name: GYG1-related disorder of glycogen metabolism

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


name: autosomal dominant nonsyndromic hearing loss 12

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

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


reactive cutaneous fibrous lesion

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


name: autosomal recessive nonsyndromic hearing loss 8

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


isolated congenital digital clubbing

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


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


name: Ehlers-Danlos syndrome, spondylodysplastic type, 1


name: nystagmus 7, congenital, autosomal dominant


SERAC1-related neurological disorder

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


name: agammaglobulinemia 8b, autosomal recessive


Stüve-Wiedemann syndrome 1

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


name: classic pantothenate kinase-associated neurodegeneration


thrombocytopenia 2

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


Rh deficiency syndrome

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


Bencze syndrome

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


Bardet-Biedl syndrome 14

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


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

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


name: immunodeficiency 14b, autosomal recessive


tibial neuropathy

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


osteoarthritis, koala

description: Osteoarthritis that occurs in koala.


corpus uteri neoplasm

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


spinocerebellar ataxia type 41

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


sparganosis

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


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


name: spondylometaphyseal dysplasia, 'corner fracture' type

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


name: intellectual disability, Buenos-Aires type

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


name: mitochondrial complex IV deficiency, nuclear type 1


nystagmus 1, congenital, X-linked

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


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

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


lysinuric protein intolerance

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


Bifidobacteriales infectious disease

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


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

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


name: combined immunodeficiency due to LRBA deficiency


tooth agenesis, selective, 8

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


GRM6-related retinopathy

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


name: Phelan-McDermid syndrome, crab-eating macaque

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


mosaic variegated aneuploidy syndrome

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


name: Bordetella parapertussis infectious disease

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


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

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


nephrogenic adenofibroma

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


cataract 6 multiple types

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


border disease

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


Meckel syndrome, type 9

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


name: congenital adrenal hyperplasia, non-human animal

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


papular mucinosis of infancy

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


name: autosomal dominant nonsyndromic hearing loss 1

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


chromosome 9 disorder

description: Chromosomal disorder in which chromosome 9 is affected.


hypomandibular faciocranial dysostosis

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


fibromyxoid tumor

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


name: megalencephalic leukoencephalopathy with subcortical cysts 2A


peripheral precocious puberty

description: Precocious puberty caused by sex hormones.


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


name: autosomal recessive nonsyndromic hearing loss 25

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


name: oculodentodigital dysplasia, autosomal recessive

description: Autosomal recessive form of oculodentodigital dysplasia.


name: congenital fibrosis of extraocular muscles type 1

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


small size posterior uveal melanoma

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


name: fibrosis of extraocular muscles, congenital, 5

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


microcephaly and chorioretinopathy 2

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


immune hydrops fetalis

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


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


Brugada syndrome 7

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


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


tuberculosis, non-human animal

description: Tuberculosis that occurs in non-human animals.


uveal cancer

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


name: hereditary sensory and autonomic neuropathy type 7

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


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

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


arthrogryposis-like syndrome

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


name: epidermolysis bullosa, junctional 2B, severe


endometrial stromal tumor

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


mycosis fungoides, non-human animal

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


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


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).


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: 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.


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.


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: 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


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: 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


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: 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.


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: 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: 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


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.


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.


hemopneumothorax

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


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.


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


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.


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.


cataract 30

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


name: developmental and epileptic encephalopathy, 59


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.


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


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.


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.


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.


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.


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


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.


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.


Pediculus humanus corporis infestation

description: A infectious disease involving the Pediculus humanus corporis.


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.


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.


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.


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.


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.


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: 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.


name: intellectual disability-facial dysmorphism-hand anomalies syndrome


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.


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.


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


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.


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.


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.


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.


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.


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: 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.


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.


steroid inherited metabolic disorder

description: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.


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.


mammary neoplasms, animal

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


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: 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.


dental pulp disorder

description: A disease involving the dental pulp.


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.


Darier disease, non-human animal

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


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.


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.


name: dyskeratosis congenita, autosomal recessive 7


horse lymphoma

description: Lymphoma that occurs in a horse.


name: punctate acrokeratoderma freckle-like pigmentation


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


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.


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.


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


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.


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.


Usher syndrome type 2A

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


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.


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.


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: 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


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


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


name: anemia, hypochromic microcytic with iron overload


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}).


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.


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


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.


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.


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.


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.


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.


distal trisomy 1p36

description: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.


congenital renal artery stenosis

description: A narrowing of renal arteries that is present since birth.


age related macular degeneration 11

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.


name: proximal myopathy with focal depletion of mitochondria


citrullinemia, non-human animal

description: Citrullinemia that occurs in non-human animals.


name: ectodermal dysplasia-syndactyly syndrome 1

description: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.


chlamydia infectious disease

description: Infections with bacteria of the genus CHLAMYDIA.


name: congenital absence of thigh and lower leg with foot present, bilateral


description: T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.


name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

description: This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.


paratenonitis with tendinosis

description: Paratenonitis associated with intratendinous degeneration.


name: trimethylaminuria (fishy taint), Japanese quail

description: Trimethylaminuria (fishy taint) that occurs in Japanese quail.


distal arthrogryposis type 5D

description: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.


human African trypanosomiasis

description: A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.


neuropathy with hearing impairment

description: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


posterior mediastinum cancer

description: A malignant neoplasm involving the posterior mediastinum.


name: autosomal recessive nonsyndromic hearing loss 86

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


localized Castleman disease

description: Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.


BRCA2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.


hydranencephaly, sheep

description: Hydranencephaly that occurs in sheep.


name: developmental and epileptic encephalopathy, 56


intermediate cell type uveal melanoma

description: Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


immune system organ benign neoplasm

description: A benign neoplasm that involves the immune organ.


spinal stenosis

description: Narrowing of the spinal canal.


autosomal recessive ocular albinism

description: Autosomal recessive form of ocular albinism (disease).


name: peroxisome biogenesis disorder 12A (Zellweger)


Astroviridae infectious disease

description: Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.


post-viral disorder

description: A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.


sarcoma with BCOR genetic alterations

description: A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.


name: protein-losing enteropathy, non-human animal

description: Protein-losing enteropathy that occurs in non-human animals.


description: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.


Bartter syndrome type 4

description: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


microphthalmia, pig

description: Microphthalmia that occurs in pig.


name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

description: A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.


tetralogy of fallot, snow leopard

description: Tetralogy of fallot that occurs in snow leopard.


amelogenesis imperfecta type 1B

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


acrokeratosis verruciformis

description: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.


name: multiple benign circumferential skin creases on limbs 1


name: disorder of carnitine cycle and carnitine transport


migraine, familial hemiplegic, 3

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.


name: partial deletion of the long arm of chromosome 20


name: megalencephalic leukoencephalopathy with subcortical cysts 3


impetigo herpetiformis

description: An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.


name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


1p21.3 microdeletion syndrome

description: 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.


ALS2-related motor neuron disease

description: Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.


name: congenital muscular dystrophy with intellectual disability and severe epilepsy


familial hypobetalipoproteinemia 2

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


maternally-inherited spastic paraplegia

description: A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.


name: inflammatory linear verrucous epidermal nevus


fibular dimelia-diplopodia syndrome

description: Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.


name: spastic paraplegia 18a, autosomal dominant


name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


name: spinocerebellar ataxia, autosomal recessive 29


name: congenital hypoplasia of the mitral valve annulus

description: Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.


name: autoimmune thrombocytopenic purpura, pig

description: Autoimmune thrombocytopenic purpura that occurs in pig.


patent ductus arteriosus, domestic cat

description: Patent ductus arteriosus that occurs in domestic cat.


multiple epiphyseal dysplasia type 4

description: Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.


cornea cancer

description: A malignant neoplasm involving the cornea.


autosomal dominant keratitis

description: Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.


description: An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.


thyroid gland angiosarcoma

description: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.


pseudopelade of Brocq

description: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.


amoebiasis due to free-living amoebae

description: Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.


Hennekam syndrome

description: Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


sheep disease

description: Diseases of domestic and mountain sheep of the genus Ovis.


name: myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

description: A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, FGFR1, or JAK2 genes, resulting in the formation of tyrosine kinase fusion transcripts. Eosinophilia is a characteristic finding but it is not always present.


name: generalized basaloid follicular hamartoma syndrome

description: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


name: rippling muscle disease with myasthenia gravis


pityriasis rosea, non-human animal

description: Pityriasis rosea that occurs in non-human animals.


hereditary angioedema type 3

description: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: alpha-N-acetylgalactosaminidase deficiency type 3

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.


cataract 40

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


retinitis pigmentosa 10

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.


name: nephrogenic diabetes insipidus-intracranial calcification syndrome

description: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.


description: A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.


name: congenital myopathy 2b, severe infantile, autosomal recessive


keratoconjunctivitis, non-human animal

description: Keratoconjunctivitis that occurs in non-human animals.


Bardet-Biedl syndrome 13

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.


name: peroxisome biogenesis disorder 11A (Zellweger)


intellectual disability, X-linked 102

description: An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.


description: Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.