v2022-09-06

Overview:

• Number of new terms: 19
• Number of changed labels: 15
• Number of changed definitions: 70
• Number obsoleted terms: 42
• Number of new obsoletion candidates: 5
• Number of terms who were previously candidate for obsoletion and are now not anymore: 43

New terms

Mondo ID	Label	Definition
MONDO:0100434	chronic mountain sickness	A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.
MONDO:0100440	Asperger syndrome, susceptibility to	An inherited susceptibility or predisposition to developing Asperger sydrome.
MONDO:0100473	disorder of peptide and amine metabolism	An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.
MONDO:0100477	disorder of methylamine metabolism	An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.
MONDO:0100509	IFT140-related recessive ciliopathy	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
MONDO:0100510	spondyloepimetaphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
MONDO:0100514	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.
MONDO:0100515	mirror movements 1 and/or agenesis of the corpus callosum	A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).
MONDO:0100516	complex neurodevelopmental disorder with motor features	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.
MONDO:0800107	anterior deviation infundibular septum
MONDO:0800108	cleft leaflet of tricuspid valve
MONDO:0800152	disorder of galactose and fructose metabolism	An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.
MONDO:0800153	urea cycle disorder or inherited hyperammonemia	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle and/or there is an inherited increased concentration of ammonia in the blood.
MONDO:0800154	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.
MONDO:0800155	inborn disorder of glycine and serine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.
MONDO:0800156	inborn disorder of ornithine, proline and hydroxyproline metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.
MONDO:0800157	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.
MONDO:0800158	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.
MONDO:0800159	disorder of polyamine metabolism	An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0004736	inborn disorder of amino acid metabolism	inherited amino acid metabolic disorder	inborn disorder of amino acid metabolism
MONDO:0000688	inborn organic aciduria	inherited organic acidemia	inborn organic aciduria
MONDO:0002412	disorder of glycogen metabolism	glycogen storage disease	disorder of glycogen metabolism
MONDO:0019216	inborn disorder of amino acid transport	inborn disorder of amino acid absorption and transport	inborn disorder of amino acid transport
MONDO:0017706	disorder of carbohydrate transmembrane transport and absorption	disorder of carbohydrate absorption and transport	disorder of carbohydrate transmembrane transport and absorption
MONDO:0019225	disorder of gluconeogenesis	gluconeogenesis disorder	disorder of gluconeogenesis
MONDO:0010078	spondyloperipheral dysplasia	spondyloperipheral dysplasia-short ulna syndrome	spondyloperipheral dysplasia
MONDO:0010888	adenomyosis	endometriosis of uterus	adenomyosis
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0014502	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016454	Charcot-Marie-Tooth disease type 2B5	severe early-onset axonal neuropathy due to NEFL deficiency	Charcot-Marie-Tooth disease type 2B5
MONDO:0019235	inborn disorder of phenylalanine and tyrosine metabolism	inborn disorder of phenylalanin or tyrosine metabolism	inborn disorder of phenylalanine and tyrosine metabolism
MONDO:0019223	disorder of fatty acid and ketone body metabolism	inborn disorder of fatty acid oxidation and ketone body metabolism	disorder of fatty acid and ketone body metabolism
MONDO:0017900	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000155	triglyceride storage disease	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.
MONDO:0019226	glucose transport disorder	An acquired metabolic disease that is has its basis in the disruption of glucose transport.	An inherited metabolic disease that is has its basis in the disruption of glucose transport.
MONDO:0000273	Kunjin virus infectous disease		A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.
MONDO:0000351	disorder of methionine catabolism	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.	An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
MONDO:0037938	inborn disorder of aspartate family metabolism	An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.
MONDO:0000421	inborn serine deficiency	An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.
MONDO:0019239	inborn disorder of serine family metabolism	An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.
MONDO:0005528	inborn vitamin metabolic disorder	An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process.	An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.
MONDO:0019243	inborn disorder of energy metabolism	An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.	An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
MONDO:0019224	inborn disorder of gamma-aminobutyric acid metabolism	An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.
MONDO:0045046	inherited thyroid metabolism disease	An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.	An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.
MONDO:0019214	inborn carbohydrate metabolic disorder	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.	An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.
MONDO:0019236	inborn disorder of purine metabolism	An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.	An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
MONDO:0016789	pyruvate metabolism disorder	An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process.	An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
MONDO:0017762	disorder of copper metabolism	An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.	An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.
MONDO:0007481	Leri-Weill dyschondrosteosis	LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.	Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
MONDO:0007646	Gamstorp-Wohlfart syndrome	Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.	A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
MONDO:0007921	yellow nail syndrome	Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.	A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.
MONDO:0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.
MONDO:0008471	spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.	A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
MONDO:0008476	spondyloepimetaphyseal dysplasia, Strudwick type	Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).	A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
MONDO:0016790	tricarboxylic acid cycle disorder	An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.	An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.
MONDO:0019229	inborn disorder of ketolysis	An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process.	An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.
MONDO:0008858	Behr syndrome	Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.	A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
MONDO:0019240	sterol biosynthesis disorder	An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.
MONDO:0009196	ermine phenotype	Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.	A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
MONDO:0019225	disorder of gluconeogenesis	An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis.	An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.
MONDO:0040566	inherited glutathione metabolism disease	An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process.	An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.
MONDO:0017687	disorder of neutral amino acid transport	An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport.	An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.
MONDO:0019228	inborn disorder of histidine metabolism	An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process.	An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.
MONDO:0019242	inborn disorder of branched-chain amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.	An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
MONDO:0017350	inborn disorder of tryptophan metabolism	An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process.	An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.
MONDO:0009393	ornithine translocase deficiency	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.	A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
MONDO:0018424	inherited lipoic acid biosynthesis defect	An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.
MONDO:0009579	Frank-Ter Haar syndrome	Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
MONDO:0017356	inborn disorder of ornithine metabolism	An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process.	An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.
MONDO:0019237	inborn disorder of pyridoxine metabolism	An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.	An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.
MONDO:0010076	spondyloepimetaphyseal dysplasia, Irapa type	Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
MONDO:0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
MONDO:0010078	spondyloperipheral dysplasia	An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.	A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.
MONDO:0017686	inborn aminoacylase deficiency	An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity.	An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.
MONDO:0010613	inborn glycerol kinase deficiency	An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.	An inherited metabolic disease that is has its basis in the disruption of glycerol kinase activity.
MONDO:0019227	inborn disorder of glycerol metabolism	An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process.	An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process.
MONDO:0019256	sterol metabolism disorder	An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process.	An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.
MONDO:0020704	inherited rippling muscle disease	Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.	A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
MONDO:0011124	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
MONDO:0011198	spondyloepimetaphyseal dysplasia, Missouri type	Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.	A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
MONDO:0011252	spondyloepimetaphyseal dysplasia, Shohat type	Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.	A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
MONDO:0011262	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
MONDO:0012108	spondyloepimetaphyseal dysplasia, matrilin-3 type	Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
MONDO:0012495	spondyloepimetaphyseal dysplasia, Genevieve type	Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
MONDO:0012503	thiopurine S-methyltransferase deficiency	An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.	An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
MONDO:0012982	episodic ataxia type 6	Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
MONDO:0013014	spondyloepimetaphyseal dysplasia, aggrecan type	Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.	A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
MONDO:0013233	spondyloepimetaphyseal dysplasia, Handigodu type	Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.	A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.
MONDO:0017754	inborn disorder of porphyrin metabolism	An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.	An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.
MONDO:0016454	Charcot-Marie-Tooth disease type 2B5	Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
MONDO:0016554	neonatal iodine exposure	Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.	A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.
MONDO:0018791	Moyomoya angiopathy		A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels.
MONDO:0017355	inborn disorder of proline metabolism	An acquired metabolic disease that is has its basis in the disruption of proline metabolic process.	An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.
MONDO:0017765	disorder of magnesium transport	An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport.	An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.
MONDO:0018121	mitochondrial DNA maintenance syndrome	An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.	An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.
MONDO:0018146	idiopathic macular telangiectasia type 1	Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
MONDO:0018147	idiopathic macular telangiectasia type 3	Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
MONDO:0018786	pontine autosomal dominant microangiopathy with leukoencephalopathy		A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.
MONDO:0019549	severe early-onset axonal neuropathy due to MFN2 deficiency	Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
MONDO:0019550	hereditary motor and sensory neuropathy with acrodystrophy	Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
MONDO:0019666	spondyloepimetaphyseal dysplasia, PAPSS2 type	Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.	A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
MONDO:0021130	disorder of sphingolipid biosynthesis	An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.	An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.

Obsolete terms

Mondo ID	Label
MONDO:0000218	obsolete preimplantation embryonic lethality
MONDO:0000601	obsolete autoimmune disorder of urogenital tract
MONDO:0024255	obsolete genetic skin disease
MONDO:0003998	obsolete vaginal tubular adenoma
MONDO:0004978	obsolete aortic stenosis
MONDO:0005410	obsolete acute graft vs. host disease
MONDO:0006657	obsolete apparent mineralocorticoid excess syndrome
MONDO:0019285	obsolete syndromic nail anomaly
MONDO:0019721	obsolete syndromic renal or urinary tract malformation
MONDO:0019117	obsolete genetic nervous system disorder
MONDO:0020208	obsolete syndromic myopia
MONDO:0015163	obsolete primary glomerular disease
MONDO:0008085	obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
MONDO:0008370	obsolete reticular dystrophy of retinal pigment epithelium
MONDO:0015953	obsolete genetic central nervous system and retinal vascular disease
MONDO:0020676	obsolete disorder of central nervous system or retinal vasculature
MONDO:0019589	obsolete syndromic genetic hearing loss
MONDO:0019833	obsolete pituitary hormone deficiency from tumoral origin
MONDO:0043007	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
MONDO:0009827	obsolete pachyonychia congenita, autosomal recessive
MONDO:0019282	obsolete syndromic hair shaft abnormality
MONDO:0019058	obsolete neurometabolic disease
MONDO:0014783	obsolete preimplantation embryonic lethality 1
MONDO:0018609	obsolete syndromic hereditary optic neuropathy
MONDO:0014978	obsolete preimplantation embryonic lethality 2
MONDO:0043008	obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
MONDO:0016110	obsolete non-dystrophic myopathy
MONDO:0017143	obsolete genetic infertility
MONDO:0018787	obsolete genetic cerebral small vessel disease
MONDO:0019843	obsolete pituitary hormone deficiency secondary to a granulomatous disease
MONDO:0019601	obsolete autosomal recessive axonal hereditary motor and sensory neuropathy
MONDO:0019834	obsolete pituitary hormone deficiency from meningeal origin
MONDO:0019841	obsolete pituitary hormone defiency from vascular origin
MONDO:0020225	obsolete syndromic cataract
MONDO:0020503	obsolete resistance to thyrotropin-releasing hormone syndrome
MONDO:0021027	obsolete genetic hair anomaly
MONDO:0021028	obsolete genetic nail anomaly
MONDO:0022018	obsolete Borrone di Rocco Crovato syndrome
MONDO:0022620	obsolete CD4 deficiency
MONDO:0022880	obsolete corticobasal degeneration
MONDO:0043005	obsolete genetic multiple congenital anomalies/dysmorphic syndrome
MONDO:0044331	obsolete genetic transient congenital hypothyroidism

New obsoletion candidates

Mondo ID	Label
MONDO:0006051	postweaning multisystemic wasting syndrome
MONDO:0009579	Frank-Ter Haar syndrome
MONDO:0025155	hemorrhagic syndrome, bovine
MONDO:0034104	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
MONDO:0100282	SC phocomelia syndrome

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

Mondo ID	Label
MONDO:0016156	qualitative or quantitative defects of FKRP
MONDO:0016184	qualitative or quantitative defects of protein O-mannosyltransferase 1
MONDO:0016185	qualitative or quantitative defects of protein O-mannosyltransferase 2
MONDO:0042981	aortic valve stenosis
MONDO:0016195	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
MONDO:0016187	qualitative or quantitative defects of desmin
MONDO:0016151	qualitative or quantitative defects of perlecan
MONDO:0016198	qualitative or quantitative defects of plectin
MONDO:0016152	qualitative or quantitative defects of calpain
MONDO:0016145	qualitative or quantitative defects of dysferlin
MONDO:0016143	qualitative or quantitative defects of gamma-sarcoglycan
MONDO:0016153	qualitative or quantitative defects of TRIM32
MONDO:0016193	qualitative or quantitative defects of alpha-actin
MONDO:0016197	qualitative or quantitative defects of selenoprotein N1
MONDO:0017303	qualitative or quantitative defects of tropomyosin
MONDO:0016147	qualitative or quantitative defects of dystrophin
MONDO:0016196	qualitative or quantitative defects of emerin
MONDO:0016154	qualitative or quantitative defects of myotubularin
MONDO:0016199	qualitative or quantitative defects of protein SERCA1
MONDO:0016144	qualitative or quantitative defects of delta-sarcoglycan
MONDO:0016192	qualitative or quantitative defects of telethonin
MONDO:0016191	qualitative or quantitative defects of titin
MONDO:0016142	qualitative or quantitative defects of beta-sarcoglycan
MONDO:0017302	qualitative or quantitative defects of troponin
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MONDO:0016141	qualitative or quantitative defects of alpha-sarcoglycan
MONDO:0016201	qualitative or quantitative defects of myotilin
MONDO:0016190	qualitative or quantitative defects of protein ZASP
MONDO:0016189	qualitative or quantitative defects of filamin C
MONDO:0016150	qualitative or quantitative defects of integrin alpha-7
MONDO:0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
MONDO:0018529	qualitative or quantitative defects of Torsin-1A-interacting protein 1
MONDO:0016194	qualitative or quantitative defects of nebulin
MONDO:0016139	qualitative or quantitative protein defects in neuromuscular diseases
MONDO:0016140	sarcoglycanopathy
MONDO:0016149	qualitative or quantitative defects of merosin
MONDO:0018282	qualitative or quantitative defects of alpha-dystroglycan
MONDO:0016157	qualitative or quantitative defects of fukutin
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
MONDO:0016183	qualitative or quantitative defects of protein glycosyltransferase-like
MONDO:0016186	qualitative or quantitative defects of myofibrillar proteins
MONDO:0016188	qualitative or quantitative defects of alphaB-cristallin
MONDO:0018283	primary qualitative or quantitative defects of alpha-dystroglycan