trichostasis spinulosa

description: Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.


mosaic trisomy 14

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

description: Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.


name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


Peters anomaly, snow leopard

description: Peters anomaly that occurs in snow leopard.


name: age-related macular degeneration, non-human animal

description: Age-related macular degeneration that occurs in non-human animals.


disorder of protein N-glycosylation

description: A disease that has its basis in the disruption of protein N-linked glycosylation.


glycogen storage disease IXb

description: A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.


mosaic trisomy 20

description: Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.


name: spondylometaphyseal dysplasia, Golden type

description: Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


diprosopus, sheep

description: Diprosopus that occurs in sheep.


Wieacker-Wolff syndrome

description: A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.


Evans syndrome, non-human animal

description: Evans syndrome that occurs in non-human animals.


name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

description: Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


branchial arch disease

description: A disease that involves the pharyngeal system development.


name: epidermolysis bullosa simplex due to plakophilin deficiency

description: Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.


name: maternal uniparental disomy of chromosome 1

description: Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


brittle cornea syndrome 1

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.


name: T-B+ severe combined immunodeficiency due to CD45 deficiency


microphthalmia, water buffalo

description: Microphthalmia that occurs in water buffalo.


Dent disease type 1

description: Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.


name: isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

description: Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


Toriello-Carey syndrome

description: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.


Leber congenital amaurosis 11

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


chorea gravidarum

description: A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)


name: short-rib thoracic dysplasia 9 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.


name: central nervous system organ benign neoplasm

description: A benign neoplasm that involves the central nervous system.


blue diaper syndrome

description: Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.


hypomyelinating leukodystrophy 11

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.


polycystic kidney disease 5

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


spirillary rat-bite fever

description: Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.


name: mitochondrial complex 4 deficiency, nuclear type 10


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


lipoic acid synthetase deficiency

description: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


name: developmental and epileptic encephalopathy 100


name: partial bilateral aplasia of the mullerian ducts


renal dysplasia, non-human animal

description: Renal dysplasia that occurs in non-human animals.


name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


name: combined immunodeficiency due to OX40 deficiency

description: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


name: combined oxidative phosphorylation deficiency 56


Meacham syndrome

description: Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.


microphthalmia, isolated, with coloboma

description: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


pontocerebellar hypoplasia type 10

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


name: acute myeloid leukemia, t(8;21)(q22; q22.1)

description: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


Pontiac fever

description: Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.


cervical adenomyoma

description: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.


name: catecholaminergic polymorphic ventricular tachycardia 3

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.


name: hemolytic disease of fetus and newborn, RH-induced


malignant histiocytosis, dog

description: Malignant histiocytosis that occurs in dog.


name: autosomal dominant limb-girdle muscular dystrophy type 1H

description: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


tricuspid valve disorder

description: A disease involving the tricuspid valve.


swine disease

description: Diseases of domestic swine and of the wild boar of the genus Sus.


omphalocele, cattle

description: Omphalocele that occurs in cattle.


name: SRD5A3-congenital disorder of glycosylation

description: A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.


name: retroperitoneal inflammatory myofibroblastic tumor

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


pharyngoconjunctival fever

description: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.


distal trisomy 10q

description: Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


name: inborn disorder of tryptophan metabolism

description: An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.


retinitis pigmentosa 60

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.


kwashiorkor

description: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


name: developmental and epileptic encephalopathy 107

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


congenital ectropion uveae

description: Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.


delta-heavy chain disease

description: A heavy chain disease that results from an overproduction of delta antibody (IgD).


name: sporadic idiopathic steroid-resistant nephrotic syndrome

description: Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.


name: intellectual disability, X-linked, with panhypopituitarism


name: intellectual developmental disorder with dysmorphic facies and ptosis


cardiac tuberculosis

description: Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.


name: neurodevelopmental disorder with speech impairment and dysmorphic facies


peritoneal benign neoplasm

description: A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


bone leiomyosarcoma

description: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.


malignant childhood germ cell neoplasm

description: A malignant germ cell tumor that occurs during childhood.


name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome


name: dyskeratosis congenita, autosomal recessive 5

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


name: congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

description: X-linked form of nonsyndromic deafness.


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


benign neoplasm of floor of mouth

description: A benign neoplasm that involves the mouth floor.


name: intellectual disability, autosomal dominant 45


name: autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

description: Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trichostrongylosis

description: Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.


name: left superior vena cava persisting to left-sided atrium


osteoarthritis, domestic cat

description: Osteoarthritis that occurs in domestic cat.


name: developmental and epileptic encephalopathy, 17

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


name: amelogenesis imperfecta hypomaturation type 2A4

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.


ectropion, non-human animal

description: Ectropion that occurs in non-human animals.


patent urachus, sheep

description: Patent urachus that occurs in sheep.


Pseudomonas aeruginosa PA14 infection

description: A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.


non-human ape disease

description: Diseases of chimpanzees, gorillas, and orangutans.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


name: RBFOX2-related congenital heart disorder

description: Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.


osteonecrosis of genetic origin

description: An instance of osteonecrosis that is caused by a modification of the individual's genome.


nasal glial heterotopia

description: Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


name: spondyloepiphyseal dysplasia with congenital joint dislocations

description: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.


lipoma of spermatic cord

description: A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.


Seckel syndrome 1

description: Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.


retinal degeneration, domestic cat

description: Retinal degeneration that occurs in domestic cat.


Imerslund-Grasbeck syndrome type 1

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.


opsismodysplasia

description: Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.


name: nebulin-related early-onset distal myopathy


multiple synostoses syndrome 2

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


multiple epiphyseal dysplasia type 1

description: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.


parachute tricuspid valve

description: Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.


name: intellectual disability, autosomal dominant 22

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.


acute neonatal citrullinemia type I

description: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


lipoblastoma

description: A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.


cardiac ventricle disorder

description: A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

description: Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


name: generalized epilepsy with febrile seizures plus, type 8


hip dysplasia, Beukes type

description: Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.


name: congenital erosive and vesicular dermatosis


name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


ALECT2 amyloidosis

description: A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.


name: primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

description: An instance of lichen planus that is caused by an inherited modification of the individual's genome.


name: catecholaminergic polymorphic ventricular tachycardia 5

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.


group B streptococcal infection

description: A disease caused by infection with Group B Streptococcus.


name: autosomal recessive nonsyndromic hearing loss 76

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.


name: nasopharyngeal carcinoma, susceptibility to, 1

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.


hematologic disorder, non-human animal

description: Hematologic disorder that occurs in non-human animals.


hemochromatosis type 2B

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.


name: developmental and epileptic encephalopathy, 54


name: congenital anomaly of superior vena cava


inherited lipid metabolism disorder

description: An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.


atrichia with papular lesions

description: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


name: autosomal dominant proximal renal tubular acidosis

description: Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


name: motor neuron disease with dementia and ophthalmoplegia


name: congenital primary megaureter, refluxing form


cataract 14 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.


diabetes mellitus, non-human animal

description: Diabetes mellitus that occurs in non-human animals.


GNAT2-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


laryngeal neuroendocrine neoplasm

description: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


name: autoimmune pulmonary disease due to PD-1 deficiency

description: An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


name: intellectual disability-hypotonic facies syndrome, X-linked, 1

description: A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.


ferro-cerebro-cutaneous syndrome

description: Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.


neoplasm of immature B and T cells

description: A neoplasm arising from immature B and T cells


miliaria pustulosa

description: A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.


grade II lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


childhood kidney neoplasm

description: A kidney neoplasm that occurs during childhood.


pneumothorax, dog

description: Pneumothorax that occurs in dog.


description: Analphalipoproteinaemia that occurs in non-human animals.


posterior foramen magnum meningioma

description: A meningioma that affects the posterior foramen magnum.


cerebral hemisphere lipoma

description: A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.


dysosteosclerosis

description: Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.


amyotrophic lateral sclerosis type 8

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.


retinitis pigmentosa 4

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


epilepsy, non-human animal

description: Epilepsy that occurs in non-human animals.


name: RNASEH2B-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

description: A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.


Huntington disease-like 2

description: Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.


ectodermal dysplasia 4, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.


hyperparathyroidism 4

description: Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.


glossopharyngeal nerve paralysis

description: Paralysis of the glossopharyngeal nerve.


fetal carbamazepine syndrome

description: A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.


hip dysplasia, canine

description: A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.


name: autosomal dominant nonsyndromic hearing loss 3B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


propylthiouracil embryofetopathy

description: Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).


cono-spondylar dysplasia

description: Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.


vesiculitis

description: An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.


protothecosis

description: A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.


microtia, sheep

description: Microtia that occurs in sheep.


name: combined oxidative phosphorylation deficiency 39


louse-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


achondroplasia, water buffalo

description: Achondroplasia that occurs in water buffalo.


name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


name: mitochondrial complex 1 deficiency, nuclear type 32


name: mitochondrial oxidative phosphorylation disorder


Marden-Walker syndrome

description: Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.


name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


name: hyperphosphatasia with intellectual disability syndrome 5

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.


schizophrenia 2

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

description: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


cutaneous larva migrans

description: Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.


name: hypereosinophilic syndrome, domestic cat

description: Hypereosinophilic syndrome that occurs in domestic cat.


name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neuronal ceroid lipofuscinosis 5

description: Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: autosomal dominant nonsyndromic hearing loss 15

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.


eyelid hypopigmentation

description: Under-production of pigment in the eyelid.


name: persistent hyperplastic primary vitreous, autosomal dominant


autosomal recessive titinopathy

description: Autosomal recessive form of TTN-related myopathy.


name: incontinentia pigmenti, non-human animal

description: Incontinentia pigmenti that occurs in non-human animals.


patent ductus venosus, gray wolf

description: Patent ductus venosus that occurs in gray wolf.


juvenile primary lateral sclerosis

description: Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.


congenital myasthenic syndrome 13

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


acheiropody

description: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


laryngeal cartilage cancer

description: A malignant neoplasm involving the laryngeal cartilage.


abdominal obesity-metabolic syndrome 3

description: Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.


congenital myasthenic syndrome 19

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


spinocerebellar ataxia type 31

description: Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.


pediatric intraocular retinoblastoma

description: Retinoblastoma during childhood that has not spread beyond the eye.


HHV-7 infectious disease

description: A disease caused by infection with herpesvirus-7.


craniofrontonasal syndrome

description: An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.


name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

description: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.


mixed cell type kidney Wilms' tumor

description: Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).


congenital pseudomyotonia, dog

description: Congenital pseudomyotonia that occurs in dog.


vesicular exanthema of swine

description: A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.


name: idiopathic disseminated cytomegalovirus infection


anotia, non-human animal

description: Anotia that occurs in non-human animals.


atrial fibrillation, familial, 18

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.


20q13.33 microdeletion syndrome

description: 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.


orbital myositis

description: A rare form of myositis that affects only the orbital muscles.


name: syndromic X-linked intellectual disability Abidi type

description: X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.


Richieri Costa-Pereira syndrome

description: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.


Bartholin gland benign neoplasm

description: A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


ataxia-telangiectasia-like disorder 1

description: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


miliaria rubra

description: Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).


tarsal-carpal coalition syndrome

description: Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.


name: cystic partially differentiated nephroblastoma

description: A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.


Pelizaeus-Merzbacher-like disease

description: Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).


factor X deficiency, dog

description: Factor X deficiency that occurs in dog.


name: autosomal dominant nocturnal frontal lobe epilepsy 2

description: An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


porencephaly 2

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


name: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


diabetes insipidus, Japanese quail

description: Diabetes insipidus that occurs in Japanese quail.


familial meningioma

description: A meningioma that is transmitted from the parents to an offspring.


phalanx chondroma

description: A chondroma that involves the phalanx.


spinocerebellar ataxia type 19/22

description: Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.


AIDS related complex

description: A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.


name: mucopolysaccharidosis type 2, attenuated form

description: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.


name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

description: This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.


cataract 43

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


ITPKB deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.


name: blepharophimosis - intellectual disability syndrome, Verloes type


blue toe syndrome

description: A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.


name: polycystic kidney disease 3 with or without polycystic liver disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.


name: Niemann-Pick disease type C, adult neurologic onset


primary systemic mycosis

description: A systemic mycosis that arises from infection in an immunologically normal host.


name: free sialic acid storage disease, infantile form


gnathomiasis

description: An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).


nephronophthisis 11

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.


hereditary spastic paraplegia 23

description: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.


polyp of vagina

description: A polyp that involves the vagina.


atrial septal defect 1

description: An atrial heart septal defect type 1 associated with variation in the region 5p.


name: intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


name: subacute inflammatory demyelinating polyneuropathy

description: A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).


Brody myopathy

description: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.


name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


dehydration polycythemia

description: Polycythemia resulting from dehydration.


limb-mammary syndrome

description: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


name: brachydactyly-preaxial hallux varus syndrome

description: Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.


conventional angiosarcoma

description: An angiosarcoma characterized by the presence of malignant spindle endothelial cells.


retrocochlear disease

description: Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.


muscular dystrophy, domestic cat

description: Muscular dystrophy that occurs in domestic cat.


qualitative platelet defect

description: A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count.


retinal detachment, domestic cat

description: Retinal detachment that occurs in domestic cat.


rheumatoid nodulosis

description: A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.


pontocerebellar hypoplasia type 2D

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.


malignant Sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.


name: combined oxidative phosphorylation deficiency 38


description: X-linked form of epidermodysplasia verruciformis.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


medulloblastoma SHH activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


autosomal recessive osteopetrosis 6

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


name: radiation-induced disorder, non-human animal

description: Radiation-induced disorder that occurs in non-human animals.


vertebral disorder

description: A disease or disorder that involves the vertebra.


orofaciodigital syndrome IX

description: Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).


Pitt-Hopkins-like syndrome 2

description: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.


polymicrogyria, cattle

description: Polymicrogyria that occurs in cattle.


name: pulmonary atresia-intact ventricular septum syndrome

description: Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.


name: genetic central precocious puberty in female


name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.


name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

description: This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.


name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


microcephaly-cleft palate syndrome

description: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.


tetragametic chimerism

description: Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.


name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.


name: basal ganglia calcification, idiopathic, 9, autosomal recessive


name: factor 5 excess with spontaneous thrombosis


name: recombinase activating gene 2 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


childhood testicular neoplasm

description: A neoplasm that arises from the testis during childhood.


name: developmental and epileptic encephalopathy, 41

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


bone marrow failure syndrome 3

description: Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.


isolated microphthalmia 3

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.


name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome


hypoparathyroidism, horse

description: Hypoparathyroidism that occurs in horse.


name: isolated optic neuritis without anti-MOG antibodies


15q overgrowth syndrome

description: 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.


A53 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.


lymphosarcoma, rabbit

description: Lymphosarcoma that occurs in rabbit.


name: B acute lymphoblastic leukemia with PAX5 P80R mutation

description: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.


name: severe lateral tibial bowing with short stature

description: Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.


heart-hand syndrome type 2

description: Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).


adult xanthogranuloma

description: A xanthogranuloma that occurs in an adult.


erythrokeratoderma

description: An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


mandibulofacial dysostosis

description: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)


name: endometriosis of rectovaginal septum and vagina

description: Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.


glossopalatine ankylosis

description: Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.


granulomatous amebic encephalitis

description: Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.


disorder of glycosylation

description: A disease that has its basis in the disruption of glycosylation.


intellectual disability, X-linked 104

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.


name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


name: developmental and epileptic encephalopathy, 76

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


retinitis pigmentosa 58

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.


name: localized lichen myxedematosus with mixed features of different subtypes

description: Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.


commissural lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the labial commissure.


name: inherited bleeding disorder, platelet-type


acrofacial dysostosis, Weyers type

description: Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


hereditary spastic paraplegia 63

description: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.


hereditary night blindness

description: An instance of night blindness that is caused by an inherited modification of the individual's genome.


name: autosomal recessive nonsyndromic hearing loss 59

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


name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome


name: combined oxidative phosphorylation deficiency 37


childhood epithelioid sarcoma

description: An epithelioid sarcoma occurring in childhood.


fetal methylmercury syndrome

description: Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.


infantile bilateral striatal necrosis

description: Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.


name: epidermolytic hyperkeratosis 2A, autosomal dominant


factor VII deficiency, dog

description: Factor VII deficiency that occurs in dog.


name: scapuloperoneal spinal muscular atrophy, autosomal dominant


pelviscapular dysplasia

description: Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.


name: centripetalis recessive dystrophic epidermolysis bullosa

description: Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.


name: skin creases, congenital symmetric circumferential, 2


acrocardiofacial syndrome

description: Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.


name: partial monosomy of the long arm of chromosome 10


name: epidermolysis bullosa simplex with nail dystrophy


name: multinodular goiter-cystic kidney-polydactyly syndrome

description: Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.


name: congenital absence of both forearm and hand

description: Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.


name: congenital autosomal recessive small-platelet thrombocytopenia

description: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.


name: FOXC1-related anterior segment dysgenesis

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.


name: autosomal recessive congenital ichthyosis 9

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.


name: hereditary angioedema with C1Inh deficiency

description: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


ventricular septal defect, chicken

description: Ventricular septal defect that occurs in chicken.


wooly hair nevus

description: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


name: Tay-Sachs disease, b variant, infantile form


Charcot-Marie-Tooth disease type 1B

description: A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.


name: intellectual disability, autosomal dominant 54


name: melanoma, malignant familial intraocular


time agnosia

description: An agnosia that is a loss of the ability to comprehend the succession and duration of events.


name: fungal infectious disease, non-human animal

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


name: renal tubular dysgenesis of genetic origin

description: An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.


congenital factor XIII deficiency

description: Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.


familial osteosclerosis

description: An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.


cranioectodermal dysplasia 2

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.


name: postsynaptic congenital myasthenic syndrome


uterine adnexa cancer

description: Evidence of a malignant neoplasm of the uterine adnexa.


toxic or drug-related embryofetopathy

description: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.


name: deficiency in anterior pituitary function - variable immunodeficiency syndrome


chromosome 15q11.2 deletion syndrome

description: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).


name: non-spherocytic hemolytic anemia due to hexokinase deficiency

description: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.


hypospadias, dog

description: Hypospadias that occurs in dog.


alternariosis

description: Opportunistic fungal infection by a member of Alternaria genus.


horse sarcoid

description: A fibroblastic tumor that occurs in the skin of a horse.


name: lip herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).


name: demyelinating disease of central nervous system

description: Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.


tarsal kink syndrome

description: Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.


name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency


Charcot-Marie-Tooth disease type 1

description: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.


edema disease of swine

description: An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.


hypotrichosis 6

description: Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.


vulvar leiomyoma

description: A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


myopathy caused by variation in POMGNT2

description: Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.


orofaciodigital syndrome type 14

description: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


Horner syndrome, cattle

description: Horner syndrome that occurs in cattle.


valine metabolism disease

description: A disease that has its basis in the disruption of valine metabolic process.


notochordal tumor

description: A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.


Aicardi-Goutieres syndrome 6

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.


Braddock syndrome

description: Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.


name: autosomal recessive optic atrophy, OPA7 type


ocular onchocerciasis

description: Onchocerciasis affecting the eye.


myopathy, tubular aggregate, 2

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.


congenital hypothyroidism, goat

description: Congenital hypothyroidism that occurs in goat.


hereditary spastic paraplegia 33

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.


ciliary body disorder

description: A disease involving the ciliary body.


name: transgrediens et progrediens palmoplantar keratoderma


name: diaphragmatic hernia 4, with cardiovascular defects


name: ALG8-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.


bone chondrosarcoma

description: A chondrosarcoma (disease) that involves the bone tissue.


southeast Asian ovalocytosis

description: Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.


name: Charcot-Marie-Tooth disease recessive intermediate A

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.


familial developmental dysphasia

description: Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.


retinitis pigmentosa 73

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


multiple synostoses syndrome 3

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


patent ductus arteriosus, cattle

description: Patent ductus arteriosus that occurs in cattle.


name: epilepsy, familial focal, with variable foci 2

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


PSPH deficiency

description: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


microphthalmia, dog

description: Microphthalmia that occurs in dog.


name: autoimmune thrombocytopenic purpura, dog

description: Autoimmune thrombocytopenic purpura that occurs in dog.


name: secondary central precocious puberty in female


common peroneal nerve lesion

description: A peripheral nerve lesion that involves the common fibular nerve.


name: X-linked neurodegenerative syndrome, Hamel type

description: An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.


name: autosomal dominant nonsyndromic hearing loss 52

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.


name: B-lymphoblastic leukemia/lymphoma MLL rearranged

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.


germ cell benign neoplasm

description: A benign neoplasm that derives from germ cells.


internal carotid artery stenosis

description: Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.


Pelger-Huet anomaly, dog

description: Pelger-Huet anomaly that occurs in dog.


name: syndromic X-linked intellectual disability Shrimpton type

description: X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.


name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome

description: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.


dilated cardiomyopathy, pig

description: Dilated cardiomyopathy that occurs in pig.


name: neurodegeneration with brain iron accumulation 4

description: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.


name: combined oxidative phosphorylation defect type 14

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


name: growth hormone insensitivity syndrome with immune dysregulation


ataxia telangiectasia, pig

description: Ataxia telangiectasia that occurs in pig.


burkholderia infectious disease

description: Infections with bacteria of the genus Burkholderia.


name: diabetes insipidus, nephrogenic, autosomal


A20 haploinsufficiency

description: Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.


name: proteasome-associated autoinflammatory syndrome 6


name: congenital stationary night blindness 1G

description: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


primary ciliary dyskinesia 10

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.


description: Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.


platelet-type bleeding disorder 14

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.


amyotrophic lateral sclerosis type 22

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.


name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

description: A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.


name: PMP22-RAI1 contiguous gene duplication syndrome


retinitis pigmentosa 71

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.


description: Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.


polyglucosan body myopathy type 2

description: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


hereditary angioedema with normal C1Inh

description: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.


partial segmental duplication

description: A chromosomal disorder consisting of the partial duplication of chromosome 21.


retinitis pigmentosa 68

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.


name: myopathy, lactic acidosis, and sideroblastic anemia 2

description: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.


diprosopus, domestic cat

description: Diprosopus that occurs in domestic cat.


name: hypogonadotropic hypogonadism 2 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.


name: acetazolamide-responsive hereditary episodic ataxia

description: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.


name: central sleep apnea due to periodic breathing


trisomy 22

description: Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).


name: prenatal-onset spinal muscular atrophy with congenital bone fractures


Rhabditida infectious disease

description: Infections with nematodes of the order rhabditida.


hereditary spastic paraplegia 45

description: Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.


angiostrongyliasis

description: A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.


name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries


name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


name: medial condensing osteitis of the clavicle


malignant mixed neoplasm

description: A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.


name: pyruvate carboxylase deficiency, benign type

description: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


description: Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).


name: neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


myoclonus, familial, 1

description: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.


name: congenital adrenal hypoplasia, crab-eating macaque

description: Congenital adrenal hypoplasia that occurs in crab-eating macaque.


benign neoplasm of epididymis

description: A benign neoplasm that involves the epididymis.


childhood infratentorial neoplasm

description: A neoplasm that affects the infratentorial region of the brain and occurs during childhood.


name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


aortopulmonary coronary arterial course

description: Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.


name: distal 22q11.2 microduplication syndrome

description: Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 2

description: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


name: DDX41-related hematologic malignancy predisposition syndrome

description: Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.


description: KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.


scoliosis, chicken

description: Scoliosis that occurs in chicken.


exanthema subitum

description: An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.