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Published September 6, 2022 | Version v2022-09-06
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monarch-initiative/mondo: v2022-09-06

Creators

  • 1. Lawrence Berkeley National Laboratory
  • 2. semanticly Ltd
  • 3. @TB-Modeling
  • 4. @actions
  • 5. Critical Path Institute
  • 6. @related-sciences
  • 7. SIB Swiss Institute of Bioinformatics
  • 8. @RENCI
  • 9. Columbia University
  • 10. Harvard Medical School
  • 11. tislab.org
  • 12. TISLab, CU
  • 13. University of Colorado

Description

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

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