v2023-04-04

Overview:

• Number of new terms: 278
• Number of changed labels: 31
• Number of changed definitions: 30
• Number obsoleted terms: 22
• Number of new obsoletion candidates: 14
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100217	developmental delay with short stature, dysmorphic facial features, and sparse hair 2	Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.
MONDO:0100256	CTNNA1-related diffuse gastric and lobular breast cancer syndrome	Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.
MONDO:0100287	POLE-related polyposis and colorectal cancer syndrome	An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
MONDO:0100292	Carey-Fineman-Ziter syndrome 2	Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.
MONDO:0100293	diaphragmatic malformation
MONDO:0100298	abdominal wall malformation
MONDO:0100299	PAX5-related B lymphopenia and autism spectrum disorder	PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.
MONDO:0100300	hereditary capillary infantile hemangioma	An instance of capillary infantine hemangioma that is caused by an inherited genomic modification in an individual.
MONDO:0100301	hemangioma, capillary infantile, susceptibility to	An inherited susceptibility or predisposition to developing capillary infantile hemangioma.
MONDO:0100302	LADD syndrome 1	Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.
MONDO:0100303	ichthyosis, annular epidermolytic 1	Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.
MONDO:0100517	PSAP-related sphingolipidosis	A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.
MONDO:0100518	hereditary attention deficit-hyperactivity disorder	An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual.
MONDO:0700220	disease related to transplantation	Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.
MONDO:0700221	disease related to solid organ transplantation	Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.
MONDO:0700222	disease related to hematopoietic stem cell transplant	Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.
MONDO:0700223	hereditary skeletal muscle disorder	An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.
MONDO:0700225	hereditary gallbladder disorder	An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual.
MONDO:0700226	food allergy	Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.
MONDO:0850092	post-cardiac arrest syndrome
MONDO:0850093	absence epilepsy
MONDO:0850101	spitzoid melanoma
MONDO:0850110	melanoma in congenital melanocytic nevus
MONDO:0850112	breast implant-associated anaplastic large cell lymphoma
MONDO:0850125	malignant adenoma	A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
MONDO:0850128	epididymis disease	A male reproductive system disease that is located in the epididymis.
MONDO:0850129	gastroesophageal cancer	A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.
MONDO:0850130	gastroesophageal adenocarcinoma
MONDO:0850149	nephroma	A kidney benign neoplasm that is located in the kidney cortex.
MONDO:0850151	lymph node carcinoma	A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.
MONDO:0850152	auditory system benign neoplasm	A sensory system benign neoplasm that is located in the auditory system.
MONDO:0850154	tongue carcinoma
MONDO:0850156	B-lymphoblastic leukemia/lymphoma MLL rearranged	A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
MONDO:0850157	B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1	A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
MONDO:0850160	B-lymphoblastic leukemia/lymphoma with IL3-IGH	A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
MONDO:0850161	B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like	A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.
MONDO:0850162	B-lymphoblastic leukemia/lymphoma with IAMP21	A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
MONDO:0850199	NK cell deficiency	A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.
MONDO:0850200	T cell and NK cell immunodeficiency	A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.
MONDO:0850201	hereditary alpha tryptasemia syndrome
MONDO:0850223	Libman-Sacks endocarditis	An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
MONDO:0850273	salivary gland mucinous adenocarcinoma	A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
MONDO:0850281	mammary analogue secretory carcinoma	A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
MONDO:0850292	subjective cognitive decline	A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.
MONDO:0850295	acquired laryngomalacia	A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.
MONDO:0850338	spinal ependymoma, MYCN-amplified	A spinal cord ependymoma that is characterized by MYCN amplification.
MONDO:0850345	lung pleomorphic carcinoma	A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.
MONDO:0850347	bladder sarcomatoid transitional cell carcinoma	A sarcomatoid transitional cell carcinoma that is located in the bladder.
MONDO:0850348	bladder small cell carcinoma	A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.
MONDO:0850371	nonobstructive coronary artery disease	A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.
MONDO:0850388	childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered	A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
MONDO:0850426	high-grade B-cell lymphoma double-hit/triple-hit	A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
MONDO:0850445	benign peritoneal solitary fibrous tumor	A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
MONDO:0850459	primary cutaneous gamma-delta t-cell lymphoma	A primary cutaneous T-cell non-Hodgkin lymphoma that is characterised by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
MONDO:0850461	neurobehavioral disorder with prenatal alcohol exposure	A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.
MONDO:0850514	inclusion body myopathy and brain white matter abnormalities
MONDO:0850519	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia	An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
MONDO:0850812	dendritic cell deficiency	A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.
MONDO:0851095	KINSSHIP syndrome	A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.
MONDO:0851100	malignant olfactory nerve neoplasm
MONDO:0851103	Bartholin's gland disease	A female reproductive system disease that is located in Bartholin's gland.
MONDO:0851105	cerebrovascular benign neoplasm
MONDO:0859046	rhabdomyosarcoma, embryonal, 2
MONDO:0859080	intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
MONDO:0859081	chromosome Xq13 duplication syndrome
MONDO:0859083	systemic lupus erythematosus 17
MONDO:0859085	neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
MONDO:0859086	intellectual developmental disorder, X-linked 110
MONDO:0859136	Alzahrani-Kuwahara syndrome
MONDO:0859137	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
MONDO:0859139	blepharophimosis-impaired intellectual development syndrome
MONDO:0859141	neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
MONDO:0859142	Hiatt-Neu-Cooper neurodevelopmental syndrome
MONDO:0859143	Radio-Tartaglia syndrome
MONDO:0859144	Buratti-Harel syndrome
MONDO:0859146	growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MONDO:0859147	Marbach-Rustad progeroid syndrome
MONDO:0859148	neurodevelopmental disorder with seizures and gingival overgrowth
MONDO:0859150	BDV syndrome
MONDO:0859152	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
MONDO:0859154	Bartsocas-Papas syndrome 2
MONDO:0859155	chromosome 1p36 deletion syndrome, proximal
MONDO:0859157	visceral myopathy 2
MONDO:0859158	ataxia, intention tremor, and hypotonia syndrome, childhood-onset
MONDO:0859159	deafness, cataract, impaired intellectual development, and polyneuropathy
MONDO:0859160	Mitochondrial complex IV deficiency, nuclear type 22
MONDO:0859161	onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
MONDO:0859162	neurodevelopmental disorder with infantile epileptic spasms
MONDO:0859163	Faundes-Banka syndrome
MONDO:0859164	osteootohepatoenteric syndrome
MONDO:0859165	neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
MONDO:0859168	myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MONDO:0859169	White-Kernohan syndrome
MONDO:0859171	Luo-Schoch-Yamamoto syndrome
MONDO:0859173	sick sinus syndrome 4
MONDO:0859174	Usmani-Riazuddin syndrome, autosomal dominant
MONDO:0859175	nephronophthisis-like nephropathy 2
MONDO:0859176	neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
MONDO:0859177	VISS syndrome
MONDO:0859178	developmental delay, impaired speech, and behavioral abnormalities
MONDO:0859179	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
MONDO:0859180	bile acid malabsorption, primary, 2
MONDO:0859181	DEGCAGS syndrome
MONDO:0859182	Short stature, Dauber-Argente type
MONDO:0859183	Parkinson disease 24, autosomal dominant, susceptibility to
MONDO:0859185	neurodevelopmental disorder with hypotonia and dysmorphic facies
MONDO:0859186	Chopra-Amiel-Gordon syndrome
MONDO:0859187	neurodevelopmental disorder with hypotonia and brain abnormalities
MONDO:0859188	neurodevelopmental disorder with seizures and brain abnormalities
MONDO:0859189	muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
MONDO:0859190	neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MONDO:0859191	biliary, renal, neurologic, and skeletal syndrome
MONDO:0859193	neuroocular syndrome
MONDO:0859194	Boudin-Mortier syndrome
MONDO:0859196	Usmani-Riazuddin syndrome, autosomal recessive
MONDO:0859197	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
MONDO:0859198	short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
MONDO:0859199	developmental delay with or without intellectual impairment or behavioral abnormalities
MONDO:0859200	cerebellar ataxia, brain abnormalities, and cardiac conduction defects
MONDO:0859201	neurodevelopmental disorder with impaired language and ataxia and with or without seizures
MONDO:0859202	developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
MONDO:0859204	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
MONDO:0859206	neurodevelopmental disorder with hearing loss and spasticity
MONDO:0859207	neurodevelopmental disorder with hypotonia and gross motor and speech delay
MONDO:0859208	Hengel-Maroofian-Schols syndrome
MONDO:0859209	Zaki syndrome
MONDO:0859210	chromosome 16q12 duplication syndrome
MONDO:0859211	neurodevelopmental disorder with hyperkinetic movements and dyskinesia
MONDO:0859212	neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
MONDO:0859214	Marbach-Schaaf neurodevelopmental syndrome
MONDO:0859215	dystonia, early-onset, and/or spastic paraplegia
MONDO:0859216	neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
MONDO:0859217	Brunet-Wagner neurodevelopmental syndrome
MONDO:0859218	developmental delay with variable neurologic and brain abnormalities
MONDO:0859219	Rauch-Steindl syndrome
MONDO:0859220	Ferguson-Bonni neurodevelopmental syndrome
MONDO:0859221	Yoon-Bellen neurodevelopmental syndrome
MONDO:0859223	congenital disorder of glycosylation, type Iw, autosomal dominant
MONDO:0859224	intellectual disability and myopathy syndrome
MONDO:0859225	neurodevelopmental disorder with or without variable movement or behavioral abnormalities
MONDO:0859228	combined oxidative phosphorylation deficiency 55
MONDO:0859229	cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
MONDO:0859230	Kury-Isidor syndrome
MONDO:0859232	neurodevelopmental disorder with central hypotonia and dysmorphic facies
MONDO:0859234	agammaglobulinemia 8b, autosomal recessive
MONDO:0859235	auditory neuropathy, autosomal dominant 3
MONDO:0859236	neurodevelopmental disorder with neuromuscular and skeletal abnormalities
MONDO:0859237	3-methylglutaconic aciduria, type VIIA
MONDO:0859239	Chilton-Okur-Chung neurodevelopmental syndrome
MONDO:0859240	intellectual developmental disorder with or without peripheral neuropathy
MONDO:0859241	neurodegeneration, childhood-onset, with progressive microcephaly
MONDO:0859242	leukodystrophy, hypomyelinating, 24
MONDO:0859243	neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
MONDO:0859244	phosphoribosylaminoimidazole carboxylase deficiency
MONDO:0859245	spinocerebellar ataxia, autosomal recessive 32
MONDO:0859247	neurocardiofaciodigital syndrome
MONDO:0859249	parenti-mignot neurodevelopmental syndrome
MONDO:0859250	neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
MONDO:0859251	Dentici-Novelli neurodevelopmental syndrome
MONDO:0859252	neurodevelopmental disorder with poor growth and skeletal anomalies
MONDO:0859253	osteoporosis, childhood- or juvenile-onset, with developmental delay
MONDO:0859255	peripheral motor neuropathy, childhood-onset, biotin-responsive
MONDO:0859256	neurodevelopmental disorder with language delay and seizures
MONDO:0859257	intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
MONDO:0859258	neurodevelopmental disorder with dystonia and seizures
MONDO:0859260	Dworschak-Punetha neurodevelopmental syndrome
MONDO:0859261	attention deficit-hyperactivity disorder 8
MONDO:0859262	ACCES syndrome
MONDO:0859263	developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
MONDO:0859265	neurodevelopmental disorder with epilepsy and brain atrophy
MONDO:0859266	neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
MONDO:0859267	tumor predisposition syndrome 2
MONDO:0859272	neurodevelopmental disorder with speech delay and variable ocular anomalies
MONDO:0859274	neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
MONDO:0859275	neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
MONDO:0859276	primordial dwarfism-immunodeficiency-lipodystrophy syndrome
MONDO:0859277	intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
MONDO:0859278	keratoderma-ichthyosis-deafness syndrome, autosomal recessive
MONDO:0859279	spinal muscular atrophy, distal, autosomal recessive, 6
MONDO:0859280	developmental delay, hypotonia, and impaired language
MONDO:0859282	neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
MONDO:0859283	neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
MONDO:0859285	neurodevelopmental disorder with microcephaly, short stature, and speech delay
MONDO:0859286	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
MONDO:0859287	neurodevelopmental disorder with microcephaly, hypotonia, and absent language
MONDO:0859288	bone marrow failure and diabetes mellitus syndrome
MONDO:0859292	developmental delay, behavioral abnormalities, and neuropsychiatric disorders
MONDO:0859293	neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
MONDO:0859295	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
MONDO:0859296	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
MONDO:0859297	neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
MONDO:0859298	neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
MONDO:0859300	Neuronopathy, distal hereditary motor, type X
MONDO:0859301	neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
MONDO:0859303	intellectual developmental disorder with ocular anomalies and distinctive facial features
MONDO:0859304	neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
MONDO:0859305	neurodevelopmental disorder with eye movement abnormalities and ataxia
MONDO:0859306	developmental delay with variable intellectual disability and dysmorphic facies
MONDO:0859308	retinitis pigmentosa 95
MONDO:0859309	spastic paraplegia 88, autosomal dominant
MONDO:0859310	orofaciodigital syndrome 19
MONDO:0859311	Charcot-Marie-Tooth disease, demyelinating, type 1J
MONDO:0859312	neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
MONDO:0859313	neurodevelopmental disorder with speech impairment and with or without seizures
MONDO:0859314	developmental and epileptic encephalopathy 108
MONDO:0859316	iron overload, susceptibility to
MONDO:0859317	Pseudohypoaldosteronism, type IB2, autosomal recessive
MONDO:0859318	Pseudohypoaldosteronism, type IB3, autosomal recessive
MONDO:0859319	dyskeratosis congenita, autosomal recessive 8
MONDO:0859320	mitochondrial complex I deficiency, nuclear type 39
MONDO:0859321	mitochondrial complex 3 deficiency, nuclear type 11
MONDO:0859323	combined oxidative phosphorylation deficiency 56
MONDO:0859324	developmental delay, language impairment, and ocular abnormalities
MONDO:0859325	developmental and epileptic encephalopathy 109
MONDO:0859327	developmental and epileptic encephalopathy 110
MONDO:0859328	hypomagnesemia 7, renal, with or without dilated cardiomyopathy
MONDO:0859329	mosaic variegated aneuploidy syndrome 4
MONDO:0859330	oocyte maturation defect 13
MONDO:0859331	Rabin-Pappas syndrome
MONDO:0859332	cortical dysplasia, complex, with other brain malformations 11
MONDO:0859333	intellectual developmental disorder, autosomal dominant 70
MONDO:0859334	spinocerebellar ataxia 50
MONDO:0859337	combined oxidative phosphorylation deficiency 57
MONDO:0859338	spermatogenic failure 78
MONDO:0859339	tooth agenesis, selective, 10
MONDO:0859340	spinocerebellar ataxia 27B, late-onset
MONDO:0859341	hypotrichosis 15
MONDO:0859342	microcephaly 30, primary, autosomal recessive
MONDO:0859345	branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
MONDO:0859346	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
MONDO:0859347	neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
MONDO:0859350	neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
MONDO:0859351	obesity and hypopigmentation
MONDO:0859352	spermatogenic failure 79
MONDO:0859353	ciliary dyskinesia, primary, 49, without situs inversus
MONDO:0859354	thyroid hormone metabolism, abnormal, 3
MONDO:0859356	congenital disorder of glycosylation, type IIy
MONDO:0859357	congenital disorder of glycosylation, type IIz
MONDO:0859358	cardiomyopathy, dilated, 2H
MONDO:0859360	spinocerebellar ataxia, autosomal recessive 33
MONDO:0859361	neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
MONDO:0859362	hyperinsulinemic hypoglycemia, familial, 8
MONDO:0859363	spastic paraplegia 79A, autosomal dominant, with ataxia
MONDO:0859364	spermatogenic failure 80
MONDO:0859365	neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
MONDO:0859366	hearing loss, autosomal dominant 85
MONDO:0859367	retinitis pigmentosa 96
MONDO:0859368	short QT syndrome 7
MONDO:0859369	joint contractures, osteochondromas, and B-cell lymphoma
MONDO:0859371	rhabdomyolysis, susceptibility to, 1
MONDO:0859372	cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
MONDO:0859373	intellectual developmental disorder, autosomal recessive 78
MONDO:0859374	hearing loss, autosomal recessive 120
MONDO:0859375	developmental delay with hypotonia, myopathy, and brain abnormalities
MONDO:0859376	hydrocephalus, congenital, 5, susceptibility to
MONDO:0859377	neurodevelopmental disorder with poor growth and behavioral abnormalities
MONDO:0859378	leukodystrophy, hypomyelinating, 25
MONDO:0859379	lymphatic malformation 13
MONDO:0859380	episodic kinesigenic dyskinesia 3
MONDO:0859381	cardiomyopathy, dilated, 100
MONDO:0859382	cataract 50 with or without glaucoma
MONDO:0859383	ichthyosis hystrix
MONDO:0859390	epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
MONDO:0859393	Atelis syndrome
MONDO:0859477	spermatogenic failure, X-linked, 5
MONDO:0859478	spermatogenic failure, X-linked, 6
MONDO:0859516	neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
MONDO:0859519	neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
MONDO:0859520	Mitochondrial complex IV deficiency, nuclear type 23
MONDO:0859521	oocyte maturation defect 14
MONDO:0859522	spermatogenic failure 81
MONDO:0859524	hearing loss, autosomal dominant 86
MONDO:0859525	hearing loss, autosomal dominant 87
MONDO:0859527	hearing loss, autosomal dominant 88
MONDO:0859528	hearing loss, autosomal dominant 89
MONDO:0859529	amyotrophic lateral sclerosis 27, juvenile
MONDO:0859530	myopathy, sarcoplasmic body
MONDO:0859531	neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0016112	hereditary inclusion-body myopathy	inclusion myopathy	hereditary inclusion-body myopathy
MONDO:0000866	hereditary myoglobinuria	myoglobinuria	hereditary myoglobinuria
MONDO:0019524	Bartter syndrome type 4	infantile Bartter syndrome with sensorineural deafness	Bartter syndrome type 4
MONDO:0021167	myositis disease	myositis	myositis disease
MONDO:0006648	anterior compartment of tibia syndrome	anterior compartment syndrome	anterior compartment of tibia syndrome
MONDO:0007809	ichthyosis histrix, Lambert type	ichthyosis hystrix gravior	ichthyosis histrix, Lambert type
MONDO:0800406	ABCA4 retinoapthy	ABCA4-related retinoapthy	ABCA4 retinoapthy
MONDO:0100122	GNPTAB-mucolipidosis	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency	GNPTAB-mucolipidosis
MONDO:0009652	GNPTG-mucolipidosis	mucolipidosis type III gamma	GNPTG-mucolipidosis
MONDO:0009798	Primrose syndrome	intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Primrose syndrome
MONDO:0009901	Bartsocas-Papas syndrome 1	Bartsocas-Papas syndrome	Bartsocas-Papas syndrome 1
MONDO:0010339	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	X-linked epilepsy-learning disabilities-behavior disorders syndrome	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
MONDO:0010389	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
MONDO:0011242	Bartter disease type 4A	Bartter disease type 4a	Bartter disease type 4A
MONDO:0012239	congenital myopathy 4B, autosomal recessive	nemaline myopathy 1	congenital myopathy 4B, autosomal recessive
MONDO:0012517	Gaucher disease due to saposin C deficiency	atypical Gaucher disease due to saposin C deficiency	Gaucher disease due to saposin C deficiency
MONDO:0012719	combined PSAP deficiency	encephalopathy due to prosaposin deficiency	combined PSAP deficiency
MONDO:0012720	Krabbe disease due to saposin A deficiency	Krabbe disease, atypical, due to saposin A deficiency	Krabbe disease due to saposin A deficiency
MONDO:0013214	bile acid malabsorption, primary, 1	bile acid malabsorption, primary	bile acid malabsorption, primary, 1
MONDO:0013881	pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome	pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
MONDO:0014561	3-methylglutaconic aciduria, type VIIB	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	3-methylglutaconic aciduria, type VIIB
MONDO:0014943	mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);	mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MONDO:0017726	Tay-Sachs disease, B variant, adult form	Tay-Sachs disease, b variant, adult form	Tay-Sachs disease, B variant, adult form
MONDO:0019765	celosomia	Celosomia	celosomia
MONDO:0030449	hearing loss, autosomal recessive 118, with cochlear aplasia	deafness, autosomal recessive 118, with cochlear aplasia	hearing loss, autosomal recessive 118, with cochlear aplasia
MONDO:0030719	hearing loss, autosomal dominant 82	deafness, autosomal dominant 82	hearing loss, autosomal dominant 82
MONDO:0031068	Charcot-Marie-Tooth disease, axonal, IIa 2II	charcot-marie-tooth disease, axonal,IIa 2II	Charcot-Marie-Tooth disease, axonal, IIa 2II
MONDO:0031071	Diamond-Blackfan anemia 21	diamond-blackfan anemia 21	Diamond-Blackfan anemia 21
MONDO:0043116	Iida Kannari syndrome	iida kannari syndrome	Iida Kannari syndrome
MONDO:0100023	self-limited familial neonatal epilepsy	self-limited familial and non-familial neonatal seizures	self-limited familial neonatal epilepsy
MONDO:0800341	congenital myopathy 4A, autosomal dominant	cap myopathy 1	congenital myopathy 4A, autosomal dominant

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0019524	Bartter syndrome type 4	Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.	A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.
MONDO:0004247	peptic ulcer disease	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin.
MONDO:0004914	celiac artery stenosis from compression by median arcuate ligament of diaphragm	A syndromic disease that involves the median arcuate ligament.	A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.
MONDO:0007872	LADD syndrome	Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.	A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
MONDO:0016063	Cowden disease		A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
MONDO:0020478	Leber plus disease	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
MONDO:0009652	GNPTG-mucolipidosis	Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.	A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
MONDO:0009798	Primrose syndrome	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
MONDO:0009901	Bartsocas-Papas syndrome 1	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
MONDO:0010281	Danon disease	Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	A lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
MONDO:0010339	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
MONDO:0010389	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.	Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
MONDO:0031421	Olmsted syndrome		A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
MONDO:0011191	capillary infantile hemangioma		Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover. Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported.
MONDO:0012239	congenital myopathy 4B, autosomal recessive	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.	Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.
MONDO:0013881	pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.	A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
MONDO:0013934	combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).	A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
MONDO:0014226	idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
MONDO:0014529	cerebellar-facial-dental syndrome		A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
MONDO:0014561	3-methylglutaconic aciduria, type VIIB	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.
MONDO:0030300	cardiomyopathy, dilated, 2D		A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
MONDO:0030366	cardiomyopathy, dilated, 2E		A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
MONDO:0030680	cardiomyopathy, dilated, 2F		A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.
MONDO:0030887	cardiomyopathy, dilated, 2G		A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
MONDO:0032592	cardiomyopathy, dilated, 2c		A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
MONDO:0100023	self-limited familial neonatal epilepsy	A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress.	A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.
MONDO:0100296	Olmsted syndrome 1	Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
MONDO:0700215	NTRK fusion positive cancer	Neoplasm defined by the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.	Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.
MONDO:0700216	RET fusion positive cancer	Neoplasm defined by the expression of a RET (REarranged during Transfection) fusion.	Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.
MONDO:0800368	cardiomyopathy, dilated, 1MM		A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.

Obsolete terms

Mondo ID	Label
MONDO:0007649	obsolete gastric juice peptides
MONDO:0008120	obsolete spinocerebellar ataxia type 7
MONDO:0015216	obsolete syndromic diaphragmatic or abdominal wall malformation
MONDO:0011649	obsolete AVSD 1
MONDO:0014834	obsolete dyskinesia, limb and orofacial, infantile-onset
MONDO:0015215	obsolete non-syndromic diaphragmatic or abdominal wall malformation
MONDO:0015594	obsolete non-paraneoplastic limbic encephalitis
MONDO:0016251	obsolete salivary gland type cancer of the breast
MONDO:0016317	obsolete limbic encephalitis with NMDA receptor antibodies
MONDO:0016808	obsolete mitochondrial DNA depletion syndrome, hepatocerebral form
MONDO:0018303	obsolete generalized isolated dystonia
MONDO:0018351	obsolete adenocarcinoma of penis
MONDO:0018527	obsolete osteoclastic giant cell tumor of pancreas
MONDO:0018834	obsolete adenylosuccinate synthetase-like 1-related distal myopathy
MONDO:0019899	obsolete distal monosomy 20q
MONDO:0020021	obsolete diaphragmatic or abdominal wall malformation
MONDO:0021257	obsolete glomus jugulare neoplasm
MONDO:0033187	obsolete combined oxidative phosphorylation defect type 29
MONDO:0044683	obsolete limbic encephalitis with neurexin-3 antibodies
MONDO:0800303	obsolete hypophosphatasia, perinatal lethal
MONDO:0800316	obsolete contiguous ABCD1/DXS1375E deletion syndrome
MONDO:0800343	obsolete rhegmatogenous retinal detachment, autosomal dominant

New obsoletion candidates

Mondo ID	Label
MONDO:0000770	shellfish allergy
MONDO:0005290	rhabdomyolysis
MONDO:0100321	viral disease or post-viral disorder
MONDO:0016123	muscular tumor
MONDO:0005307	contracture
MONDO:0005849	milk allergic reaction
MONDO:0005902	peanut allergic reaction
MONDO:0006516	sarcopenia
MONDO:0020245	disease predisposing to age-related macular degeneration
MONDO:0007981	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A
MONDO:0016117	muscular lipidosis
MONDO:0019201	thyrotoxic periodic paralysis
MONDO:0016118	muscular glycogenosis
MONDO:0018344	periodic paralysis with transient compartment-like syndrome

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

No changes.