v2022-03-01

Overview:

• Number of new terms: 81
• Number of changed labels: 23
• Number of changed definitions: 28
• Number obsoleted terms: 235
• Number of new obsoletion candidates: 47
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0030374	WHIM syndrome 2
MONDO:0030375	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MONDO:0030376	Martsolf syndrome 2
MONDO:0030378	combined oxidative phosphorylation deficiency 53
MONDO:0030397	portal hypertension, noncirrhotic, 2
MONDO:0030399	visceral neuropathy, familial, 2, autosomal recessive
MONDO:0030423	congenital disorder of glycosylation, type 2v
MONDO:0030428	immunodeficiency 85 and autoimmunity
MONDO:0030430	spermatogenic failure 56
MONDO:0030433	Charcot-Marie-Tooth disease, axonal, type 2FF
MONDO:0030434	epilepsy, idiopathic generalized, susceptibility to, 18
MONDO:0030436	anemia, sideroblastic, 5
MONDO:0030437	congenital disorder of glycosylation, type IIw
MONDO:0030438	pontocerebellar hypoplasia, type 16
MONDO:0030439	spermatogenic failure 57
MONDO:0030440	cone-rod dystrophy 22
MONDO:0030448	immunodeficiency 86
MONDO:0030449	deafness, autosomal recessive 118, with cochlear aplasia
MONDO:0030453	developmental and epileptic encephalopathy 97
MONDO:0030454	Joubert syndrome 39
MONDO:0030455	dystonia 31
MONDO:0030456	muscular dystrophy, limb-girdle, autosomal recessive 27
MONDO:0030457	immunodeficiency 87 and autoimmunity
MONDO:0030458	Charcot-Marie-Tooth disease, axonal, Type 2HH
MONDO:0030462	Joubert syndrome 40
MONDO:0030463	spermatogenic failure 58
MONDO:0030465	cataract 49
MONDO:0030471	Galloway-Mowat syndrome 9
MONDO:0030472	developmental and epileptic encephalopathy 98
MONDO:0030473	developmental and epileptic encephalopathy 99
MONDO:0030474	heterotaxy, visceral, 10, autosomal, with male infertility
MONDO:0030475	heterotaxy, visceral, 11, autosomal, with male infertility
MONDO:0030476	Galloway-Mowat syndrome 10
MONDO:0030480	hearing loss, autosomal recessive 119
MONDO:0030482	spastic paraplegia 84, autosomal recessive
MONDO:0030483	immunodeficiency 88
MONDO:0030484	immunodeficiency 89 and autoimmunity
MONDO:0030486	dystonia 32
MONDO:0030487	spondylometaphyseal dysplasia, pagnamenta type
MONDO:0030489	epidermolysis bullosa simplex 2A, generalized severe
MONDO:0030490	oocyte maturation defect 11
MONDO:0030491	immunodeficiency 91 and hyperinflammation
MONDO:0030492	spermatogenic failure 59
MONDO:0030493	spermatogenic failure 60
MONDO:0030498	immunodeficiency 92
MONDO:0030500	Loeys-Dietz syndrome 6
MONDO:0030503	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
MONDO:0030505	cholestasis, progressive familial intrahepatic, 8
MONDO:0030506	ovarian dysgenesis 9
MONDO:0030507	spermatogenic failure 61
MONDO:0030508	spermatogenic failure 62
MONDO:0030512	spastic paraplegia 85, autosomal recessive
MONDO:0030513	dystonia 33
MONDO:0030514	leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
MONDO:0030515	spermatogenic failure 63
MONDO:0030517	trichothiodystrophy 8, nonphotosensitive
MONDO:0030518	trichothiodystrophy 9, nonphotosensitive
MONDO:0030519	agammaglobulinemia 9, autosomal recessive
MONDO:0030522	spermatogenic failure 64
MONDO:0030523	oocyte maturation defect 12
MONDO:0030524	mucopolysaccharidosis, type 10
MONDO:0030525	epidermolysis bullosa simplex 2B, generalized intermediate
MONDO:0030527	epidermolysis bullosa simplex 2C, localized
MONDO:0030528	immunodeficiency 93 and hypertrophic cardiomyopathy
MONDO:0030529	agammaglobulinemia 10, autosomal dominant
MONDO:0030531	spermatogenic failure 65
MONDO:0030533	intellectual developmental disorder, autosomal recessive 73
MONDO:0030534	hypogonadotropic hypogonadism 26 with or without anosmia
MONDO:0030535	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
MONDO:0030538	dystonia 34, myoclonic
MONDO:0030543	combined oxidative phosphorylation deficiency 54
MONDO:0030553	acromesomelic dysplasia 4
MONDO:0030606	Bryant-Li-Bhoj neurodevelopmental syndrome 1
MONDO:0030607	Bryant-Li-Bhoj neurodevelopmental syndrome 2
MONDO:0031200	Bryant-Li-Bhoj neurodevelopmental syndrome
MONDO:0100485	KCNH1 associated disorder	Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.
MONDO:0100486	adult acne	Acne that occurs in an adult.
MONDO:0700038	TDP-43 proteinopathy	Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
MONDO:0700039	bladder exstrophy-epispadias-cloacal extrophy complex	An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.
MONDO:0700040	neonatal jaundice due to ABO incompatibility	Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.
MONDO:0700041	neuroblastoma, susceptibility to, 2

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0007064	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	adenosine deaminase deficiency	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007219	Osebold-Remondini syndrome	brachydactyly type A6	Osebold-Remondini syndrome
MONDO:0007550	epidermolysis bullosa simplex 1A, generalized severe	epidermolysis bullosa simplex Dowling-Meara type	epidermolysis bullosa simplex 1A, generalized severe
MONDO:0007551	epidermolysis bullosa simplex 1C, localized	localized epidermolysis bullosa simplex	epidermolysis bullosa simplex 1C, localized
MONDO:0007554	epidermolysis bullosa simplex 1B, generalized intermediate	generalized epidermolysis bullosa simplex, non-Dowling-Meara type	epidermolysis bullosa simplex 1B, generalized intermediate
MONDO:0007555	pidermolysis bullosa simplex 5A, Ogna type	epidermolysis bullosa simplex Ogna type	pidermolysis bullosa simplex 5A, Ogna type
MONDO:0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation	epidermolysis bullosa simplex with mottled pigmentation	epidermolysis bullosa simplex 2F, with mottled pigmentation
MONDO:0008703	acromesomelic dysplasia 2A	acromesomelic dysplasia, Grebe type	acromesomelic dysplasia 2A
MONDO:0008717	acromesomelic dysplasia 2C, Hunter-Thompson type	acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dysplasia 2C, Hunter-Thompson type
MONDO:0009181	epidermolysis bullosa simplex 5B, with muscular dystrophy	epidermolysis bullosa simplex with muscular dystrophy	epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009231	acromesomelic dysplasia 2B	fibular hypoplasia and complex brachydactyly	acromesomelic dysplasia 2B
MONDO:0009741	neuroblastoma, susceptibility to, 1	neuroblastoma, susceptibility to	neuroblastoma, susceptibility to, 1
MONDO:0017919	exstrophy-epispadias complex	bladder exstrophy-epispadias-cloacal exstrophy complex	exstrophy-epispadias complex
MONDO:0016826	methylmalonic aciduria and homocystinuria	methylmalonic acidemia with homocystinuria	methylmalonic aciduria and homocystinuria
MONDO:0010976	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	KRT14-related epidermolysis bullosa simplex	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
MONDO:0011275	acromesomelic dysplasia 1, Maroteaux type	acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia 1, Maroteaux type
MONDO:0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema	epidermolysis bullosa simplex with circinate migratory erythema	epidermolysis bullosa simplex 2E, with migratory circinate erythema
MONDO:0012274	acromesomelic dysplasia 3	acromesomelic dysplasia, Demirhan type	acromesomelic dysplasia 3
MONDO:0012807	epidermolysis bullosa simplex 5C, with pyloric atresia	epidermolysis bullosa simplex with pyloric atresia	epidermolysis bullosa simplex 5C, with pyloric atresia
MONDO:0013144	hereditary antithrombin deficiency	antithrombin III deficiency	hereditary antithrombin deficiency
MONDO:0014014	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	epidermolysis bullosa simplex due to exophilin 5 deficiency	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
MONDO:0014180	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	epidermolysis bullosa simplex due to BP230 deficiency	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
MONDO:0015006	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0015140	early-onset autosomal dominant Alzheimer disease	Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.	A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
MONDO:0007219	Osebold-Remondini syndrome	Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
MONDO:0019696	acromesomelic dysplasia	Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type	A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
MONDO:0007550	epidermolysis bullosa simplex 1A, generalized severe	Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
MONDO:0007551	epidermolysis bullosa simplex 1C, localized	Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
MONDO:0007555	pidermolysis bullosa simplex 5A, Ogna type	Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
MONDO:0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
MONDO:0008703	acromesomelic dysplasia 2A	Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
MONDO:0008872	microcephalic osteodysplastic primordial dwarfism type II	'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'	A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
MONDO:0009049	Cushing syndrome due to macronodular adrenal hyperplasia	ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.	A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.
MONDO:0009181	epidermolysis bullosa simplex 5B, with muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
MONDO:0016826	methylmalonic aciduria and homocystinuria	Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).	An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
MONDO:0010490	SSR4-CDG	(Xq28).	A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).
MONDO:0016297	prelingual non-syndromic genetic hearing loss	Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.
MONDO:0010881	mesomelia-synostoses syndrome	Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.	A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
MONDO:0010976	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.	A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
MONDO:0011847	migraine without aura, susceptibility to, 4	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.	An inherited susceptibility or predisposition to developing migraines without aura.
MONDO:0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema	Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
MONDO:0012735	Temple-Baraitser syndrome	Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
MONDO:0012807	epidermolysis bullosa simplex 5C, with pyloric atresia	Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
MONDO:0013082	Hirschsprung disease-ganglioneuroblastoma syndrome		A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
MONDO:0013144	hereditary antithrombin deficiency	A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.	A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
MONDO:0017178	osteochondritis dissecans	A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
MONDO:0017712	combined pancreatic lipase-colipase deficiency	\Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990."	A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
MONDO:0019167	immunoglobulin a vasculitis	SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.	A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.
MONDO:0019984	renal tubular dysgenesis due to twin-twin transfusion	'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'	An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).
MONDO:0020050	autosomal trisomy	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.

Obsolete terms

Mondo ID	Label
MONDO:0019708	obsolete primary bone dysplasia with disorganized development of skeletal components
MONDO:0003127	obsolete embryoma
MONDO:0006251	obsolete inclusion body fibromatosis
MONDO:0018627	obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
MONDO:0006785	obsolete Henoch-Schoenlein purpura
MONDO:0015501	obsolete syndrome or malformation associated with head and neck malformations
MONDO:0018232	obsolete primary bone dysplasia with micromelia
MONDO:0016436	obsolete acquired dermis elastic tissue disorder with increased elastic tissue
MONDO:0019700	obsolete primary bone dysplasia with multiple joint dislocations
MONDO:0015657	obsolete inflammatory and autoimmune disease with epilepsy
MONDO:0017370	obsolete autoinflammatory syndrome with skin involvement
MONDO:0019703	obsolete primary bone dysplasia with increased bone density
MONDO:0020226	obsolete chromosomal anomaly with cataract
MONDO:0019704	obsolete primary bone dysplasia with decreased bone density
MONDO:0018231	obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
MONDO:0019305	obsolete immune deficiency with skin involvement
MONDO:0017311	obsolete rare disease with thoracic aortic aneurysm and aortic dissection
MONDO:0018790	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
MONDO:0015218	obsolete syndromic developmental defect of the eye
MONDO:0015220	obsolete syndrome with a central nervous system malformation as major feature
MONDO:0019827	obsolete disease associated with non-acquired combined pituitary hormone deficiency
MONDO:0015651	obsolete neurocutaneous syndrome with epilepsy
MONDO:0016337	obsolete syndrome associated with dilated cardiomyopathy
MONDO:0017118	obsolete syndrome with a cerebellar malformation as major feature
MONDO:0017035	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
MONDO:0015329	obsolete malformation syndrome with short stature
MONDO:0019705	obsolete primary bone dysplasia with defective bone mineralization
MONDO:0015945	obsolete polymalformative genetic syndrome with increased risk of developing cancer
MONDO:0015336	obsolete malformation syndrome with odontal and/or periodontal component
MONDO:0017272	obsolete autosomal ichthyosis syndrome with prominent neurologics signs
MONDO:0020228	obsolete cataract associated with a metabolic disease
MONDO:0020281	obsolete metabolic disease with pigmentary retinitis
MONDO:0017432	obsolete syndrome with limb reduction defects
MONDO:0020232	obsolete musculoskeletal disease with cataract
MONDO:0016399	obsolete amino acid or protein metabolism disease with epilepsy
MONDO:0016402	obsolete mitochondrial disease with epilepsy
MONDO:0016403	obsolete mitochondrial disease with peripheral neuropathy
MONDO:0015920	obsolete syndromic neurometabolic disease with X-linked intellectual disability
MONDO:0016326	obsolete lysosomal disease with hypertrophic cardiomyopathy
MONDO:0019301	obsolete metabolic disease with skin involvement
MONDO:0019706	obsolete lysosomal storage disease with skeletal involvement
MONDO:0015188	obsolete metabolic disorder with intestinal involvement
MONDO:0015895	obsolete syndrome with hypoparathyroidism
MONDO:0016792	obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
MONDO:0011140	obsolete benign familial neonatal-infantile seizures
MONDO:0017271	obsolete autosomal ichthyosis syndrome with prominent hair abnormalities
MONDO:0017021	obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease
MONDO:0015877	obsolete malformative syndrome with dentinogenesis imperfecta
MONDO:0018558	obsolete syndrome with woolly hair
MONDO:0018718	obsolete vascular tumor with associated anomalies
MONDO:0020182	obsolete palpebral tumor with a vascular malformation
MONDO:0012501	obsolete mutagen sensitivity
MONDO:0015659	obsolete infectious disease with epilepsy
MONDO:0019066	obsolete syndrome with brachydactyly
MONDO:0015655	obsolete cerebral malformation with epilepsy
MONDO:0013617	obsolete overgrowth-macrocephaly-facial dysmorphism syndrome
MONDO:0016334	obsolete neuromuscular disease with dilated cardiomyopathy
MONDO:0017020	obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease
MONDO:0015052	obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
MONDO:0015081	obsolete neuroendocrine tumor with other location
MONDO:0020266	obsolete genodermatosis with ocular features
MONDO:0015136	obsolete immunodeficiency due to a genetic complement cascade protein anomaly
MONDO:0015181	obsolete congenital intestinal disease due to an enzymatic defect
MONDO:0020138	obsolete ataxia with dementia
MONDO:0015331	obsolete malformation syndrome with skin/mucosae involvement
MONDO:0015495	obsolete otomandibular dysplasia associated with monogenic syndromes
MONDO:0017641	obsolete miscellaneous movement disorder due to neurodegenerative disease
MONDO:0017662	obsolete miscellaneous movement disorder due to genetic neurodegenerative disease
MONDO:0015572	obsolete cerebral malformation due to abnormal neuronal migration
MONDO:0015581	obsolete bile acid synthesis defect with cholestasis and malabsorption
MONDO:0015654	obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
MONDO:0015656	obsolete metabolic disease with epilepsy
MONDO:0015658	obsolete cerebral diseases of vascular origin with epilepsy
MONDO:0015709	obsolete immunodeficiency syndrome with autoimmunity
MONDO:0015710	obsolete immune dysregulation disease with immunodeficiency
MONDO:0015711	obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
MONDO:0018035	obsolete syndrome with combined immunodeficiency
MONDO:0020063	obsolete malformation syndrome with hamartosis
MONDO:0015789	obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
MONDO:0015825	obsolete obesity due to congenital leptin resistance
MONDO:0015919	obsolete syndromic neurometabolic disease with non-X-linked intellectual disability
MONDO:0015922	obsolete channelopathy with epilepsy
MONDO:0015928	obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
MONDO:0016177	obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
MONDO:0017952	obsolete non-familial rare disease with dilated cardiomyopathy
MONDO:0020253	obsolete syndrome with a symptomatic strabismus
MONDO:0016050	obsolete thiamine-responsive encephalopathy
MONDO:0016104	obsolete infectious disease with peripheral neuropathy
MONDO:0016136	obsolete cerebellar ataxia with peripheral neuropathy
MONDO:0016137	obsolete acute and subacute inflammatory demyelinating polyneuropathy
MONDO:0016178	obsolete peripheral neuropathy associated with monoclonal gammopathy
MONDO:0016180	obsolete hematological disease associated with an acquired peripheral neuropathy
MONDO:0016181	obsolete solid tumor associated with an acquired peripheral neuropathy
MONDO:0016235	obsolete complex vascular malformation with associated anomalies
MONDO:0016325	obsolete glycogen storage disease with hypertrophic cardiomyopathy
MONDO:0016327	obsolete mitochondrial disease with hypertrophic cardiomyopathy
MONDO:0016328	obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
MONDO:0016335	obsolete mitochondrial disease with dilated cardiomyopathy
MONDO:0016336	obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
MONDO:0016341	obsolete lysosomal disease with restrictive cardiomyopathy
MONDO:0020280	obsolete metabolic disease with cataract
MONDO:0016397	obsolete lysosomal disease with epilepsy
MONDO:0016398	obsolete peroxisomal disease with epilepsy
MONDO:0016400	obsolete metal transport or utilization disorder with epilepsy
MONDO:0016401	obsolete energy metabolism disorder with epilepsy
MONDO:0016405	obsolete sterol metabolism disorder with epilepsy
MONDO:0016435	obsolete acquired dermis elastic tissue disorder with decreased elastic tissue
MONDO:0016488	obsolete beta-thalassemia associated with another hemoglobin anomaly
MONDO:0016492	obsolete beta-thalassemia with other manifestations
MONDO:0018395	obsolete male infertility due to sperm motility disorder
MONDO:0016578	obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
MONDO:0016628	obsolete hemorrhagic disorder due to a coagulation factors defect
MONDO:0016704	obsolete glial tumor of neuroepithelial tissue with unknown origin
MONDO:0016754	obsolete vestibular schwannoma
MONDO:0016791	obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
MONDO:0016793	obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
MONDO:0016795	obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
MONDO:0016799	obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism
MONDO:0017016	obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder
MONDO:0017017	obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder
MONDO:0017022	obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
MONDO:0017023	obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease
MONDO:0017024	obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease
MONDO:0017028	obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease
MONDO:0017032	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
MONDO:0017033	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
MONDO:0017037	obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
MONDO:0017038	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
MONDO:0017119	obsolete syndrome with microcephaly as major feature
MONDO:0017121	obsolete syndrome with a Dandy-Walker malformation as major feature
MONDO:0017150	obsolete pulmonary arterial hypertension associated with another disease
MONDO:0017151	obsolete pulmonary arterial hypertension associated with connective tissue disease
MONDO:0017152	obsolete pulmonary arterial hypertension associated with congenital heart disease
MONDO:0017153	obsolete pulmonary arterial hypertension associated with HIV infection
MONDO:0017154	obsolete pulmonary arterial hypertension associated with portal hypertension
MONDO:0017155	obsolete pulmonary arterial hypertension associated with schistosomiasis
MONDO:0017156	obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia
MONDO:0017158	obsolete pulmonary hypertension with unclear multifactorial mechanism
MONDO:0017163	obsolete hemolytic disease due to fetomaternal alloimmunization
MONDO:0017273	obsolete autosomal ichthyosis syndrome with fatal disease course
MONDO:0017333	obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
MONDO:0017369	obsolete autoinflammatory syndrome with immune deficiency
MONDO:0017390	obsolete methylmalonic acidemia without homocystinuria
MONDO:0017434	obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
MONDO:0017635	obsolete parkinsonian syndrome due to neurodegenerative disease
MONDO:0017643	obsolete frontotemporal neurodegeneration with movement disorder
MONDO:0017646	obsolete neurodegenerative disease with chorea
MONDO:0017647	obsolete postinfectious autoimmune disease with chorea
MONDO:0017693	obsolete glycogen storage disease due to glycogen synthase deficiency
MONDO:0017717	obsolete metabolic disease due to other fatty acid oxidation disorder
MONDO:0017718	obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
MONDO:0017841	obsolete autoimmune disease with skin involvement
MONDO:0017897	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
MONDO:0017898	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0017899	obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MONDO:0017956	obsolete mixed autoinflammatory and autoimmune syndrome
MONDO:0017965	obsolete syndrome with 46,XX disorder of sex development
MONDO:0017970	obsolete 46,XY disorder of sex development due to impaired androgen production
MONDO:0017971	obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect
MONDO:0018118	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
MONDO:0018036	obsolete immunodeficiency due to absence of thymus
MONDO:0018042	obsolete immunodeficiency syndrome with abnormal pigmentation
MONDO:0020276	obsolete pigmentation disorder with eye involvement, excluding albinism
MONDO:0018119	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
MONDO:0018120	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
MONDO:0018132	obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
MONDO:0018157	obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis
MONDO:0018251	obsolete glycogen storage disease due to phosphorylase kinase deficiency
MONDO:0018284	obsolete congenital disorder of glycosylation with neurological involvement
MONDO:0018288	obsolete congenital disorder of glycosylation with hepatic involvement
MONDO:0018289	obsolete congenital disorder of glycosylation with dilated cardiomyopathy
MONDO:0018291	obsolete congenital disorder of glycosylation with intestinal involvement
MONDO:0018293	obsolete congenital disorder of glycosylation with skin involvement
MONDO:0018296	obsolete congenital disorder of glycosylation with developmental anomaly
MONDO:0018335	obsolete deep dermatophytosis
MONDO:0018389	obsolete male infertility due to gonadal dysgenesis or sperm disorder
MONDO:0018390	obsolete male infertility due to sperm disorder
MONDO:0018391	obsolete male infertility with spermatogenesis disorder
MONDO:0018392	obsolete male infertility with spermatogenesis disorder due to single gene mutation
MONDO:0018398	obsolete female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0018402	obsolete female infertility due to gonadal dysgenesis
MONDO:0018403	obsolete female infertility due to an implantation defect
MONDO:0018407	obsolete male infertility due to obstructive azoospermia of genetic origin
MONDO:0018414	obsolete female infertility due to an implantation defect of genetic origin
MONDO:0018444	obsolete female infertility due to fertilization defect
MONDO:0018549	obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies
MONDO:0018618	obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
MONDO:0018649	obsolete cerebral visual impairment
MONDO:0018727	obsolete immunodeficiency due to a complement regulatory deficiency
MONDO:0018750	obsolete class I glucose-6-phosphate dehydrogenase deficiency
MONDO:0018789	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
MONDO:0020229	obsolete cerebral disease with cataract
MONDO:0019594	obsolete 46,XY disorder of sex development due to a testosterone synthesis defect
MONDO:0019595	obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
MONDO:0019596	obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect
MONDO:0019715	obsolete syndrome with synostosis or other joint formation defect
MONDO:0019717	obsolete chromosomal disease with overgrowth
MONDO:0019747	obsolete hematological disorder with renal involvement
MONDO:0019853	obsolete congenital hypothyroidism due to developmental anomaly
MONDO:0019856	obsolete primary congenital hypothyroidism without thyroid developmental anomaly
MONDO:0019859	obsolete congenital thyroid malformation without hypothyroidism
MONDO:0020041	obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
MONDO:0020042	obsolete syndrome with 46,XY disorder of sex development
MONDO:0020045	obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect
MONDO:0020078	obsolete acute myeloid leukemia with recurrent genetic anomaly
MONDO:0020090	obsolete male infertility due to gonadal dysgenesis
MONDO:0020091	obsolete male infertility due to obstructive azoospermia
MONDO:0020098	obsolete constitutional anemia due to iron metabolism disorder
MONDO:0020101	obsolete constitutional hemolytic anemia due to membrane defect
MONDO:0020103	obsolete constitutional hemolytic anemia due to acanthocytosis
MONDO:0020105	obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
MONDO:0020106	obsolete hemolytic anemia due to a disorder of glycolytic enzymes
MONDO:0020107	obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
MONDO:0020109	obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
MONDO:0020111	obsolete constitutional megaloblastic anemia due to folate metabolism disorder
MONDO:0020137	obsolete frontotemporal degeneration with dementia
MONDO:0020142	obsolete metabolic disease with dementia
MONDO:0020217	obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
MONDO:0020230	obsolete renal disease with cataract
MONDO:0020231	obsolete cardiac disease with cataract
MONDO:0020233	obsolete dentocutaneous disease with cataract
MONDO:0020259	obsolete myopathy with eye involvement
MONDO:0020265	obsolete mitochondrial disease with eye involvement
MONDO:0020267	obsolete genetic keratinization disorder associated with ocular features
MONDO:0020270	obsolete pigmentation disorder with eye involvement
MONDO:0020273	obsolete disease with potential neoplastic degeneration associated with ocular features
MONDO:0020274	obsolete onycho-patellar syndrome with eye involvement
MONDO:0020278	obsolete metabolic disease associated with ocular features
MONDO:0020279	obsolete metabolic disease with corneal opacity
MONDO:0020282	obsolete metabolic disease with macular cherry-red spot
MONDO:0021421	obsolete carcinoid tumors, intestina
MONDO:0024348	obsolete pityriasis capitis
MONDO:0027750	obsolete serpinopathy with toxic serpin polymerization
MONDO:0027751	obsolete serpinopathy with loss of serpin function
MONDO:0033967	obsolete immune dysregulation with inflammatory bowel disease

New obsoletion candidates

Mondo ID	Label
MONDO:0006600	pigmentation disease
MONDO:0020247	congenital vitreoretinal dysplasia
MONDO:0004553	extrinsic allergic alveolitis
MONDO:0021191	malignant ependymoma
MONDO:0004771	Fuchs' heterochromic uveitis
MONDO:0005992	trichinosis
MONDO:0006147	chronic eosinophilic leukemia, not otherwise specified
MONDO:0006584	neonatal jaundice
MONDO:0020248	vitreoretinal degeneration
MONDO:0007061	acylase, cobalt-activated
MONDO:0015551	basal epidermolysis bullosa simplex
MONDO:0020218	goniodysgenesis
MONDO:0007780	hypertelorism, Teebi type
MONDO:0008042	myoclonus and ataxia
MONDO:0008345	idiopathic pulmonary fibrosis
MONDO:0019341	tuberous sclerosis complex
MONDO:0008852	congenital central hypoventilation syndrome
MONDO:0008856	immunodeficiency 27A
MONDO:0008940	endosteal sclerosis-cerebellar hypoplasia syndrome
MONDO:0008942	cerebelloparenchymal disorder II
MONDO:0009096	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
MONDO:0009316	hair defect-photosensitivity-intellectual disability syndrome
MONDO:0010113	thalidomide susceptibility
MONDO:0010783	Alzheimer disease, susceptibility to, mitochondrial
MONDO:0011111	horns in sheep
MONDO:0011319	activator of liver function 1
MONDO:0020220	corneoiridogoniodysgenesis
MONDO:0011707	familial dyskinesia and facial myokymia
MONDO:0013733	accelerated tumor formation, susceptibility to
MONDO:0014616	Skint1-like pseudogene
MONDO:0016036	Ledderhose disease
MONDO:0016626	hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
MONDO:0019511	autosomal dominant medullary cystic kidney disease with hyperuricemia
MONDO:0019774	Holmes-Gang syndrome
MONDO:0020312	atypical chronic myeloid leukemia
MONDO:0020358	coloboma of optic disc
MONDO:0020670	antithrombin deficiency type 2
MONDO:0022556	oculo-cerebral dysplasia
MONDO:0022916	cystic hygroma lethal cleft palate
MONDO:0022926	daentl towsend Siegel syndrome
MONDO:0023000	dobrow syndrome
MONDO:0032647	global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0042908	Schaap-Taylor-Baraitser syndrome
MONDO:0044354	Rosai-Dorfman disease
MONDO:0044684	tuberculous meningitis
MONDO:0056821	bronchiolitis obliterans organizing pneumonia
MONDO:0100461	gastrointestinal defects and immunodeficiency syndrome

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

No changes.