isolated cerebellar vermis hypoplasia

description: Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.


name: lower motor neuron syndrome with late-adult onset

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


nephrotic syndrome, domestic cat

description: Nephrotic syndrome that occurs in domestic cat.


pyosalpinx

description: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.


congenital nystagmus, non-human animal

description: Congenital nystagmus that occurs in non-human animals.


polydactyly, sheep

description: Polydactyly that occurs in sheep.


name: Shiga toxin-associated hemolytic uremic syndrome

description: A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.


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

description: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.


name: chromosome 17q21.31 duplication syndrome

description: The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


name: myopathy, congenital, with structured cores and z-line abnormalities


mosaic trisomy 21

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


name: ehlers-danlos syndrome, arthrochalasia type, 2


pediatric angiosarcoma

description: An angiosarcoma occurring in childhood.


name: familial clubfoot due to 5q31 microdeletion


lichen sclerosus et atrophicus

description: A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.


liposarcoma of bone

description: A very rare malignant adipose tissue neoplasm that arises from the bone.


name: lethal hemolytic anemia-genital anomalies syndrome

description: Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.


name: neurodevelopmental disorder with microcephaly and dysmorphic facies


acute disease

description: Disease having a short and relatively severe course.


name: Rhabdoviridae infectious disease, non-human animal

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


disappearing bone disease

description: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.


familial thyroid dyshormonogenesis

description: A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.


mild hypophosphatasia

description: Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.


name: macular corneal dystrophy, non-human animal

description: Macular corneal dystrophy that occurs in non-human animals.


name: heterotopia, periventricular, X-linked dominant


Wiedemann-Rautenstrauch syndrome

description: Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.


benign neoplasm of hard palate

description: A benign neoplasm that involves the hard palate.


pain agnosia

description: Loss of the ability to perceive and process pain.


name: cervical hypertrichosis-peripheral neuropathy syndrome

description: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.


calcaneonavicular coalition

description: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.


name: severe combined immunodeficiency due to CTPS1 deficiency

description: Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.


name: peste des petits ruminants infectious disease

description: A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.


spina bifida occulta, dog

description: Spina bifida occulta that occurs in dog.


lethal Kniest-like dysplasia

description: Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.


tetraploidy syndrome

description: The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.


name: juvenile-onset Steinert myotonic dystrophy


name: retinitis pigmentosa 87 with choroidal involvement


name: class V glucose-6-phosphate dehydrogenase deficiency


pontocerebellar hypoplasia type 9

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.


name: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

description: A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.


isolated cryptophthalmia

description: Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.


name: acrodermatitis enteropathica, non-human animal

description: Acrodermatitis enteropathica that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 15


refractory plasma cell neoplasm

description: A plasma cell neoplasm that is resistant to treatment.


exercise-induced anaphylaxis

description: A rare disorder in which anaphylaxis occurs in association with physical activity.


CTSC-related disorder

description: Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.


name: behavioral variant of frontotemporal dementia

description: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.


phocomelia, Schinzel type

description: Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.


name: autosomal dominant nonsyndromic hearing loss 10

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.


infantile systemic hyalinosis

description: Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.


name: intellectual disability, X-linked, syndromic, 35


name: microcephaly 6 with or without short stature

description: Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.


aortic aneurysm, familial thoracic 4

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.


description: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.


primary ciliary dyskinesia 22

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.


retinitis pigmentosa 55

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.


Dahlberg-Borer-Newcomer syndrome

description: Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.


name: mitochondrial complex 3 deficiency, nuclear type 10


description: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).


sialuria

description: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.


short QT syndrome type 2

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.


name: familial hemophagocytic lymphohistiocytosis 4

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.


fibrochondrogenesis

description: Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.


urinary bladder posterior wall cancer

description: Evidence of a malignant neoplasm of the posterior wall of bladder.


neurocutaneous melanocytosis

description: Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.


entropion, cattle

description: Entropion that occurs in cattle.


chromosome 16 disorder

description: Chromosomal disorder in which chromosome 16 is affected.


name: qualitative or quantitative defects of perlecan


primary laryngeal lymphangioma

description: Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.


intellectual disability, X-linked 103

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.


torsion dystonia 4

description: DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).


polydactyly, pig

description: Polydactyly that occurs in pig.


lipoma of face

description: A lipoma that involves the face.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.


name: brain malformations with or without urinary tract defects

description: A brain disorder caused by pathogenic variants in NFIA that is 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.


hereditary Wilms tumor

description: Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)


conventional leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.


name: ulna hypoplasia-intellectual disability syndrome

description: Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.


name: Angelman syndrome due to imprinting defect in 15q11-q13


name: complex cortical dysplasia with other brain malformations 2

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.


name: Prader-Willi syndrome due to imprinting mutation


Basaran Yilmaz syndrome

description: A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.


name: keratosis follicularis spinulosa decalvans

description: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


name: congenital primary megaureter, refluxing and obstructed form


name: mitochondrial proton-transporting ATP synthase complex deficiency

description: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


hypogonadism, deer

description: Hypogonadism that occurs in deer.


name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form


galactosemia, non-human animal

description: Galactosemia that occurs in non-human animals.


mirror movements 2

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.


large B-cell lymphoma

description: A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.


Meckel syndrome, type 5

description: Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


acute cervicitis

description: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.


name: enterovirus infectious disease, non-human animal

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


orchitis, dog

description: Orchitis that occurs in dog.


vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


cerebrocostomandibular syndrome

description: Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


thalamic disorder

description: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


diabetes insipidus, horse

description: Diabetes insipidus that occurs in horse.


name: spondyloepiphyseal dysplasia, MacDermot type

description: Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.


tricarboxylic acid cycle disorder

description: An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


Alzheimer disease type 1

description: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


split hand, non-human animal

description: Split hand that occurs in non-human animals.


cervical artery dissection

description: A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.


name: combined oxidative phosphorylation deficiency 58


PENS syndrome

description: PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.


name: malignant epithelial tumor of salivary glands


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


fallopian tube disorder

description: A disease involving the fallopian tube.


name: chronic mucocutaneous candidiasis due to lymphokine deficiency


annular atrophic lichen planus

description: Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.


Borjeson-Forssman-Lehmann syndrome

description: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


myotonic syndrome

description: An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.


eccrine mixed tumor of skin

description: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.


SAMHD1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.


polydactyly, Western roe deer

description: Polydactyly that occurs in Western roe deer.


urolithiasis, cattle

description: Urolithiasis that occurs in cattle.


name: developmental and epileptic encephalopathy, 69


prurigo

description: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


name: corticosterone methyloxidase type 2 deficiency


hepatitis, infectious canine

description: A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.


name: FASTKD2-related infantile mitochondrial encephalomyopathy


name: Van den Ende-Gupta syndrome, non-human animal

description: Van den Ende-Gupta syndrome that occurs in non-human animals.


osteogenesis imperfecta, type 18

description: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).


name: glutathione synthetase deficiency without 5-oxoprolinuria


primary lymphoma of the conjunctiva

description: Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.


name: non-syndromic metopic and sagittal craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type


name: hypertrophic cardiomyopathy, Rhesus monkey

description: Hypertrophic cardiomyopathy that occurs in Rhesus monkey.


microcephaly-cardiomyopathy syndrome

description: A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.


description: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


ventricular tachycardia, familial

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


Proteus-like syndrome

description: Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.


bilateral frontoparietal polymicrogyria

description: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.


name: partial duplication of the long arm of chromosome 3

description: Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


name: acrofacial dysostosis, Kennedy-Teebi type

description: Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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


supine hypotensive syndrome

description: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


name: syndromic X-linked intellectual disability Siderius type


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


amnionitis

description: Inflammation of the amnion.


penile sarcoma

description: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.


enterobiasis

description: An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


description: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.


craniolenticulosutural dysplasia

description: Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.


valvar pulmonary stenosis

description: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


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

description: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.


ameloblastoma, non-human animal

description: Ameloblastoma that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 90


name: spastic paraplegia 86, autosomal recessive


vitiligo, water buffalo

description: Vitiligo that occurs in water buffalo.


name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


name: intellectual developmental disorder, autosomal recessive 68


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


congenital myopathy, Paradas type

description: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.


near-fatal asthma

description: An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.


neuritis of upper limb

description: A neuritis that involves the forelimb.


iatrogenic disease, non-human animal

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


name: Ambras type hypertrichosis universalis congenita

description: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.


name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


non specific chronic endometritis

description: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.


name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


myopathy, distal, 5

description: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


escherichia coli discitis

description: Discitis caused by infection with Escherichia coli.


name: colorectal cancer, susceptibility to, 11


name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


inherited epidermolysis bullosa

description: Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


name: combined hyperactive dysfunction syndrome of the cranial nerves


immunodeficiency 47

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.


ocular vascular disorder

description: A disorder that is caused by pathologic changes in the ocular vasculature.


interventricular septum aneurysm

description: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.


name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

description: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


name: autosomal recessive nonsyndromic hearing loss 102

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


name: neurodevelopmental disorder with hypotonia and gross motor and speech delay


brachial amyotrophic diplegia

description: A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.


hemophilia B, dog

description: Hemophilia B that occurs in dog.


early onset hypertension

description: A form of hypertension with early onset relative to normal range for a given population.


isolated congenital alacrima

description: Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.


name: partial trisomy of the long arm of chromosome 18


name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


name: colorectal cancer, susceptibility to, 10

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.


name: neurodevelopmental disorder with epilepsy and brain atrophy


factor XII deficiency, non-human animal

description: Factor XII deficiency that occurs in non-human animals.


name: peroxisome biogenesis disorder 4A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


17q11.2 microduplication syndrome

description: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


Schilbach-Rott syndrome

description: Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.


mitochondrial complex III deficiency

description: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).


name: spondyloepiphyseal dysplasia, kondo-fu type


name: leukemia, acute lymphocytic, susceptibility to, 1


corneal dystrophy, Fuchs endothelial, 4

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.


equine neoplasm

description: Neoplasm that occurs in a horse.


erythroid neoplasm

description: A neoplasm affecting cells of the erythroid lineage.


childhood testicular choriocarcinoma

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


name: metachromatic leukodystrophy, late infantile form


myofibrillar myopathy 5

description: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.


name: paternal uniparental disomy of chromosome 1

description: Paternal uniparental disomy of chromosome 1 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.


non-hodgkin lymphoma, non-human animal

description: Non-hodgkin lymphoma that occurs in non-human animals.


Scott Syndrome, non-human animal

description: Scott Syndrome that occurs in non-human animals.


name: SLC10A7-congenital disorder of glycosylation

description: SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.


name: developmental and epileptic encephalopathy, 48

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


name: Nodal T-follicular helper cell lymphoma, follicular type


lepromatous leprosy

description: A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.


Wilms tumor 5

description: Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.


name: isolated bilateral hemispheric cerebellar hypoplasia

description: Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.


name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies


spinocerebellar ataxia type 38

description: Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.


tricho-dento-osseous syndrome

description: Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.


primary ciliary dyskinesia 6

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.


name: RNASEH2A-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Joubert syndrome with ocular defect

description: Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.


name: neurodevelopmental disorder with poor growth and skeletal anomalies


name: spondyloepimetaphyseal dysplasia, aggrecan type

description: A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.


name: intellectual disability, autosomal recessive 56

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.


name: acute myeloid leukemia, t(16;21)(p11;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)


cataract 19 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.


pseudohypoparathyroidism type 2

description: Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.


osteopetrosis, cattle

description: Osteopetrosis that occurs in cattle.


allergic rhinitis, non-human animal

description: Allergic rhinitis that occurs in non-human animals.


CNGB3-related retinopathy

description: A retinopathy caused by biallelic variants in the CNGB3 gene.


name: ciliary dyskinesia, primary, 49, without situs inversus


distal monosomy 13q

description: Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.


gonococcal bursitis

description: An bursitis caused by infection with Neisseria gonorrhoeae.


name: multiple mitochondrial dysfunctions syndrome 3

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


focal segmental glomerulosclerosis 6

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.


caudal regression-sirenomelia spectrum

description: Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.


name: split-foot malformation-mesoaxial polydactyly syndrome


brachydactyly, pig

description: Brachydactyly that occurs in pig.


acquired agranulocytosis

description: Agranulocytosis that is autoimmune in origin.


stromal corneal pigmentation

description: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.


retinal cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.


name: chromosome 19q13.11 deletion syndrome, distal

description: Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.


mycosis fungoides, horse

description: Mycosis fungoides that occurs in horse.


name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

description: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.


name: dyskeratosis congenita, autosomal recessive 6

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.


name: spinal muscular atrophy with congenital bone fractures 2

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.


name: autosomal recessive frontotemporal pachygyria


overnutrition

description: An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.


reciprocal translocation down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.


familial spontaneous pneumothorax

description: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.


bilateral multicystic dysplastic kidney

description: Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.


exercise-induced bronchoconstriction

description: An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.


epilepsy, familial temporal lobe, 1

description: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


acromesomelic dysplasia 2A

description: An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.


retinitis pigmentosa 43

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.


name: granulomatous disease with defect in neutrophil chemotaxis


calciphylaxis cutis

description: Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.


phimosis

description: A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.


X-linked recessive disease

description: X-linked recessive form of disease.


ATTRV30M amyloidosis

description: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.


name: congenital myopathy 2c, severe infantile, autosomal dominant


Tay-Sachs disease AB variant

description: GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.


name: limbic encephalitis with caspr2 antibodies

description: Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.


name: polymicrogyria, bilateral perisylvian, autosomal recessive


atrophic rhinitis, non-human animal

description: Atrophic rhinitis that occurs in non-human animals.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.


description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.


name: chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


benign struma ovarii

description: A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.


episodic ataxia type 5

description: Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.


acute gonococcal salpingitis

description: Acute form of gonococcal salpingitis.


name: neurodevelopmental disorder with or without autism or seizures


description: An epilepsy syndrome that has an onset during the adolescent or adult stage of life.


name: congenital disorder of glycosylation syndrome type 4


name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


eye allergy

description: An allergic disease involving a pathogenic inflammatory response in the camera-type eye.


name: muscle-eye-brain disease with bilateral multicystic leucodystrophy

description: Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.


name: hypomagnesemia, seizures, and intellectual disability 2


name: hypomyelination with brain stem and spinal cord involvement and leg spasticity


name: autosomal recessive nonsyndromic hearing loss 5

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.


mosaic trisomy 9

description: Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.


name: nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


name: cortical dysplasia, complex, with other brain malformations 12


heterotaxy, visceral, 4, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.


nephronophthisis 9

description: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


reticuloendotheliosis, X-linked

description: A greater than normal number of blood cells in the reticuloendothelial system.


semantic agnosia

description: An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.


name: myeloproliferative disease, autosomal recessive


geleophysic dysplasia 1

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


combat disorder

description: Neurotic reactions to unusual, severe, or overwhelming military stress.


name: developmental and epileptic encephalopathy, 79


name: developmental and epileptic encephalopathy, 40

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


name: medulloblastoma SHH activated and TP53 wild-type

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.


name: lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy


polycythemia due to hypoxia

description: Polycythemia resulting from hypoxia.


congenital coronary artery aneurysm

description: Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.


retinoschisis, dog

description: Retinoschisis that occurs in dog.


congenital myopathy 23

description: Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.


name: intellectual disability, autosomal recessive 60


skin lipoma

description: A benign or malignant adipose tissue neoplasm of the skin.


zoster sine herpete

description: Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.


urolithiasis, Francois's langur

description: Urolithiasis that occurs in Francois's langur.


muscular dystrophy, sheep

description: Muscular dystrophy that occurs in sheep.


name: neurodevelopmental disorder with or without seizures and gait abnormalities


name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


aerobic Actinomyces infection

description: Infection with the less common aerobic antinomyces bacteria.


name: prostate cancer/brain cancer susceptibility


agnathia-otocephaly complex

description: Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.


name: autosomal dominant nonsyndromic hearing loss 66

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


hymen, imperforate, non-human animal

description: Hymen, imperforate that occurs in non-human animals.


acromesomelic dysplasia

description: A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type


19p13.12 microdeletion syndrome

description: 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


glomerulonephritis, domestic cat

description: Glomerulonephritis that occurs in domestic cat.


Adams-Oliver syndrome 5

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.


name: conductive deafness-ptosis-skeletal anomalies syndrome

description: Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.


mosquito-borne viral encephalitis

description: Viral encephalitis that is transmitted by mosquitos.


body-stalk anomaly

description: A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.


name: autosomal recessive nonsyndromic hearing loss 42

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


spermatogenic failure 5

description: Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


coloboma, snow leopard

description: Coloboma that occurs in snow leopard.


nephronophthisis 14

description: Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.


name: neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


leukocyte disorder

description: A disease involving leukocytes.


name: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


11p15.4 microduplication syndrome

description: 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.


name: Ullrich congenital muscular dystrophy 1A


primary syphilis

description: The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.


malignant tumor of adrenal cortex

description: A cancer that involves the adrenal cortex.


name: autosomal recessive spinocerebellar ataxia 11

description: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.


vibratory angioedema

description: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


dystonia 23

description: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


desmoplastic spitz nevus

description: A Spitz nevus associated with fibrous stroma formation.


name: Ehlers-Danlos syndrome, musculocontractural type 2

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


distal trisomy 5q

description: Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).


tooth resorption

description: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)


name: circadian rhythm sleep disorder, advanced sleep phase type

description: A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.


cataract 1 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.


toluene embryopathy

description: Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.


MRI defined brain infarct

description: An infarct detected by MRI and not determined to be clinically significant


name: transient neonatal multiple acyl-CoA dehydrogenase deficiency

description: Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome


name: chondroectodermal dysplasia with night blindness

description: Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.


familial hyperaldosteronism type II

description: Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.


name: developmental and epileptic encephalopathy, 3

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


Juberg-Hayward syndrome

description: Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy


description: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.


name: erythrokeratodermia variabilis et progressiva 1


hereditary spastic paraplegia 52

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome

description: Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.


root resorption

description: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)


classic congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.


microform holoprosencephaly

description: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


orofaciodigital syndrome III

description: Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.


description: Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.


name: split-hand/foot malformation with long bone deficiency 1


pulmonary artery leiomyosarcoma

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


pulmonary nodular lymphoid hyperplasia

description: Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.


3MC syndrome

description: 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.


environmental induced asthma

description: An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.


vesicoureteral reflux 2

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


herpes simplex infectious disease

description: A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)


gingival disorder

description: A disease involving the gingiva.


herpes zoster with dermatitis of eyelid

description: A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.


melanotic medulloblastoma

description: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


atrial septal defect, cattle

description: Atrial septal defect that occurs in cattle.


name: autosomal dominant cerebellar ataxia type I

description: Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


name: myopathy, centronuclear, 6, with fiber-type disproportion


name: congenital insensitivity to pain with hyperhidrosis


combined ApoA-I and ApoC-III deficiency

description: A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


elephantiasis

description: Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.


name: complete atrioventricular canal-ventricle hypoplasia syndrome


lymphatic malformation 4

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


urban-Rogers-Meyer syndrome

description: This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.


name: palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

description: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.


ulnar hemimelia

description: Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.


name: severe phosphoribosylpyrophosphate synthetase superactivity

description: Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.


age related macular degeneration 6

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


factor XI deficiency, dog

description: Factor XI deficiency that occurs in dog.


name: glucocorticoid resistance, non-human animal

description: Glucocorticoid resistance that occurs in non-human animals.


coloboma, horse

description: Coloboma that occurs in horse.


description: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.


name: autosomal recessive nonsyndromic hearing loss 124


Usher syndrome type 1B

description: Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene


name: fibrosis of extraocular muscles, congenital, 3c


name: isolated unilateral hemispheric cerebellar hypoplasia

description: Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.


retinitis pigmentosa 30

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


name: hyper-IgE recurrent infection syndrome 4A, autosomal dominant

description: An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.


name: lipodystrophy due to peptidic growth factors deficiency

description: Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).


Holzgreve-Wagner-Rehder syndrome

description: A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.


endometrial type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.


spitz nevus

description: A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.


German syndrome

description: German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.


CNGB1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.


Foster-Kennedy syndrome

description: An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.


name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.


name: hyper-IgE syndrome 6, autosomal dominant, with recurrent infections


name: Niemann-Pick disease type C, late infantile neurologic onset


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


name: neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


fetal akinesia deformation sequence 2

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.


name: microphthalmia, isolated, with cataract 1


name: autosomal recessive nonsyndromic hearing loss 71

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.


name: benign familial nocturnal alternating hemiplegia of childhood

description: Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.


nephrotic syndrome, type 11

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.


name: microcephaly 28, primary, autosomal recessive


spindle cell oncocytoma

description: A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.


name: MELAS syndrome caused by mutation in MTTL1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.


cerebrooculonasal syndrome

description: Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.


name: Wolff-Parkinson-White syndrome, non-human animal

description: Wolff-Parkinson-White syndrome that occurs in non-human animals.


name: hypopigmentation-punctate palmoplantar keratoderma syndrome


nasopharyngeal diphtheria

description: Infection of the nasopharynx by Corynebacterium diphtheriae.


form agnosia

description: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.


posterior cerebral artery infarction

description: Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).


name: mitochondrial DNA deletion syndrome with progressive myopathy


metabolic disease

description: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.


tetrasomy 21

description: Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.


cranioectodermal dysplasia 3

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.


name: immunodeficiency 113 with autoimmunity and autoinflammation


name: odontochondrodysplasia 2 with hearing loss and diabetes


atherosclerosis, domestic cat

description: Atherosclerosis that occurs in domestic cat.


name: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

description: An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).


name: MELAS syndrome caused by mutation in MTTS1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.


name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


optic atrophy 11

description: Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.


bullous impetigo

description: Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.


name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma

description: A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.


name: neuropathy, congenital hypomyelinating, 2


immunodeficiency 81

description: A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.


spermatogenic failure 11

description: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


upper limb mononeuronitis

description: A disease affecting a single peripheral nerve of the upper limb.


striated muscle rhabdoid tumor

description: A rhabdoid tumor that involves the striated muscle tissue.


name: inborn disorder of aspartate family metabolism

description: An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.


alkaptonuria, non-human animal

description: Alkaptonuria that occurs in non-human animals.


rheumatoid arthritis, dog

description: Rheumatoid arthritis that occurs in dog.


isolated aniridia

description: Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.


protein-losing enteropathy, dog

description: Protein-losing enteropathy that occurs in dog.


RAD51D-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


mixed-type autoimmune hemolytic anemia

description: Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.


benign conjunctival neoplasm

description: Abnormal growth of the cells of the conjunctiva without malignant characteristics.


Usher syndrome type 1E

description: A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.


name: pterygium colli-intellectual disability-digital anomalies syndrome

description: Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.


Leber congenital amaurosis 7

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


name: short-rib thoracic dysplasia 19 with or without polydactyly


name: intellectual disability, autosomal recessive 52

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


alpha-mannosidosis, domestic cat

description: Alpha-mannosidosis that occurs in domestic cat.