RPPR diff to 2021-09-01

[matentzn]

@nicolevasilevsky this is trying to generate the same diff between versions as we do between releases.. As a diff to 2021-09-01, does this make sense to you?

Overview:

• Number of new terms: 284
• Number of changed labels: 15
• Number of changed definitions: 10
• Number obsoleted terms: 104
• Number of new obsoletion candidates: 16
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0021690	obsolete congenital left ventricular aneurysm	OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]
MONDO:0024145	obsolete Pierre Robin syndrome associated with collagen disease
MONDO:0024147	obsolete Pierre Robin syndrome associated with a chromosomal anomaly
MONDO:0024148	obsolete Pierre Robin syndrome associated with branchial archs anomalies
MONDO:0024149	obsolete Pierre Robin syndrome associated with bone disease
MONDO:0024987	obsolete genetic urogenital tract malformation
MONDO:0026141	obsolete genetic urticaria
MONDO:0026150	obsolete genetic erythrokeratoderma
MONDO:0026151	obsolete genetic acrokeratoderma
MONDO:0026152	obsolete genetic porokeratosis
MONDO:0026157	obsolete genetic pigmentation anomaly of the skin
MONDO:0026160	obsolete genetic dermis disorder
MONDO:0026166	obsolete genetic immune deficiency with skin involvement
MONDO:0026167	obsolete genetic neuromuscular disease
MONDO:0026170	obsolete genetic central nervous system malformation
MONDO:0026173	obsolete rare genetic medullar disease
MONDO:0026180	obsolete genetic congenital limb malformation
MONDO:0026181	obsolete genetic renal or urinary tract malformation
MONDO:0026182	obsolete genetic cranial malformation
MONDO:0026183	obsolete genetic digestive tract malformation
MONDO:0026184	obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen
MONDO:0026185	obsolete genetic respiratory or mediastinal malformation
MONDO:0026186	obsolete genetic developmental defect of the eye
MONDO:0026187	obsolete genetic malformation syndrome with short stature
MONDO:0026188	obsolete genetic overgrowth/obesity syndrome
MONDO:0026189	obsolete genetic branchial arch or oral-acral syndrome
MONDO:0026190	obsolete genetic malformation syndrome with odontal and/or periodontal component
MONDO:0026192	obsolete genetic glomerular disease
MONDO:0026193	obsolete genetic thrombotic microangiopathy
MONDO:0026203	obsolete genetic respiratory malformation
MONDO:0026209	obsolete genetic polyendocrinopathy
MONDO:0026419	obsolete isolated corpus callosum agenesis	OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]
MONDO:0026989	obsolete syndrome associated with hypertrophic cardiomyopathy
MONDO:0027929	obsolete genetic polycythemia
MONDO:0028569	obsolete genetic interstitial lung disease
MONDO:0028795	obsolete rare genetic systemic or rheumatologic disease
MONDO:0028868	obsolete genetic frontotemporal degeneration with dementia
MONDO:0029014	obsolete rare systemic or rheumatological disease of childhood
MONDO:0029051	obsolete autosomal recessive nail dysplasia	OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]
MONDO:0029102	obsolete autosomal ichthyosis syndrome with other associated signs
MONDO:0029810	obsolete laminopathy with striated muscle involvement
MONDO:0029811	obsolete laminopathy with peripheral neuropathy
MONDO:0029812	obsolete laminopathy with lipodystrophy
MONDO:0029813	obsolete laminopathy with premature aging
MONDO:0030052	obsolete disease with punctate palmoplantar keratoderma as a major feature
MONDO:0030407	obsolete rare disease with Cushing syndrome as a major feature
MONDO:0030767	obsolete genetic tumor of hematopoietic and lymphoid tissues
MONDO:0031004	obsolete genetic disorder of sex development of gynecological interest
MONDO:0031016	obsolete genetic disorder of sex development
MONDO:0031689	obsolete genetic progeroid syndrome
MONDO:0031697	obsolete genetic intractable diarrhea of infancy
MONDO:0031698	obsolete genetic intestinal disease due to fat malabsorption
MONDO:0031799	obsolete rare bone disease related to a common gene or pathway defect
MONDO:0031949	obsolete genetic neurovascular malformation
MONDO:0031952	obsolete genetic syndromic esophageal malformation
MONDO:0032011	obsolete biological anomaly	OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790]
MONDO:0032013	obsolete clinical syndrome	OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved.
MONDO:0032014	obsolete particular clinical situation in a disease or syndrome	OBSOLETE. A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances.
MONDO:0032221	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
MONDO:0033056	obsolete genetic facial cleft
MONDO:0033329	obsolete genetic precocious puberty
MONDO:0033331	obsolete genetic precocious puberty in female
MONDO:0033334	obsolete genetic nose and cavum anomaly
MONDO:0033335	obsolete genetic larynx anomaly
MONDO:0033336	obsolete genetic tracheal anomaly
MONDO:0033900	obsolete rare capillary malformation with associated anomalies
MONDO:0033927	obsolete genetic complex vascular malformation with associated anomalies
MONDO:0034028	obsolete symptomatic form of hemochromatosis type 1	OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
MONDO:0034039	obsolete genetic hemoglobinopathy
MONDO:0034443	obsolete genetic non-acquired premature ovarian failure
MONDO:0034641	obsolete rare genetic hyperkinetic movement disorder
MONDO:0034663	obsolete genetic inflammatory or rheumatoid-like osteoarthropathy
MONDO:0034667	obsolete longitudinal limb defect
MONDO:0034668	obsolete terminal transverse limb defect
MONDO:0034669	non-syndromic preaxial polydactyly
MONDO:0034670	non-syndromic postaxial polydactyly
MONDO:0034671	non-syndromic complex polydactyly
MONDO:0034673	obsolete ectrodactyly with and without other manifestations
MONDO:0034676	overgrowth syndrome with 2q37 translocation	A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.
MONDO:0034678	obsolete mirror-image polydactyly	OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]
MONDO:0034733	obsolete cochlear nerve deficiency	OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]
MONDO:0034819	obsolete familial intestinal malrotation	OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.
MONDO:0034820	cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.
MONDO:0034823	oral-facial-digital syndrome with short stature and brachymesophalangy	A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
MONDO:0034872	large granular lymphocyte leukemia
MONDO:0034895	congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
MONDO:0034923	obsolete inflammatory/autoimmune disorder involving the lacrimal system
MONDO:0034926	obsolete rare disorder with entropion
MONDO:0034931	obsolete rare conjunctivitis
MONDO:0034937	obsolete syndromic ectopia lentis
MONDO:0034943	obsolete isolated vitreoretinopathy
MONDO:0034953	obsolete syndromic inherited retinal disorder
MONDO:0034954	syndromic vitreoretinopathy
MONDO:0034961	obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
MONDO:0034962	obsolete rare ophthalmic disorder with cortical involvement
MONDO:0034965	obsolete rare ophthalmic disorder with cranial nerve involvement
MONDO:0034968	obsolete rare ocular motility/alignment disorder
MONDO:0034977	obsolete isolated microspherophakia	OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.
MONDO:0034979	obsolete peripapillary staphyloma	OBSOLETE. A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]
MONDO:0034980	obsolete isolated megalopapilla	OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.
MONDO:0034981	obsolete optic disc pit	OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]
MONDO:0035001	obsolete rare disorder of the visual organs
MONDO:0035002	isolated inherited retinal disorder
MONDO:0035013	obsolete genetic primary orthostatic disorder
MONDO:0035014	primary orthostatic disorder
MONDO:0035018	frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.
MONDO:0035027	microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
MONDO:0035037	obsolete rare genetic disorder of the visual organs
MONDO:0035075	secondary early-onset glaucoma of genetic origin
MONDO:0035105	diaphragmatic hernia-short bowel-asplenia syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
MONDO:0035151	17q24.2 microdeletion syndrome	A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
MONDO:0035159	dermoid or epidermoid cyst of the central nervous system	A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.
MONDO:0035160	progressive myoclonic epilepsy with neuroserpin inclusion bodies
MONDO:0035161	progressive dementia with neuroserpin inclusion bodies
MONDO:0035162	PIK3CA-related overgrowth syndrome
MONDO:0035173	9q21.13 microdeletion syndrome	A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
MONDO:0035220	PLG-related hereditary angioedema with normal C1inh
MONDO:0035235	classic pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.
MONDO:0035236	pustular pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.
MONDO:0035237	bullous pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.
MONDO:0035238	vegetative pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.
MONDO:0035249	obsolete anomalous aortic origin of the left coronary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]
MONDO:0035250	obsolete anomalous aortic origin of the right coronary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]
MONDO:0035251	obsolete anomalous aortic origin of coronary artery	OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]
MONDO:0035252	obsolete anomalous origin of coronary artery from the pulmonary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]
MONDO:0035267	obsolete quadricuspid aortic valve	OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]
MONDO:0035274	obsolete anomaly of the coronary ostia	OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]
MONDO:0035290	atypical hemolytic uremic syndrome with complement gene abnormality
MONDO:0035293	streptococcus pneumoniae-associated hemolytic uremic syndrome
MONDO:0035295	congenital primary megaureter, refluxing and obstructed form
MONDO:0035312	fibrohistiocytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.
MONDO:0035313	lymphoplasmacytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.
MONDO:0035314	obsolete congenital tricuspid valve dysplasia	OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]
MONDO:0035320	early-onset familial hypoaldosteronism	A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.
MONDO:0035321	late-onset familial hypoaldosteronism	A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.
MONDO:0035328	obsolete rare disorder due to poisoning
MONDO:0035340	obsolete rare disorder with hirschsprung disease as a major feature
MONDO:0035383	FOXG1 syndrome	A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.
MONDO:0035400	seronegative autoimmune hepatitis	A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.
MONDO:0035401	isolated anencephaly
MONDO:0035402	isolated exencephaly
MONDO:0035403	serous cystadenoma of childhood
MONDO:0035404	mucinous cystadenoma of childhood
MONDO:0035405	seromucinous cystadenoma of childhood
MONDO:0035406	furuncular myiasis due to Dermatobia hominis
MONDO:0035407	furuncular myiasis due to Cordylobia anthropophaga
MONDO:0035408	furuncular myiasis due to Cordylobia rodhaini
MONDO:0035410	isolated congenital aglossia
MONDO:0035411	isolated congenital hypoglossia
MONDO:0035423	triglyceride deposit cardiomyovasculopathy
MONDO:0035426	obsolete rare disorder potentially indicated for transplant or complication after transplantation
MONDO:0035432	POMGNT2-related limb-girdle muscular dystrophy R24
MONDO:0035433	calpain-3-related limb-girdle muscular dystrophy D4
MONDO:0035437	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.
MONDO:0035441	congenital autosomal recessive small-platelet thrombocytopenia	A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
MONDO:0035444	acute mast cell leukemia	A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
MONDO:0035445	chronic mast cell leukemia	A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.
MONDO:0035447	liver adenomatosis	A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.
MONDO:0035448	obsolete aprosencephaly/atelencephaly spectrum	OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]
MONDO:0035449	atelencephaly
MONDO:0035450	aprosencephaly
MONDO:0035451	obsolete left sided atrial isomerism
MONDO:0035452	mueller-weiss syndrome	A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.
MONDO:0035454	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
MONDO:0035459	idiopathic multidrug-resistant nephrotic syndrome
MONDO:0035460	idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
MONDO:0035461	obsolete systemic disease with glomerulopathy as a major feature
MONDO:0035466	obsolete nephrotic syndrome without extrarenal manifestations
MONDO:0035469	obsolete primary lymphedema without systemic or visceral involvement
MONDO:0035470	obsolete primary lymphedema with systemic or visceral involvement
MONDO:0035471	obsolete disorder with multisystemic involvement and primary lymphedema
MONDO:0035472	GJC2-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
MONDO:0035473	warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.
MONDO:0035474	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.
MONDO:0035475	EPHB4-related lymphatic-related hydrops fetalis	A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
MONDO:0035499	CELSR1-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
MONDO:0035500	congenital primary lymphedema of Gordon	A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.
MONDO:0035511	ricin poisoning	A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of Ricinus communis, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.
MONDO:0035521	blepharophimosis-ptosis-epicanthus inversus syndrome plus
MONDO:0035524	blepharophimosis-ptosis-epicanthus inversus syndrome type 1
MONDO:0035525	blepharophimosis-ptosis-epicanthus inversus syndrome type 2
MONDO:0035529	infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.
MONDO:0035534	DONSON-related microcephaly-short stature-limb abnormalities spectrum	A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
MONDO:0035540	pheochromocytoma-paraganglioma	A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.
MONDO:0035541	obsolete split cord malformation type II
MONDO:0035542	obsolete split cord malformation
MONDO:0035547	predisposition to severe viral infection due to IRF7 deficiency
MONDO:0035548	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency
MONDO:0035551	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
MONDO:0035554	obsolete complete atrioventricular septal defect without ventricular hypoplasia
MONDO:0035555	obsolete partial atrioventricular septal defect with ventricular hypoplasia
MONDO:0035556	obsolete partial atrioventricular septal defect without ventricular hypoplasia
MONDO:0035557	obsolete intermediate atrioventricular septal defect
MONDO:0035561	sporadic human prion disease
MONDO:0035562	acquired human prion disease
MONDO:0035581	obsolete lethal brain and heart developmental defects	OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]
MONDO:0035584	punctate inner choroidopathy	A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.
MONDO:0035586	Cramp-fasciculation syndrome
MONDO:0035592	congenital infiltrating lipomatosis of the face
MONDO:0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
MONDO:0035614	sporadic fatal insomnia	A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.
MONDO:0035635	short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
MONDO:0035639	mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
MONDO:0035642	mixed phenotype acute leukemia with t(v;11q23.3)
MONDO:0035645	inherited gynecological cancer-predisposing syndrome
MONDO:0035646	congenital-onset Steinert myotonic dystrophy
MONDO:0035647	childhood-onset Steinert myotonic dystrophy
MONDO:0035648	juvenile-onset Steinert myotonic dystrophy
MONDO:0035649	adult-onset Steinert myotonic dystrophy
MONDO:0035650	late-onset Steinert myotonic dystrophy
MONDO:0035651	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
MONDO:0035660	GNAO1-related developmental delay-seizures-movement disorder spectrum
MONDO:0035661	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
MONDO:0035663	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
MONDO:0035664	neuromyelitis optica spectrum disorder with anti-MOG antibodies
MONDO:0035665	neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
MONDO:0035666	acute transverse myelitis with anti-MOG antibodies
MONDO:0035667	isolated optic neuritis without anti-MOG antibodies
MONDO:0035668	isolated optic neuritis with anti-MOG antibodies
MONDO:0035669	acute disseminated encephalomyelitis with anti-MOG antibodies
MONDO:0035670	acute disseminated encephalomyelitis without anti-MOG antibodies
MONDO:0035682	fibrous dysplasia/McCune-Albright syndrome
MONDO:0035683	obsolete adrenal hypoplasia congenita
MONDO:0035684	epidermolysis bullosa simplex without extracutaneous involvement
MONDO:0035685	epidermolysis bullosa simplex with extracutaneous involvement
MONDO:0035689	syndrome of reduced sensitivity to thyroid hormone
MONDO:0035694	combined immunodeficiency due to RELA haploinsufficiency
MONDO:0035696	incomplete septal cirrhosis	A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.
MONDO:0035706	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
MONDO:0035707	blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
MONDO:0035713	FOXG1 syndrome due to intragenic alteration
MONDO:0035734	hereditary angioedema with normal C1inh not related to F12 or PLG variant
MONDO:0035735	acquired hemophilia A	An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.
MONDO:0035736	acquired hemophilia B
MONDO:0035737	acquired factor V deficiency
MONDO:0035738	acquired factor VII deficiency
MONDO:0035740	acquired factor XI deficiency
MONDO:0035742	factor V short isoforms-related bleeding disorder
MONDO:0035743	factor V amsterdam bleeding disorder
MONDO:0035759	factor V atlanta bleeding disorder
MONDO:0035774	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.
MONDO:0035775	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
MONDO:0035776	combined deficiency of factor VII and factor X
MONDO:0035780	obsolete non-syndromic anorectal malformation with perineal fistula
MONDO:0035781	obsolete non-syndromic anorectal malformation with rectourethral fistula
MONDO:0035782	non-syndromic anorectal malformation with rectourethral fistula, bulbar type
MONDO:0035783	non-syndromic anorectal malformation with rectourethral fistula, prostatic type
MONDO:0035784	obsolete non-syndromic anorectal malformation with rectovesical fistula
MONDO:0035785	obsolete non-syndromic anorectal malformation with vestibular fistula
MONDO:0035786	obsolete non-syndromic cloacal malformation
MONDO:0035787	obsolete non-syndromic anorectal malformation without fistula
MONDO:0035788	obsolete non-syndromic anorectal malformation with anal stenosis
MONDO:0035789	obsolete non-syndromic anorectal malformation with pouch colon
MONDO:0035790	obsolete non-syndromic anorectal malformation with rectal atresia
MONDO:0035791	obsolete non-syndromic anorectal malformation with rectal stenosis
MONDO:0035792	obsolete non-syndromic anorectal malformation with rectovaginal fistula
MONDO:0035793	obsolete non-syndromic anorectal malformation with h-type fistula
MONDO:0035819	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
MONDO:0035823	KLHL7-related Bohring-Opitz-like syndrome
MONDO:0035824	KLHL7-related cold-induced sweating-like syndrome
MONDO:0035826	symptomatic form of x-linked centronuclear myopathy in female carriers
MONDO:0035862	obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
MONDO:0035863	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
MONDO:0035879	granuloma faciale
MONDO:0035882	chronic intervillositis of unknown etiology
MONDO:0037716	obsolete rare genetic deafness
MONDO:0037860	obsolete rare systemic or rheumatologic disease
MONDO:0038261	obsolete genetic neurological channelopathy of the central nervous system
MONDO:0038268	autoimmune neurological channelopathy
MONDO:0100487	TPM4-related platelet disorder	A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.
MONDO:0100488	CDH1-related diffuse gastric and lobular breast cancer	Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.
MONDO:0100489	Graves disease, susceptibility to, 1
MONDO:0100490	breasts and/or nipples, aplasia or hypoplasia of, 1
MONDO:0100491	generalized pustular psoriasis	A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.
MONDO:0700043	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
MONDO:0700051	liver abscess (disease)	An abscess that involves the liver.
MONDO:0700052	intersphincteric abscess	An abscess contained between the internal and external anal sphincters.
MONDO:8000023	type 3 autoimmune lymphoproliferative syndrome	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
MONDO:8000024	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
MONDO:8000030	obsolete morphological anomaly
MONDO:8000031	obsolete subtype of a disorder
MONDO:8000032	obsolete malformation syndrome
MONDO:8000033	obsolete group of disorders
MONDO:8000034	obsolete disorder

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0003778	inborn errors of immunity	primary immunodeficiency disease	inborn errors of immunity
MONDO:0005493	carbon monoxide-induced delayed encephalopathy	delayed encephalopathy after acute carbon monoxide poisoning	carbon monoxide-induced delayed encephalopathy
MONDO:0008791	anencephaly 1	isolated anencephaly/exencephaly	anencephaly 1
MONDO:0010454	intellectual disability, X-linked 88	intellectual disability, XMEN-linked 88	intellectual disability, X-linked 88
MONDO:0013612	geleophysic dysplasia 2	Geleophysic dysplasia 2	geleophysic dysplasia 2
MONDO:0014320	Bosch-Boonstra-Schaaf optic atrophy syndrome	optic atrophy-intellectual disability syndrome	Bosch-Boonstra-Schaaf optic atrophy syndrome
MONDO:0018983	Tolosa-Hunt syndrome	tolosa-Hunt syndrome	Tolosa-Hunt syndrome
MONDO:0019444	trichinellosis	Trichinellosis	trichinellosis
MONDO:0019528	inflammatory pseudotumor of the liver	IgG4-related hepatopathy	inflammatory pseudotumor of the liver
MONDO:0020745	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	autosomal dominant cardiac arrhythmia (Kuhn)	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
MONDO:0022557	Behrens Baumann dust syndrome	behrens baumann dust syndrome	Behrens Baumann dust syndrome
MONDO:0023134	febrile ulceronecrotic Mucha-Habermann disease	febrile ulceronecrotic mucha-habermann disease	febrile ulceronecrotic Mucha-Habermann disease
MONDO:0024559	aortic aneurysm, familial thoracic 1	AAT1	aortic aneurysm, familial thoracic 1
MONDO:0043195	Rubinstein Taybi like syndrome	rubinstein taybi like syndrome	Rubinstein Taybi like syndrome
MONDO:0700130	partial trisomy 21	partial Trisomy 21	partial trisomy 21

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0006086	angiomyxoma	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma.	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.
MONDO:0011078	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis		A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
MONDO:0014556	congenital contractures of the limbs and face, hypotonia, and developmental delay		A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
MONDO:0700085	pentasomy	A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.	A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.
MONDO:0016086	osteochondritis of tarsal/metatarsal bone	Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone	A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.
MONDO:0017388	celiac trunk compression syndrome		A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
MONDO:0018919	McCune-Albright syndrome	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP).	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).
MONDO:0030502	tetrasomy	A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.	A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.
MONDO:0020368	Axenfeld anomaly	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies.	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
MONDO:0060490	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.

Obsolete terms

Mondo ID	Label
MONDO:0000651	obsolete thoracic disorder
MONDO:0004553	obsolete extrinsic allergic alveolitis
MONDO:0004771	obsolete Fuchs' heterochromic uveitis
MONDO:0005992	obsolete trichinosis
MONDO:0006147	obsolete chronic eosinophilic leukemia, not otherwise specified
MONDO:0006588	obsolete nonepidermolytic palmoplantar keratoderma
MONDO:0007061	obsolete acylase, cobalt-activated
MONDO:0007139	obsolete Antipyrine metabolism
MONDO:0007141	obsolete antiviral state repressor, regulator of
MONDO:0007317	obsolete chlorpropamide-alcohol flushing
MONDO:0007331	obsolete cleft chin
MONDO:0007532	obsolete Electroencephalographic peculiarity: occipital slow beta waves
MONDO:0007591	obsolete facial hypertrichosis
MONDO:0007622	obsolete flood factor deficiency
MONDO:0007645	obsolete gastric sneezing
MONDO:0020218	obsolete goniodysgenesis
MONDO:0007692	obsolete hairy ears
MONDO:0007822	obsolete incisors, long upper central
MONDO:0007823	obsolete insulin receptors, familial increase 1N
MONDO:0008042	obsolete myoclonus and ataxia
MONDO:0008068	obsolete navicular bone, accessory
MONDO:0008110	obsolete ocular dominance
MONDO:0008326	obsolete pseudocholinesterase, increase in plasma level of
MONDO:0008351	obsolete pupil, egg-shaped
MONDO:0008405	obsolete scapula, contour of vertebral border of
MONDO:0008432	obsolete ketone compounds, ability to smell
MONDO:0008548	obsolete theophylline Biotransformation
MONDO:0019341	obsolete tuberous sclerosis complex
MONDO:0008616	obsolete twinning due to superfetation
MONDO:0008625	obsolete urate-binding globulin, decrease 1N
MONDO:0008677	obsolete widow's peak
MONDO:0008942	obsolete cerebelloparenchymal disorder II
MONDO:0009125	obsolete dopamine beta-hydroxylase, plasma, thermolability of
MONDO:0009250	obsolete fructose utilization
MONDO:0009316	obsolete hair defect-photosensitivity-intellectual disability syndrome
MONDO:0009553	obsolete Plasmodium falciparum blood infection level
MONDO:0009829	obsolete pallidal degeneration, progressive, with retinitis pigmentosa
MONDO:0009930	obsolete pulmonary arteriovenous malformation
MONDO:0010113	obsolete thalidomide susceptibility
MONDO:0010705	obsolete ouabain resistance
MONDO:0010783	obsolete Alzheimer disease, susceptibility to, mitochondrial
MONDO:0010994	obsolete micromelic dwarfism, Fryns type
MONDO:0011111	obsolete horns in sheep
MONDO:0011319	obsolete activator of liver function 1
MONDO:0020220	obsolete corneoiridogoniodysgenesis
MONDO:0011554	obsolete deafness, nonsyndromic, modifier 1
MONDO:0011692	obsolete basal ganglia calcification, idiopathic, 2
MONDO:0013538	obsolete alpha-2-macroglobulin deficiency
MONDO:0013586	obsolete Chitotriosidase deficiency
MONDO:0013733	obsolete accelerated tumor formation, susceptibility to
MONDO:0013799	obsolete efavirenz, poor metabolism of
MONDO:0014053	obsolete stomatin-like protein-2, hyperphosphorylation of
MONDO:0014253	obsolete autoimmune lymphoproliferative syndrome type 3
MONDO:0014616	obsolete Skint1-like pseudogene
MONDO:0014826	obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency
MONDO:0015153	obsolete autosomal monosomy
MONDO:0015551	obsolete basal epidermolysis bullosa simplex
MONDO:0016626	obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
MONDO:0016946	obsolete partial trisomy of the short arm of chromosome 9
MONDO:0016962	obsolete partial duplication of the long arm of chromosome 11
MONDO:0016963	obsolete partial duplication of the long arm of chromosome 13
MONDO:0016998	obsolete complex chromosomal rearrangement
MONDO:0016999	obsolete X chromosome number anomaly
MONDO:0017002	obsolete polysomy of X chromosome
MONDO:0017005	obsolete Y chromosome number anomaly
MONDO:0017006	obsolete X and Y chromosomal anomaly
MONDO:0017011	obsolete uniparental disomy of chromosome X
MONDO:0017412	obsolete 2q31.1 microduplication syndrome
MONDO:0018186	obsolete ring chromosome
MONDO:0019511	obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia
MONDO:0019683	obsolete syndactyly type 2
MONDO:0019774	obsolete Holmes-Gang syndrome
MONDO:0020050	obsolete autosomal trisomy
MONDO:0020053	obsolete total autosomal monosomy
MONDO:0020054	obsolete partial autosomal monosomy
MONDO:0020055	obsolete autosomal uniparental disomy
MONDO:0020056	obsolete uniparental disomy of maternal origin
MONDO:0020057	obsolete uniparental disomy of paternal origin
MONDO:0020059	obsolete gonosome number anomaly
MONDO:0020060	obsolete gonosome structural anomaly
MONDO:0020061	obsolete chromosome Y structural anomaly
MONDO:0020062	obsolete chromosome X structural anomaly
MONDO:0020358	obsolete coloboma of optic disc
MONDO:0020670	obsolete antithrombin deficiency type 2
MONDO:0020734	obsolete erythrocyte AMP deaminase deficiency
MONDO:0021059	obsolete head or neck disorder/disorder
MONDO:0022109	obsolete catatrichy
MONDO:0022556	obsolete oculo-cerebral dysplasia
MONDO:0022794	obsolete chromosome 8 deletion
MONDO:0022916	obsolete cystic hygroma lethal cleft palate
MONDO:0022926	obsolete daentl towsend Siegel syndrome
MONDO:0026768	obsolete warfarin sensitivity, X-linked
MONDO:0030032	obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb
MONDO:0032647	obsolete global developmental delay, lung cysts, overgrowth, and wilms tumor
MONDO:0033552	obsolete blood group, lewis system
MONDO:0042908	obsolete Schaap-Taylor-Baraitser syndrome
MONDO:0044354	obsolete Rosai-Dorfman disease
MONDO:0044684	obsolete tuberculous meningitis
MONDO:0044965	obsolete abdominal and pelvic region disorder
MONDO:0044967	obsolete limb disorder
MONDO:0044978	obsolete disease of cell nucleus
MONDO:0044988	obsolete hip region disorder
MONDO:0056821	obsolete bronchiolitis obliterans organizing pneumonia
MONDO:0060593	obsolete actn3 deficiency

New obsoletion candidates

Mondo ID	Label
MONDO:0020591	disorder of peritoneum
MONDO:0003804	blood protein disease
MONDO:0005042	head disorder
MONDO:0044990	hand disorder
MONDO:0044989	foot disorder
MONDO:0043707	mediastinal disorder
MONDO:0004955	metabolic syndrome
MONDO:0015879	non-syndromic diaphragmatic or thoracic malformation
MONDO:0015880	syndromic diaphragmatic or thoracic malformation
MONDO:0021016	channelopathy
MONDO:0019664	short rib-polydactyly syndrome, Verma-Naumoff type
MONDO:0014129	autosomal recessive limb-girdle muscular dystrophy type 2R
MONDO:0020051	total autosomal trisomy
MONDO:0020052	partial autosomal trisomy/tetrasomy
MONDO:0018138	ocular albinism with congenital sensorineural hearing loss
MONDO:0020595	disorder of retroperitoneum

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

Mondo ID	Label
MONDO:0008791	anencephaly 1

[nicolevasilevsky]

Yeah, I think this sounds about right

[matentzn]

Ok hope this is enough for RPPR then?

[nicolevasilevsky]

I'll say yes!

[nicolevasilevsky]

actually, there are a few more things on the RPPR doc, should we add those stats too?
https://docs.google.com/document/d/1qiHvDBCTe5HX0nYm4-Zt1l3qdIY_-ikD1gm4kjzmcB8/edit

I don't know if is required that we add all this though....

[baozizsx]

这是来自QQ邮箱的假期自动回复邮件。你好，我最近正在休假中，无法亲自回复你的邮件。我将在假期结束后，尽快给你回复。

[ma7dev]

For some weird reason, I got a notification that I was mentioned here although I don't see it anywhere.

This happened to me yesterday for another discussion. I wonder if there is a bot that mentions a lot of random people and deletes the comment.

[nicolevasilevsky]

It is spam. Looks like a lot of the comments have been deleted. I reported one above.

[ma7dev]

I think @baozizsx is one of the victims because its translation is the following:

This is a vacation auto-reply email from QQ mailbox. 
Hi, I am currently on vacation and cannot reply to your emails personally. 
I will get back to you as soon as possible after the holiday.

[nicolevasilevsky]

oh, my bad! thanks for that info.

[ShockedCoder]

Who ghost-pinged me?