v2022-08-01

Overview:

• Number of new terms: 19
• Number of changed labels: 6
• Number of changed definitions: 35
• Number obsoleted terms: 34
• Number of new obsoletion candidates: 34
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0030827	macrothrombocytopenia, isolated, 2, autosomal dominant
MONDO:0030839	thyroid hormone metabolism, abnormal, 2
MONDO:0031432	thyroid hormone metabolism, abnormal
MONDO:0031447	macrothrombocytopenia, isolated
MONDO:0100498	UROD-related inherited porphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.
MONDO:0100502	NTHL1-deficiency tumor predisposition syndrome	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
MONDO:0100503	DPH5-related diphthamide-deficiency syndrome	A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.
MONDO:0100504	fungal infection of the toenail	A fungal infectious disease that involves the toenail.
MONDO:0100505	food dermatitis	Dermatitis caused by an allergic reaction to ingested food.
MONDO:0100506	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.
MONDO:0700082	Robertsonian translocation Down syndrome	Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.
MONDO:0700083	reciprocal translocation down syndrome	Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.
MONDO:0700093	balanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0700094	unbalanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.
MONDO:0800046	thyroid hormone metabolism, abnormal 1	A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
MONDO:0800047	macrothrombocytopenia, isolated, 1, autosomal dominant	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
MONDO:0800104	immunodeficiency 105	Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
MONDO:0800105	catatonia	A psychiatric disorder featuring stupor, posturing, and echophenomena.
MONDO:0800106	disruptive behavior disorder	A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007962	megalodactyly	Megalodactyly	megalodactyly
MONDO:0008075	schwannomatosis	neurofibromatosis type 3	schwannomatosis
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	X-linked intellectual disability-hypotonic face syndrome	intellectual disability-hypotonic facies syndrome, X-linked, 1
MONDO:0012163	immunodeficiency 104	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	immunodeficiency 104
MONDO:0013784	neonatal-onset encephalopathy with rigidity and seizures	lethal neonatal spasticity-epileptic encephalopathy syndrome	neonatal-onset encephalopathy with rigidity and seizures
MONDO:0700130	partial segmental duplication	partial trisomy 21	partial segmental duplication

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0004598	acute cor pulmonale	Acute form of cor pulmonale.	A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.
MONDO:0017666	diffuse palmoplantar keratoderma		Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.
MONDO:0007113	Angelman syndrome	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
MONDO:0007168	atelosteogenesis type III	Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
MONDO:0016524	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood	An alteration in limb growth caused by congenital vascular malformations in childhood.
MONDO:0019270	erythrokeratoderma		An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.
MONDO:0008608	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
MONDO:0008075	schwannomatosis	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
MONDO:0015104	porphyria cutanea tarda	Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.
MONDO:0008756	alopecia - intellectual disability syndrome	Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
MONDO:0016006	Cockayne syndrome	Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.	A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
MONDO:0009028	Crane-Heise syndrome	Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
MONDO:0009412	scurvy	Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.	A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.
MONDO:0009727	atelosteogenesis type II	Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.	A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
MONDO:0010651	Menkes disease	Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.	A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
MONDO:0010661	severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
MONDO:0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.	A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
MONDO:0010886	2q37 microdeletion syndrome	Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.	A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
MONDO:0011017	Naxos disease	Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
MONDO:0011240	megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.	A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
MONDO:0013038	CLOVES syndrome	CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
MONDO:0013970	branched-chain keto acid dehydrogenase kinase deficiency	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
MONDO:0014958	Harel-Yoon syndrome		A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.
MONDO:0016249	hereditary site-specific ovarian cancer syndrome	Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.	Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.
MONDO:0017177	hemihyperplasia-multiple lipomatosis syndrome	Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.	A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
MONDO:0017812	segmental progressive overgrowth syndrome with fibroadipose hyperplasia		A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.
MONDO:0017851	erythrokeratodermia variabilis	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.
MONDO:0018341	3q27.3 microdeletion syndrome	3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
MONDO:0018564	3p25.3 microdeletion syndrome	3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
MONDO:0019139	acquired hemophilia	Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes.	Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.
MONDO:0019640	posterior urethral valve	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
MONDO:0019799	hepatoerythropoietic porphyria	Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.	A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.
MONDO:0030837	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities		An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.
MONDO:0100468	Batten-Turner congenital myopathy	A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.	A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
MONDO:0700128	translocation Down syndrome	Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome.	Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.

Obsolete terms

Mondo ID	Label
MONDO:0000238	obsolete pestis minor
MONDO:0001306	obsolete recurrent corneal erosion
MONDO:0001321	obsolete scleral staphyloma
MONDO:0001424	obsolete sarcoid meningitis
MONDO:0001578	obsolete hernia of ovary and fallopian tube
MONDO:0002336	obsolete inflammatory and toxic neuropathy
MONDO:0001946	obsolete hyperestrogenism
MONDO:0004033	obsolete familial ovarian carcinoma
MONDO:0004268	obsolete subareolar duct papillomatosis
MONDO:0005049	obsolete intracranial hemorrhage
MONDO:0005482	obsolete molar-incisor hypomineralization
MONDO:0005862	obsolete multiple chemical sensitivity
MONDO:0006185	obsolete ductal or ductular proliferation
MONDO:0006560	obsolete hypohidrosis
MONDO:0006661	obsolete ascorbic acid deficiency
MONDO:0007578	obsolete esterase B
MONDO:0007579	obsolete esterase C
MONDO:0007580	obsolete esterase ES-2, regulator for
MONDO:0007583	obsolete exostoses of heel
MONDO:0007816	obsolete immune suppression
MONDO:0020236	obsolete lens position anomaly
MONDO:0009812	obsolete osteomalacia, sclerosing, with cerebral calcification
MONDO:0010034	obsolete anosmia for butyl mercaptan
MONDO:0011763	obsolete T-box 24
MONDO:0012332	obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency
MONDO:0013141	obsolete autosomal dominant macrothrombocytopenia TUBB1-related
MONDO:0013809	obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
MONDO:0016275	obsolete adenocarcinoma of cervix uteri
MONDO:0016286	obsolete adenoid cystic carcinoma of the cervix uteri
MONDO:0035635	obsolete short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
MONDO:0044652	obsolete optic atrophy-peripheral neuropathy-developmental delay syndrome
MONDO:0044987	obsolete face disorder
MONDO:0044998	obsolete carpal region disorder
MONDO:0044999	obsolete scalp disorder

New obsoletion candidates

Mondo ID	Label
MONDO:0000237	erysipeloid
MONDO:0000561	spinocerebellar ataxia type 16
MONDO:0004721	liver neoplasm
MONDO:0001524	globe disease
MONDO:0005218	muscular disorder
MONDO:0002454	thyroid adenoma
MONDO:0018351	adenocarcinoma of penis
MONDO:0004595	acute pulmonary heart disease
MONDO:0004935	acquired carotenemia
MONDO:0005410	acute graft vs. host disease
MONDO:0041161	endometrial hyperplasia
MONDO:0015077	adrenal/paraganglial tumor
MONDO:0007806	hypotrichosis 4
MONDO:0016808	mitochondrial DNA depletion syndrome, hepatocerebral form
MONDO:0008996	COACH syndrome 1
MONDO:0009628	microcolon
MONDO:0010050	spastic pseudosclerosis
MONDO:0018303	generalized isolated dystonia
MONDO:0011751	COPD, severe early onset
MONDO:0011940	mycobacterium tuberculosis, susceptibility to
MONDO:0012663	Plasmodium falciparum fever episodes quantitative trait locus 1
MONDO:0014958	Harel-Yoon syndrome
MONDO:0015848	septate vagina
MONDO:0015934	non-syndromic urogenital tract malformation of male and female
MONDO:0016251	salivary gland type cancer of the breast
MONDO:0018527	osteoclastic giant cell tumor of pancreas
MONDO:0018560	anterior urethral valve
MONDO:0019775	Chudley-Lowry-Hoar syndrome
MONDO:0019776	Juberg-Marsidi syndrome
MONDO:0019778	Smith-Fineman-Myers syndrome
MONDO:0019779	Renier-Gabreels-Jasper syndrome
MONDO:0021257	glomus jugulare neoplasm
MONDO:0021664	cervical aortic arch
MONDO:0042915	Schmitt-Gillenwater-Kelly syndrome

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

Mondo ID	Label
MONDO:0000508	syndromic intellectual disability