONDO:0016212	obsolete cyclosporosis
MONDO:0016788	obsolete genetic hyperferritinemia without iron overload
MONDO:0018651	obsolete lipoyl transferase 2 deficiency
MONDO:0018652	obsolete biological anomaly without phenotypic characterization
MONDO:0020227	obsolete systemic disease with cataract
MONDO:0021194	obsolete disease by subcellular system affected
MONDO:0021195	obsolete disease by cellular process disrupted
MONDO:0021196	obsolete disease by molecular activity disrupted
MONDO:0021197	obsolete disease by cellular component affected
MONDO:0022546	obsolete basal cell nevus anodontia abnormal bone mineralization
MONDO:0022605	obsolete brachymetapody anodontia hypotrichosis albinoidism
MONDO:0023031	obsolete dysostosis acral with facial and genital abnormalities
MONDO:0024505	obsolete disorder by anatomical region
MONDO:0044969	obsolete disease of membrane bound organelle
MONDO:0044971	obsolete disease of macromolecular complex
MONDO:0044974	obsolete disease of supramolecular complex
MONDO:0044975	obsolete disease of transporter activity
MONDO:0044976	obsolete disease of catalytic activity
MONDO:0044977	obsolete disease of receptor activity
MONDO:0044979	obsolete disease by cell type
MONDO:0044980	obsolete disease of signal transduction
MONDO:0045031	obsolete infectious diarrheal disease
MONDO:0100007	obsolete chronic inflammatory demyelinating polyneuropathy