tooth erosion, non-bacterial

description: Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)


name: microcephaly 16, primary, autosomal recessive

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


myofibrillar myopathy 7

description: Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.


LADD syndrome

description: A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.


Dias-Logan syndrome

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.


name: synovial chondromatosis, great horned owl

description: Synovial chondromatosis that occurs in great horned owl.


megacystis-megaureter syndrome

description: Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.


skeletal muscle cancer

description: A malignant neoplasm arising from skeletal muscle.


renal-hepatic-pancreatic dysplasia

description: A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.


trisomy 20p

description: Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.


osteochondritis dissecans, snow leopard

description: Osteochondritis dissecans that occurs in snow leopard.


hemophagocytic syndrome

description: Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).


name: Carney complex - trismus - pseudocamptodactyly syndrome

description: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


name: polydactyly of a biphalangeal thumb, unilateral


colchicine poisoning

description: A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.


name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


retinitis pigmentosa 49

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.


Waardenburg syndrome type 2E

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.


autoimmune epilepsy

description: An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


trachoma

description: A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.


name: developmental and epileptic encephalopathy, 25

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


Siberian tick typhus

description: A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.


Niemann-Pick disease type C

description: NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.


cerebral gigantism-jaw cysts syndrome

description: Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.


feline mammary carcinoma

description: Mammary carcinoma occurring in a cat.


name: retinitis pigmentosa and erythrocytic microcytosis


spinocerebellar ataxia type 18

description: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.


name: developmental and epileptic encephalopathy, 33

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


CACNA1F-related retinopathy

description: Any retinopathy caused by a variant in the CACNA1F gene.


name: spinocerebellar degeneration with slow eye movements


name: alopecia congenita keratosis palmoplantaris


name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete


frontonasal dysplasia

description: A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.


name: supravalvular aortic stenosis, non-human animal

description: Supravalvular aortic stenosis that occurs in non-human animals.


coenzyme Q10 deficiency, primary, 1

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


autosomal recessive osteopetrosis

description: An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.


perinatal disease

description: A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.


adrenal rest tumor

description: A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.


name: congenital absence of both lower leg and foot, unilateral


Perrault syndrome 5

description: Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.


Caffey disease

description: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.


cutaneous diphtheria

description: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.


ABeta amyloidosis, Iowa type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


name: epileptic encephalopathy, infantile or early childhood


cherubism

description: Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


uterine corpus myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


Tel Hashomer camptodactyly syndrome

description: Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


dysraphic spinal cord lipoma

description: A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.


name: Charcot-Marie-Tooth disease, axonal, type 2FF


auriculocondylar syndrome

description: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


ST2 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


uterine corpus neuroendocrine neoplasm

description: An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


name: Turner syndrome due to structural X chromosome anomalies


name: genital herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the genitals.


cataract 15 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.


name: congenital muscular dystrophy due to integrin alpha-7 deficiency

description: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.


ichthyosis vulgaris

description: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


Martinez Monasterio Pinheiro syndrome

description: A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: peroxisome biogenesis disorder due to PEX19 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


name: microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies


name: GNAO1-related developmental delay-seizures-movement disorder spectrum


name: neuronopathy, distal hereditary motor, type 9


name: pure or complex hereditary spastic paraplegia


odontogenic cyst

description: A cyst in the jaw that arises from tissues of tooth development.


name: Charcot-Marie-Tooth disease axonal type 2C

description: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


name: arterial calcification, generalized, of infancy, 1

description: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.


name: cerebroretinal microangiopathy with calcifications and cysts 3


urinary system disorder

description: A disease involving the renal system.


aniridia-absent patella syndrome

description: Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.


nemaline myopathy 9

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


glandular tularemia

description: A tularemia that involves the lymph node.


retinitis pigmentosa 7

description: A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.


intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


name: autosomal recessive nonsyndromic hearing loss 77

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.


eye degenerative disorder

description: A neurodegenerative disease that involves the eye.


name: benign female reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


name: X-linked intellectual disability, Porteous type


Camurati-Engelmann disease, type 2

description: Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.


prostate rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.


clitoris cancer

description: A malignant neoplasm that affects the clitoris.


benign tumor of palpebral epidermis

description: A benign neoplasm that involves the skin of eyelid.


name: cystic fibrosis-gastritis-megaloblastic anemia syndrome

description: A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.


anthrax infection

description: An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.


lymphatic malformation 3

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.


neurally mediated hypotension

description: Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal


cataract 7

description: A cataract that has material basis in variation in the region 17q24.


name: autosomal recessive limb-girdle muscular dystrophy type 2P

description: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.


name: epidermolysis bullosa simplex 7, with nephropathy and deafness


gangliosidosis, pig

description: Gangliosidosis that occurs in pig.


name: autosomal recessive nonsyndromic hearing loss 74

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.


cataract 23

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


aortic aneurysm, familial thoracic 8

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


mucopolysaccharidosis type 1

description: The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).


name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


name: ankylosing spondylitis, non-human animal

description: Ankylosing spondylitis that occurs in non-human animals.


clitoris neoplasm

description: A neoplasm involving a clitoris.


deafness-vitiligo-achalasia syndrome

description: Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.


primary progressive multiple sclerosis

description: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.


dilated cardiomyopathy, dog

description: Dilated cardiomyopathy that occurs in dog.


Wiskott-Aldrich syndrome

description: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.


name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


spinocerebellar ataxia type 26

description: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


nephritis, dog

description: Nephritis that occurs in dog.


photokeratitis

description: Injury to the cornea secondary to ultraviolet light.


pervasive developmental disorder

description: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


name: autosomal recessive spastic paraplegia type 78

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


night blindness, cattle

description: Night blindness that occurs in cattle.


name: severe dermatitis-multiple allergies-metabolic wasting syndrome


name: adult-onset progressive leukoencephalopathy-early-onset deafness

description: A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.


hamartoma of skin appendage

description: A hamartoma (disease) that involves the cutaneous appendage.


multiple endocrine neoplasia

description: Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.


inherited rippling muscle disease

description: 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.


name: craniofacial anomalies and anterior segment dysgenesis syndrome


name: autoinflammatory syndrome, familial, Behcet-like


name: cerebral amyloid angiopathy, non-human animal

description: Cerebral amyloid angiopathy that occurs in non-human animals.


2p21 microdeletion syndrome

description: The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.


name: musculoskeletal system disorder, non-human animal

description: Musculoskeletal system disorder that occurs in non-human animals.


name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


chronic monocytic leukemia, dog

description: Chronic monocytic leukemia that occurs in dog.


galactosialidosis, non-human animal

description: Galactosialidosis that occurs in non-human animals.


primary erythermalgia

description: Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.


Schmid metaphyseal chondrodysplasia

description: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.


delayed membranous cranial ossification

description: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.


epilepsy, familial adult myoclonic, 5

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


epilepsy, domestic cat

description: Epilepsy that occurs in domestic cat.


name: autosomal dominant nonsyndromic hearing loss 27

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

description: Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

description: A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.


name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


name: uterine corpus epithelioid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


name: neuropathy, hereditary sensory, atypical

description: A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.


cataract 8 multiple types

description: A cataract that has material basis in variation in the region 1pter-p36.13.


name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

description: A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.


subacute leukemia

description: A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.


name: myopathy, congenital, with fiber-type disproportion, X-linked


name: progeria-short stature-pigmented nevi syndrome

description: Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.


name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

description: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.


description: Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.


description: 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome

description: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


name: short stature and Facioauriculothoracic malformations


name: qualitative or quantitative defects of tropomyosin


Bardet-Biedl syndrome 8

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


hemophilia B, pig

description: Hemophilia B that occurs in pig.


name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


familial multiple meningioma

description: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


properdin deficiency, X-linked

description: A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.


Blake pouch cyst

description: Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


SPAST-related motor disorder

description: Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


name: GYG1-related disorder of glycogen metabolism

description: Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.


name: autosomal dominant nonsyndromic hearing loss 12

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.


reactive cutaneous fibrous lesion

description: A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.


name: autosomal recessive nonsyndromic hearing loss 8

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.


name: symbrachydactyly of hand and foot, bilateral


isolated congenital digital clubbing

description: Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.


name: parotid salivary glands, polycystic dysgenetic disease of


atypical endometrial hyperplasia

description: An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.


name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


uncombable hair syndrome

description: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 1


name: nystagmus 7, congenital, autosomal dominant


SERAC1-related neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.


name: agammaglobulinemia 8b, autosomal recessive


Stüve-Wiedemann syndrome 1

description: A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.


name: classic pantothenate kinase-associated neurodegeneration


thrombocytopenia 2

description: An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.


Rh deficiency syndrome

description: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.


Bencze syndrome

description: Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.


conventional osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


Bardet-Biedl syndrome 14

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.


Plasmodium malariae malaria

description: Malaria resulting from infection by Plasmodium malariae.


name: multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

description: Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).


name: immunodeficiency 14b, autosomal recessive


tibial neuropathy

description: Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)


potassium-aggravated myotonia

description: Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.


osteoarthritis, koala

description: Osteoarthritis that occurs in koala.


pudendal neuralgia

description: Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.


corpus uteri neoplasm

description: A neoplasm (disease) that involves the body of uterus.


spinocerebellar ataxia type 41

description: Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.


sparganosis

description: A condition resulting from infection with the second stage larvae of the parasite Spirometra.


description: A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.


name: spondylometaphyseal dysplasia, 'corner fracture' type

description: A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).


name: intellectual disability, Buenos-Aires type

description: Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.


name: mitochondrial complex IV deficiency, nuclear type 1


nystagmus 1, congenital, X-linked

description: Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.


name: tick-borne infectious disease, non-human animal

description: Tick-borne infectious disease that occurs in non-human animals.


lysinuric protein intolerance

description: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.


Bifidobacteriales infectious disease

description: Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.


name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

description: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).


name: combined immunodeficiency due to LRBA deficiency


tooth agenesis, selective, 8

description: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.


GRM6-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.


name: myopathy-growth delay-intellectual disability-hypospadias syndrome


name: Phelan-McDermid syndrome, crab-eating macaque

description: Phelan-McDermid syndrome that occurs in crab-eating macaque.


mosaic variegated aneuploidy syndrome

description: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


name: Bordetella parapertussis infectious disease

description: Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.


name: muscular dystrophy, Duchenne type, non-human animal

description: Muscular dystrophy, Duchenne type that occurs in non-human animals.


nephrogenic adenofibroma

description: A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.


cataract 6 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.


border disease

description: Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.


Meckel syndrome, type 9

description: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.


atypical carcinoid tumor

description: A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.


name: congenital adrenal hyperplasia, non-human animal

description: Congenital adrenal hyperplasia that occurs in non-human animals.


ligament disorder

description: A disease or disorder that involves the ligament.


juvenile amyotrophic lateral sclerosis

description: Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.


name: microcephaly-complex motor and sensory axonal neuropathy syndrome

description: Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.


myofibroblastoma

description: A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


papular mucinosis of infancy

description: Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.


congenital hydronephrosis

description: Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


name: autosomal dominant nonsyndromic hearing loss 1

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.


name: central polydactyly of fingers, unilateral


COL4A1-related disorder

description: The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).


chromosome 9 disorder

description: Chromosomal disorder in which chromosome 9 is affected.


primary progressive aphasia

description: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


diabetic embryopathy

description: Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.


hypomandibular faciocranial dysostosis

description: Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.


Acanthamoeba infectious disease

description: An infectious disease involving the Acanthamoeba.


fibromyxoid tumor

description: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.


name: megalencephalic leukoencephalopathy with subcortical cysts 2A


peripheral precocious puberty

description: Precocious puberty caused by sex hormones.


name: neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


Hughes-Stovin syndrome

description: Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.


name: autosomal recessive nonsyndromic hearing loss 25

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.


name: oculodentodigital dysplasia, autosomal recessive

description: Autosomal recessive form of oculodentodigital dysplasia.


name: congenital fibrosis of extraocular muscles type 1

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


small size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.


name: fibrosis of extraocular muscles, congenital, 5

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


microcephaly and chorioretinopathy 2

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.


name: aniridia - intellectual disability syndrome

description: Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.


immune hydrops fetalis

description: Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.


name: adult-onset proximal spinal muscular atrophy, autosomal dominant


Brugada syndrome 7

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.


name: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


tuberculosis, non-human animal

description: Tuberculosis that occurs in non-human animals.


uveal cancer

description: A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.


anovulation

description: The absence of ovulation.


name: hereditary sensory and autonomic neuropathy type 7

description: Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'


name: primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

description: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.


arthrogryposis-like syndrome

description: Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.


name: epidermolysis bullosa, junctional 2B, severe


endometrial stromal tumor

description: Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).


mycosis fungoides, non-human animal

description: Mycosis fungoides that occurs in non-human animals.


description: A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.


carotid artery thrombosis

description: Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.


cryptorchidism, sheep

description: Cryptorchidism that occurs in sheep.


name: dextro-looped transposition of the great arteries

description: Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.


name: autoimmune disease, multisystem, infantile-onset


name: leukemia, acute lymphoblastic, susceptibility to, 3

description: Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.


hereditary multiple osteochondromas

description: A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.


specific phobia

description: An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.


name: preauricular tag, isolated, autosomal dominant, 1


name: maternal uniparental disomy of chromosome 6

description: Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.


benign laryngeal neoplasm

description: A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.


peroxisome biogenesis disorder 8B

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


syndromic craniosynostosis

description: A craniosynostosis that is part of a larger syndrome.


name: myopathy due to malate-aspartate shuttle defect


name: acute myeloid leukemia, t(3;12)(q23;p12.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)


name: intellectual disability, X-linked 99, syndromic, female-restricted

description: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.


swine influenza

description: An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.


name: pigmented paravenous retinochoroidal atrophy

description: Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.


name: acute myeloblastic leukemia with maturation

description: An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)


transverse vaginal septum

description: A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.


name: myopathy, distal, 7, adult-onset, X-linked


hypospadias, horse

description: Hypospadias that occurs in horse.


name: silver-Russell syndrome due to an imprinting defect of 11p15


name: neuronopathy, distal hereditary motor, autosomal recessive 8


cold-induced sweating syndrome

description: Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.


acquired angioedema

description: Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.


name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


cleft palate, dog

description: Cleft palate that occurs in dog.


sinoatrial node disorder

description: A disease involving the sinoatrial node.


name: retinopathy, pigmentary, and intellectual disability


name: IL21-related infantile inflammatory bowel disease


name: mitochondrial complex 1 deficiency, nuclear type 27


name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

description: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.


name: developmental and epileptic encephalopathy, 63


conjunctival cancer

description: A malignant neoplasm involving the conjunctiva.


name: neuronopathy, distal hereditary motor, autosomal dominant 10


multicentric Castleman disease

description: Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.


name: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


flat urothelial hyperplasia

description: A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003


name: amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis


inherited hemoglobinopathy

description: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.


name: immunodeficiency 101 (varicella zoster virus-specific)


spondylometaphyseal dysplasia

description: Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.


neoplasm of parietal lobe

description: A neoplasm (disease) that involves the parietal lobe.


pure autonomic failure

description: Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.


lymphogranuloma venereum

description: Infection with the organism Mycobacterium.


name: ulnar/fibula ray defect-brachydactyly syndrome

description: Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.


polycythemia neonatorum

description: A condition in which the red blood cell level is greater than established reference ranges in a newborn.


name: agammaglobulinemia 3, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.


ring chromosome 6

description: Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.


candidiasis, familial, 9

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.


description: Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.


name: ichthyosis-oral and digital anomalies syndrome

description: Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.


name: superior transverse scapular ligament, calcification of, familial


name: neurofacioskeletal syndrome with or without renal agenesis


alternating hemiplegia of childhood

description: A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.


name: high-grade neuroendocrine carcinoma of the cervix uteri

description: High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.


name: congenital lipoid adrenal hyperplasia due to STAR deficency

description: Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.


name: antigen defined by monoclonal antibody T87


Kindler syndrome

description: Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.


name: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

description: Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.


name: erythrokeratodermia variabilis et progressiva 4


autonomic neuropathy

description: An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.


B-cell prolymphocytic leukemia

description: A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.


autosomal dominant cataract

description: A syndromic cataract that has autosomal dominant inheritance.


name: tumoral calcinosis, hyperphosphatemic, familial, 2


acute laryngitis

description: An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


keratolytic winter erythema

description: Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.


tubular aggregate myopathy

description: Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.


name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

description: Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.


autosomal dominant osteopetrosis 1

description: Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.


name: hearing loss, autosomal recessive 118, with cochlear aplasia


pemphigus, horse

description: Pemphigus that occurs in horse.


hereditary spastic paraplegia 30

description: Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.


name: partial deletion of the long arm of chromosome 5


Diamond-Blackfan anemia 13

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.


premature ovarian failure 1

description: Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.


coloboma, cattle

description: Coloboma that occurs in cattle.


Amish lethal microcephaly

description: Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.


Schnitzler syndrome

description: A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.


hemopneumothorax

description: Collection of air and blood in the pleural cavity.


name: atypical chronic myeloid leukemia, BCR-ABL1 negative

description: A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)


Smith-McCort dysplasia 1

description: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.


diploid-triploid mosaicism

description: Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.


name: developmental and epileptic encephalopathy, 36

description: An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.


animal phobia

description: An overwhelming, irrational, and persistent fear of animals.


name: idiopathic peripheral autonomic neuropathy


name: multisystem autoimmune disease due to IKAROS gain of function

description: An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.


PRPF31-related retinopathy

description: An inherited retinopathy caused by variants in the PRPF31 gene.


name: X-linked spasticity-intellectual disability-epilepsy syndrome


chemotherapy-induced toxicity

description: Toxicities following administration of chemotherapeutic agents


name: synovial chondromatosis, non-human animal

description: Synovial chondromatosis that occurs in non-human animals.


name: developmental and epileptic encephalopathy 98


name: neuronopathy, distal hereditary motor, type 5


name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

description: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.


scleromalacia perforans

description: A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.


name: Ullrich congenital muscular dystrophy 1B


adjustment disorder

description: A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.


name: myopathy due to calsequestrin and SERCA1 protein overload

description: Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.


name: ichthyosis, hystrix-like, with hearing loss


leiomyoma of ciliary body

description: A leiomyoma that involves the ciliary body.


name: neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities


gummatous syphilis

description: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.


age related macular degeneration 10

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.


melancholia

description: A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.


hyperthyroidism, domestic cat

description: Hyperthyroidism that occurs in domestic cat.


cryptorchidism, cattle

description: Cryptorchidism that occurs in cattle.


submandibular gland disorder

description: A disease involving the submandibular gland.


name: therapy related acute myeloid leukemia and myelodysplastic syndrome

description: An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)


cataract 30

description: A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.


description: An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.


name: developmental and epileptic encephalopathy, 59


diffuse neonatal hemangiomatosis

description: Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.


name: cerebellar, ocular, craniofacial, and genital syndrome


seizures, benign familial neonatal, 1

description: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.


name: autosomal recessive congenital cerebellar ataxia


name: Okihiro syndrome due to a point mutation


PCWH syndrome

description: A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.


canine granular cell tumor

description: A granular cell tumor occurring in a dog.


hereditary hyperparathyroidism

description: An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.


name: cerebellar atrophy, developmental delay, and seizures


acute myeloid leukemia, t(2;12)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)


tremor, hereditary essential, 4

description: Any essential tremor in which the cause of the disease is a mutation in the FUS gene.


name: autosomal dominant nonsyndromic hearing loss 4A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.


name: spastic paraplegia-epilepsy-intellectual disability syndrome


name: spondylometaphyseal dysplasia with corneal dystrophy


cataract 31 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.


autosomal recessive osteopetrosis 5

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.


name: Silverman-Handmaker type dyssegmental dysplasia

description: Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.


description: T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.


diaphragmatic hernia 3

description: Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.


BARD1-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.


name: congenital elbow dislocation, unilateral


Alzheimer disease 18

description: Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.


familial multiple discoid fibromas

description: A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.


name: generalized epilepsy with febrile seizures plus, type 4


description: Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.


pneumothorax, non-human animal

description: Pneumothorax that occurs in non-human animals.


benign reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.


Meier-Gorlin syndrome 7

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.


IgG4-related pachymeningitis

description: Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.


description: LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.


adrenal gland neoplasm

description: A neoplasm (disease) that involves the adrenal gland.


subdural empyema

description: An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.


name: keratosis follicularis spinulosa decalvans, autosomal dominant


ecthyma

description: An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)


Friedreich ataxia 1

description: Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.


mycosis fungoides, dog

description: Mycosis fungoides that occurs in dog.


leber congenital amaurosis, dog

description: Leber congenital amaurosis that occurs in dog.


name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11


skeletal system disorder

description: A disease involving the skeletal system.


name: omphalocele, diaphragmatic hernia, and radial ray defects


disorder of facial skeleton

description: A disease that involves the facial skeleton.


name: ALG9-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).


name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

description: 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.


CEP290-related ciliopathy

description: A ciliopathy caused by biallelic variants in the CEP290 gene.


eyebrow duplication-syndactyly syndrome

description: Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.


Pediculus humanus corporis infestation

description: A infectious disease involving the Pediculus humanus corporis.


hawkinsinuria

description: Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.


endometrioid stromal sarcoma

description: A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.


name: cleft lip/palate-deafness-sacral lipoma syndrome

description: Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.


name: ectodermal dysplasia-sensorineural deafness syndrome

description: Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.


benign spiradenoma

description: A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.


labium majus cancer

description: A malignant neoplasm involving the labium majora.


name: muscular dystrophy, limb-girdle, autosomal recessive 23


nephroma

description: A kidney benign neoplasm that is located in the kidney cortex.


name: Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia


name: female infertility due to zona pellucida defect

description: Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.


conjunctival tumor

description: A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.


name: familial focal epilepsy with variable foci

description: Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


name: hypogonadotropic hypogonadism 8 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.


name: Kleefstra syndrome due to a point mutation


name: LMNA-related cardiocutaneous progeria syndrome

description: A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.


phagocyte bactericidal dysfunction

description: Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.


name: infant epilepsy with migrant focal crisis

description: An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.


fetal parvovirus syndrome

description: Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.


parametrium malignant neoplasm

description: A malignant neoplasm involving the parametrium.


name: leukemia, chronic lymphocytic, susceptibility to, 3


necrosis of pituitary

description: Ischemic or hemorrhagic necrosis of the pituitary gland.


name: intellectual developmental disorder, autosomal dominant 70


retinitis pigmentosa 66

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.


name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome


name: cardioauditory syndrome of Sanchez Cascos


reproductive system disorder

description: A disease involving the reproductive system.


discrete subaortic stenosis

description: A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.


name: bladder inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


name: familial clubfoot due to 17q23.1q23.2 microduplication

description: 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.


laryngeal diphtheria

description: Infection of the larynx by Corynebacterium diphtheriae.


name: pauci-immune glomerulonephritis without ANCA

description: Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.


chromosome 1p32-p31 deletion syndrome

description: 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


name: partial trisomy/tetrasomy of the short arm of chromosome 12


Sandhoff disease, adult form

description: A Sandhoff disease that occurs in an adult.


bordetellosis

description: Any disease caused by infection with organisms of the genus Bordetella.


Rickettsiaceae infectious disease

description: Infections with bacteria of the family rickettsiaceae.


testicular disorder

description: A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.


name: intellectual disability-facial dysmorphism-hand anomalies syndrome


description: Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.


de Quervain disease

description: Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.


name: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

description: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.