name: hereditary sensory and autonomic neuropathy type 7

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


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

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

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


arthrogryposis-like syndrome

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


name: epidermolysis bullosa, junctional 2B, severe


endometrial stromal tumor

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


mycosis fungoides, non-human animal

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


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


substance-related disorder

description: A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).


carotid artery thrombosis

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


cryptorchidism, sheep

description: Cryptorchidism that occurs in sheep.


name: dextro-looped transposition of the great arteries

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


name: autoimmune disease, multisystem, infantile-onset


name: leukemia, acute lymphoblastic, susceptibility to, 3

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


hereditary multiple osteochondromas

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


specific phobia

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


name: preauricular tag, isolated, autosomal dominant, 1


name: maternal uniparental disomy of chromosome 6

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


benign laryngeal neoplasm

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


peroxisome biogenesis disorder 8B

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


syndromic craniosynostosis

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


name: myopathy due to malate-aspartate shuttle defect


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

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


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

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


swine influenza

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


name: pigmented paravenous retinochoroidal atrophy

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


name: acute myeloblastic leukemia with maturation

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


transverse vaginal septum

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


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


hypospadias, horse

description: Hypospadias that occurs in horse.


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


name: neuronopathy, distal hereditary motor, autosomal recessive 8


cold-induced sweating syndrome

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


acquired angioedema

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


name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


cleft palate, dog

description: Cleft palate that occurs in dog.


sinoatrial node disorder

description: A disease involving the sinoatrial node.


name: retinopathy, pigmentary, and intellectual disability


name: IL21-related infantile inflammatory bowel disease


name: mitochondrial complex 1 deficiency, nuclear type 27


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

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


name: developmental and epileptic encephalopathy, 63


conjunctival cancer

description: A malignant neoplasm involving the conjunctiva.


name: neuronopathy, distal hereditary motor, autosomal dominant 10


multicentric Castleman disease

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


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


flat urothelial hyperplasia

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


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


inherited hemoglobinopathy

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


name: immunodeficiency 101 (varicella zoster virus-specific)


spondylometaphyseal dysplasia

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


neoplasm of parietal lobe

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


pure autonomic failure

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


lymphogranuloma venereum

description: Infection with the organism Mycobacterium.


name: ulnar/fibula ray defect-brachydactyly syndrome

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


polycythemia neonatorum

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


name: agammaglobulinemia 3, autosomal recessive

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


ring chromosome 6

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


candidiasis, familial, 9

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


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


name: ichthyosis-oral and digital anomalies syndrome

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


name: superior transverse scapular ligament, calcification of, familial


name: neurofacioskeletal syndrome with or without renal agenesis


alternating hemiplegia of childhood

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


name: high-grade neuroendocrine carcinoma of the cervix uteri

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


name: congenital lipoid adrenal hyperplasia due to STAR deficency

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


name: antigen defined by monoclonal antibody T87


Kindler syndrome

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


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

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


name: erythrokeratodermia variabilis et progressiva 4


autonomic neuropathy

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


B-cell prolymphocytic leukemia

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


autosomal dominant cataract

description: A syndromic cataract that has autosomal dominant inheritance.


name: tumoral calcinosis, hyperphosphatemic, familial, 2


acute laryngitis

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


keratolytic winter erythema

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


tubular aggregate myopathy

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


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


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

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


autosomal dominant osteopetrosis 1

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


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


pemphigus, horse

description: Pemphigus that occurs in horse.


hereditary spastic paraplegia 30

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


name: partial deletion of the long arm of chromosome 5


Diamond-Blackfan anemia 13

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


premature ovarian failure 1

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


coloboma, cattle

description: Coloboma that occurs in cattle.


Amish lethal microcephaly

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


Schnitzler syndrome

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


hemopneumothorax

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


name: atypical chronic myeloid leukemia, BCR-ABL1 negative

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


Smith-McCort dysplasia 1

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


diploid-triploid mosaicism

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


name: developmental and epileptic encephalopathy, 36

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


animal phobia

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


name: idiopathic peripheral autonomic neuropathy


name: multisystem autoimmune disease due to IKAROS gain of function

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


PRPF31-related retinopathy

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


leprosy

description: Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.


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


chemotherapy-induced toxicity

description: Toxicities following administration of chemotherapeutic agents


name: synovial chondromatosis, non-human animal

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


name: developmental and epileptic encephalopathy 98


name: neuronopathy, distal hereditary motor, type 5


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

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


scleromalacia perforans

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


name: Ullrich congenital muscular dystrophy 1B


adjustment disorder

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


name: myopathy due to calsequestrin and SERCA1 protein overload

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


name: ichthyosis, hystrix-like, with hearing loss


leiomyoma of ciliary body

description: A leiomyoma that involves the ciliary body.


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


gummatous syphilis

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


age related macular degeneration 10

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


melancholia

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


hyperthyroidism, domestic cat

description: Hyperthyroidism that occurs in domestic cat.


cryptorchidism, cattle

description: Cryptorchidism that occurs in cattle.


submandibular gland disorder

description: A disease involving the submandibular gland.


name: therapy related acute myeloid leukemia and myelodysplastic syndrome

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


cataract 30

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


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


name: developmental and epileptic encephalopathy, 59


diffuse neonatal hemangiomatosis

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


name: cerebellar, ocular, craniofacial, and genital syndrome


seizures, benign familial neonatal, 1

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


name: autosomal recessive congenital cerebellar ataxia


name: Okihiro syndrome due to a point mutation


PCWH syndrome

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


canine granular cell tumor

description: A granular cell tumor occurring in a dog.


hereditary hyperparathyroidism

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


name: cerebellar atrophy, developmental delay, and seizures


acute myeloid leukemia, t(2;12)

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


tremor, hereditary essential, 4

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


name: autosomal dominant nonsyndromic hearing loss 4A

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


name: spastic paraplegia-epilepsy-intellectual disability syndrome


name: spondylometaphyseal dysplasia with corneal dystrophy


cataract 31 multiple types

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


autosomal recessive osteopetrosis 5

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


name: Silverman-Handmaker type dyssegmental dysplasia

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


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


diaphragmatic hernia 3

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


BARD1-related cancer predisposition

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


name: congenital elbow dislocation, unilateral


Alzheimer disease 18

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


familial multiple discoid fibromas

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


name: generalized epilepsy with febrile seizures plus, type 4


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


pneumothorax, non-human animal

description: Pneumothorax that occurs in non-human animals.


benign reproductive system neoplasm

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


Meier-Gorlin syndrome 7

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


IgG4-related pachymeningitis

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


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


adrenal gland neoplasm

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


subdural empyema

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


name: keratosis follicularis spinulosa decalvans, autosomal dominant


ecthyma

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


Friedreich ataxia 1

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


mycosis fungoides, dog

description: Mycosis fungoides that occurs in dog.


leber congenital amaurosis, dog

description: Leber congenital amaurosis that occurs in dog.


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


skeletal system disorder

description: A disease involving the skeletal system.


name: omphalocele, diaphragmatic hernia, and radial ray defects


disorder of facial skeleton

description: A disease that involves the facial skeleton.


name: ALG9-congenital disorder of glycosylation

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


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

description: A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.


CEP290-related ciliopathy

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


nasal disorder

description: A disease involving the nose.


eyebrow duplication-syndactyly syndrome

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


Pediculus humanus corporis infestation

description: A infectious disease involving the Pediculus humanus corporis.


hawkinsinuria

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


name: rheumatoid factor-negative juvenile idiopathic arthritis

description: Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.


endometrioid stromal sarcoma

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


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

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


name: ectodermal dysplasia-sensorineural deafness syndrome

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


benign spiradenoma

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


labium majus cancer

description: A malignant neoplasm involving the labium majora.


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


nephroma

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


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


name: female infertility due to zona pellucida defect

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


conjunctival tumor

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


name: familial focal epilepsy with variable foci

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


name: hypogonadotropic hypogonadism 8 with or without anosmia

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


name: Kleefstra syndrome due to a point mutation


name: LMNA-related cardiocutaneous progeria syndrome

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


phagocyte bactericidal dysfunction

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


name: infant epilepsy with migrant focal crisis

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


fetal parvovirus syndrome

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


parametrium malignant neoplasm

description: A malignant neoplasm involving the parametrium.


name: leukemia, chronic lymphocytic, susceptibility to, 3


necrosis of pituitary

description: Ischemic or hemorrhagic necrosis of the pituitary gland.


name: intellectual developmental disorder, autosomal dominant 70


retinitis pigmentosa 66

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


name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome


name: cardioauditory syndrome of Sanchez Cascos


reproductive system disorder

description: A disease involving the reproductive system.


discrete subaortic stenosis

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


name: bladder inflammatory myofibroblastic tumor

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


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

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


laryngeal diphtheria

description: Infection of the larynx by Corynebacterium diphtheriae.


name: pauci-immune glomerulonephritis without ANCA

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


chromosome 1p32-p31 deletion syndrome

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


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


Sandhoff disease, adult form

description: A Sandhoff disease that occurs in an adult.


bordetellosis

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


Rickettsiaceae infectious disease

description: Infections with bacteria of the family rickettsiaceae.


testicular disorder

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


name: intellectual disability-facial dysmorphism-hand anomalies syndrome


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


de Quervain disease

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


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

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


intracranial thrombosis

description: Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.


name: cleft lip with or without cleft palate, non-human animal

description: Cleft lip with or without cleft palate that occurs in non-human animals.


name: mild phosphoribosylpyrophosphate synthetase superactivity

description: Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


corneal dystrophy, domestic cat

description: Corneal dystrophy that occurs in domestic cat.


subjective cognitive decline

description: A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.


name: pseudoxanthoma elasticum (inherited or acquired)

description: An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.


polyp of ethmoidal sinus

description: A polyp that involves the ethmoid sinus.


dystonia 21

description: Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.


name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse


Crimean-Congo hemorrhagic fever

description: Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.


name: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

description: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.


autosomal dominant brachyolmia

description: Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.


choanal atresia, non-human animal

description: Choanal atresia that occurs in non-human animals.


name: short stature-valvular heart disease-characteristic facies syndrome

description: Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.


hypophosphatasia, sheep

description: Hypophosphatasia that occurs in sheep.


name: low-grade neuroendocrine tumor of the corpus uteri

description: Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.


pycnodysostosis

description: Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.


name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea

description: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.


hypotrichosis 1

description: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.


lower urinary tract calculus

description: A urolithiasis that involves the lower urinary tract.


gonadal disorder

description: A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.


name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth


localized lichen myxedematosus

description: Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.


suprasellar meningioma

description: A meningioma that affects the suprasellar region.


RDH5-related retinopathy

description: A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.


obesity-hypoventilation syndrome

description: Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.


nerve agent poisoning

description: A poisoning that is caused by exposure to a nerve agent or gas.


nephronophthisis 3

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.


name: inflammatory myopathy with abundant macrophages

description: Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.


SHOX-related short stature

description: SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.


patellofemoral pain syndrome

description: A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.


polydactyly, dog

description: Polydactyly that occurs in dog.


keratoconus 1

description: Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.


peeling skin syndrome 4

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.


Fanconi anemia complementation group P

description: Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.


acropectoral syndrome

description: Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.


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


name: intellectual disability, autosomal recessive 57

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.


Shwartzman phenomenon

description: Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.


name: hypogonadotropic hypogonadism 19 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.


sarcoma, avian

description: Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.


somatization disorder

description: Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)


name: autosomal recessive centronuclear myopathy

description: Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


diabetes mellitus, rabbit

description: Diabetes mellitus that occurs in rabbit.


name: intellectual disability, autosomal dominant 57


mosaic trisomy 3

description: Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.


name: paternal uniparental disomy of chromosome 5

description: Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


complete trisomy 21

description: Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.


neurofaciodigitorenal syndrome

description: Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.


parasympathetic nervous system disorder

description: A disease or disorder that involves the parasympathetic nervous system.


name: Huntington disease-like syndrome due to C9ORF72 expansions


name: otopalatodigital syndrome spectrum disorder

description: Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.


idiopathic neonatal atrial flutter

description: Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.


spina bifida occulta, non-human animal

description: Spina bifida occulta that occurs in non-human animals.


name: unspecified juvenile idiopathic arthritis

description: Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.


kernicterus due to isoimmunization

description: Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.


periodontitis, Rhesus monkey

description: Periodontitis that occurs in Rhesus monkey.


name: recurrent infections associated with rare immunoglobulin isotypes deficiency

description: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.


name: steroid dehydrogenase deficiency-dental anomalies syndrome

description: Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.


mammary neoplasms, animal

description: Tumors or cancer of the mammary gland in animals (mammary glands, animal).


name: sickle cell-beta-thalassemia disease syndrome

description: Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.


schizophrenia 16

description: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


corneal abscess

description: An abscess of the cornea.


name: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

description: A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.


name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome


muscular dystrophy, dog

description: Muscular dystrophy that occurs in dog.


diaphanospondylodysostosis

description: Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.


intramural coronary arterial course

description: Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.


benign blood vessel neoplasm

description: A benign neoplasm arising from arteries or veins.


name: autoimmune thrombocytopenic purpura, non-human animal

description: Autoimmune thrombocytopenic purpura that occurs in non-human animals.


name: progressive demyelinating neuropathy with bilateral striatal necrosis

description: Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.


dental pulp disorder

description: A disease involving the dental pulp.


SCARF syndrome

description: A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.


name: primary central nervous system vasculitis


bullous pemphigoid, pig

description: Bullous pemphigoid that occurs in pig.


name: microcephalic primordial dwarfism, Toriello type

description: Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.


hereditary spastic paraplegia 48

description: Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.


osteogenesis imperfecta type 11

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.


name: intellectual disability, X-linked, syndromic 33

description: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.


acute transverse myelitis

description: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).


Darier disease, non-human animal

description: Darier disease that occurs in non-human animals.


MORM syndrome

description: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.


description: Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.


name: autosomal dominant nonsyndromic hearing loss 7

description: An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.


name: stapes ankylosis with broad thumbs and toes

description: Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.


Hall-Riggs syndrome

description: Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.


polyp

description: A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.


frontometaphyseal dysplasia

description: Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.


name: craniometaphyseal dysplasia, autosomal recessive

description: Autosomal recessive form of craniometaphyseal dysplasia.


craniometaphyseal dysplasia

description: Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.


name: dyskeratosis congenita, autosomal recessive 7


horse lymphoma

description: Lymphoma that occurs in a horse.


adult medulloblastoma

description: A medulloblastoma arising from the brain, occurring in adults.


bronchus cancer

description: A malignant neoplasm involving the bronchus


Robin sequence-oligodactyly syndrome

description: Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.


name: familial juvenile hyperuricemic nephropathy


name: punctate acrokeratoderma freckle-like pigmentation


name: myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


hypokalemic periodic paralysis

description: Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


chromosomal disorder

description: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


name: MELAS syndrome caused by mutation in MTND5

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


self-limited neonatal seizures

description: A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.


description: This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.


name: Leber congenital amaurosis, non-human animal

description: Leber congenital amaurosis that occurs in non-human animals.


chronic progressive multiple sclerosis

description: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)


name: autosomal recessive agammaglobulinemia 1


beta-thalassemia HBB/LCRB

description: Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.


acquired ataxia

description: A type of ataxia that is acquired during the lifetime of the individual.


name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome


name: cataract - congenital heart disease - neural tube defect syndrome

description: Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.


name: spastic paraplegia 72b, autosomal recessive


exudative vitreoretinopathy 2, X-linked

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.


thrombocytopenic purpura

description: Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.


ulcerative stomatitis

description: Inflammation of the mouth mucosa associated with the presence of ulcers.


name: dysmorphism-pectus carinatum-joint laxity syndrome

description: Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.


parapharyngeal meningioma

description: An ectopic meningioma that arises from the parapharyngeal space.


Leber congenital amaurosis 9

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.


Plasmodium vivax malaria

description: Malaria resulting from infection by Plasmodium vivax.


neonatal myasthenia gravis

description: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)


Usher syndrome type 2A

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.


drug-induced vasculitis

description: A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.


chicken neoplasm

description: A neoplasm that occurs in a chicken.


Pitt-Hopkins-like syndrome

description: Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.


name: mitochondrial complex 1 deficiency, nuclear type 23


name: split hand-foot malformation 1 with sensorineural hearing loss

description: Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.


name: ceroid lipofuscinosis, neuronal, 6B (Kufs type)

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.


name: infective dermatitis associated with HTLV-1

description: A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.


name: lissencephaly type 3-metacarpal bone dysplasia syndrome

description: This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.


aplasia cutis autosomal recessive

description: Aplasia cutis with autosomal recessive inheritance.


chromosome 1q deletion

description: Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


malignant melanoma of the mucosa

description: A melanoma (disease) that involves the mucosa.


name: inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.


name: malignant vaginal mixed epithelial and mesenchymal neoplasm

description: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.


pityriasis versicolor

description: A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.


name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

description: This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.


cutis laxa, sika deer

description: Cutis laxa that occurs in sika deer.


name: alopecia-intellectual disability syndrome 4


name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature


kidney leiomyosarcoma

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


name: mitochondrial complex 3 deficiency, nuclear type 11


familial osteodysplasia, Anderson type

description: Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.


inborn disorder of bile acid synthesis

description: Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.


name: microcephaly 8, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.


name: partial trisomy/tetrasomy of the short arm of chromosome 18


name: opportunistic bacterial infectious disease


name: neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


name: isolated Dandy-Walker malformation without hydrocephalus


white muscle disease

description: A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)


name: pigmented nodular adrenocortical disease, primary, 3

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.


name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia

description: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.


pediatric fibrosarcoma

description: A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


situs inversus, domestic cat

description: Situs inversus that occurs in domestic cat.


colorectal cancer, susceptibility to, 3

description: Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.


name: early-onset autosomal dominant Alzheimer disease

description: A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


cerebral sarcoidosis

description: Sarcoidosis of the cerebrum.


herpetic whitlow

description: A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.


name: testicular anomalies with or without congenital heart disease


Grubben-de Cock-Borghgraef syndrome

description: Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.


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


hypermanganesemia with dystonia 2

description: Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.


name: circadian rhythm sleep disorder, delayed sleep phase type

description: A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.


name: anemia, hypochromic microcytic with iron overload


name: endothelial dystrophy, congenital hereditary, with nail hypoplasia


name: thin ribs-tubular bones-dysmorphism syndrome


name: spastic paraplegia-Paget disease of bone syndrome

description: Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.


nephrotic syndrome, dog

description: Nephrotic syndrome that occurs in dog.


name: self-limited familial neonatal-infantile epilepsy

description: An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.


name: hyperphenylalaninemia due to DNAJC12 deficiency

description: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


enthesopathy

description: A disorder involving the attachment of a tendon or ligament to a bone


name: non-functioning pituitary gland neoplasm

description: A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.


name: ovalocytosis, hereditary hemolytic, with defective erythropoiesis


Joubert syndrome with oculorenal defect

description: Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.


name: hereditary sensory and autonomic neuropathy type 2

description: Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.


name: autosomal dominant non-syndromic intellectual disability

description: Autosomal dominant form of non-syndromic intellectual disability.


Sakati-Nyhan syndrome

description: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.


osteochondrosis, horse

description: Osteochondrosis that occurs in horse.


ethylene glycol poisoning

description: Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.


hemoglobin C disease

description: Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).


name: peripheral motor neuropathy, childhood-onset, biotin-responsive


lissencephaly 8

description: Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.


name: central hypoventilation syndrome, congenital, 3


name: selective peripheral resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.


Huntington disease, pig

description: Huntington disease that occurs in pig.


name: enteropathy, familial, with villous edema and immunoglobulin G2 deficiency


spinocerebellar ataxia type 35

description: Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.


aortic valve disease 2

description: Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.


King-Denborough syndrome

description: A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.


tuberculoma

description: A tumor-like mass resulting from the enlargement of a tuberculous lesion.


triploidy, blue-and-yellow macaw

description: Triploidy that occurs in blue-and-yellow macaw.


name: neurodevelopmental disorder with microcephaly and movement abnormalities


acquired color blindness

description: Non-heritable difficulty in distinguishing colors.


purpura fulminans

description: A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.


familial ovarian cancer

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


name: intellectual disability, autosomal dominant 9

description: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.


primary amebic meningoencephalitis

description: A infectious disease involving the Naegleria fowleri.


retinitis pigmentosa 44

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


ameloblastoma, dog

description: Ameloblastoma that occurs in dog.


feline reticulum cell sarcoma

description: Reticulum cell sarcoma that occurs in a cat.