name: acquired thrombotic thrombocytopenic purpura

description: Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


major affective disorder 3

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


lymphangiosarcoma, dog

description: Lymphangiosarcoma that occurs in dog.


multiminicore myopathy

description: A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


Nathalie syndrome

description: Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.


name: lethal polymalformative syndrome, Boissel type


name: isolated growth hormone deficiency type III


geleophysic dysplasia 2

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


description: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.


Krabbe disease, Rhesus monkey

description: Krabbe disease that occurs in Rhesus monkey.


vaginal adenosarcoma

description: A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.


Bartholin's gland disease

description: A female reproductive system disease that is located in Bartholin's gland.


cerebral amyloid angiopathy, dog

description: Cerebral amyloid angiopathy that occurs in dog.


name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts


familial antiphospholipid syndrome

description: Autosomal dominant form of antiphospholipid syndrome.


name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


Bardet-Biedl syndrome 7

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.


description: Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


symbrachydactyly of hands and feet

description: A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.


classic galactosemia

description: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


name: non-syndromic unicoronal and sagittal craniosynostosis


name: neonatal period electroclinical syndrome

description: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


retinitis pigmentosa Y-linked

description: Y-linked form of retinitis pigmentosa.


sialidosis type 1

description: Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.


gangliosidosis, domestic cat

description: Gangliosidosis that occurs in domestic cat.


GPR179-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.


neurofibromatosis type 1

description: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.


papillary meningioma

description: A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.


name: residual stage corticosteroid-induced glaucoma


name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

description: An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.


congenital urachal anomaly

description: Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.


name: autosomal dominant intermediate Charcot-Marie-Tooth disease

description: Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.


name: succinic semialdehyde dehydrogenase deficiency, dog

description: Succinic semialdehyde dehydrogenase deficiency that occurs in dog.


renal nutcracker syndrome

description: A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.


name: developmental and epileptic encephalopathy 101


metastatic melanoma

description: A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


spermatogenic failure

description: A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.


chronic venous insufficiency

description: Chronic form of venous insufficiency (disease).


name: ectodermal dysplasia with natal teeth, Turnpenny type

description: Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.


name: hydrocephalus, congenital communicating, 1


testicular germ cell tumor

description: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


nerve plexus disorder

description: A disease that involves the nerve plexus.


acute salpingo-oophoritis

description: Acute form of salpingo-oophoritis.


name: spondylometaphyseal dysplasia, Schmidt type

description: Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.


eccrine sweat gland cancer

description: An cancer with eccrine differentiation arising from the sweat glands.B


retinitis pigmentosa 32

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


angiomyomatous hamartoma

description: An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.


name: bone fragility with contractures, arterial rupture, and deafness

description: A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.


cerebral sinovenous thrombosis

description: A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.


name: developmental and epileptic encephalopathy, 78


advanced heart failure

description: Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.


T-B- severe combined immunodeficiency

description: T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


name: posterior polymorphous corneal dystrophy 2

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


name: double outlet right ventricle with subpulmonary ventricular septal defect


nephronophthisis 2

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


myositis ossificans

description: A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.


name: neurodevelopmental disorder with impaired speech and hyperkinetic movements


horse melanoma

description: Melanoma that occurs in a horse.


name: intellectual disability, autosomal recessive 50

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


optic tract meningioma

description: A meningioma that affects the visual pathway.


basidiobolomycosis

description: A disease caused by infection with Basidiobolus.


name: congenital disorder of glycosylation, type IIw


name: dysmorphism-conductive hearing loss-heart defect syndrome

description: A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.


name: intellectual disability-short stature-hypertelorism syndrome

description: Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.


familial pityriasis rubra pilaris

description: A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


name: arthrogryposis, renal dysfunction, and cholestasis 2

description: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.


name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9


name: autosomal dominant osteosclerosis, Worth type

description: A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 3

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


frontorhiny

description: Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.


acquired Creutzfeldt-Jakob disease

description: An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.


phlebitis

description: Inflammation of a vein.


ischemic neuropathy

description: Neuropathy that is caused by inadequate blood supply.


CNS demyelinating autoimmune disease

description: Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.


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

description: An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.


name: microcephalic osteodysplastic dysplasia, Saul-Wilson type

description: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


congenital myasthenic syndrome 3A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.


name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome

description: A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.


carcinosarcoma

description: A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.


ataxic cerebral palsy

description: A form of cerebral palsy caused by damage to cerebellar structures.


coronary restenosis

description: Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.


cadmium poisoning

description: Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.


name: cervical intraepithelial neoplasia grade 2/3

description: A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


name: congenitally uncorrected transposition of the great arteries with cardiac malformation


name: autosomal dominant nonsyndromic hearing loss 18

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.


retinitis pigmentosa 40

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.


name: PLG-related hereditary angioedema with normal C1inh


discharging ear

description: Discharge or drainage of fluid from the ear.


systemic sclerosis

description: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.


Duane syndrome type 1

description: Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.


name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

description: This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).


name: mandibulofacial dysostosis, non-human animal

description: Mandibulofacial dysostosis that occurs in non-human animals.


peroxisome biogenesis disorder 6B

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


hereditary spastic paraplegia 7

description: Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 1

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.


cleft palate, American mink

description: Cleft palate that occurs in American mink.


name: microcephalic primordial dwarfism due to ZNF335 deficiency

description: Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.


name: right superior vena cava connecting to left-sided atrium

description: Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.


name: craniosynostosis intellectual disability heart defects


thrombocytopenia, dog

description: Thrombocytopenia that occurs in dog.


patent urachus, non-human animal

description: Patent urachus that occurs in non-human animals.


name: myasthenic syndrome, congenital, 1B, fast-channel

description: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.


childhood neoplasm

description: A benign or malignant neoplasm arising during childhood.


adrenal cortex disorder

description: A disease involving the adrenal cortex.


name: autosomal recessive nonsyndromic hearing loss 26

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.


thrombocythemia 3

description: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


spinal stenosis, cattle

description: Spinal stenosis that occurs in cattle.


brain neoplasm

description: A neoplasm (disease) that involves the brain.


name: MOGS-congenital disorder of glycosylation

description: MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).


orbital cancer

description: A primary or metastatic malignant neoplasm involving the orbit.


name: hereditary progressive chorea without dementia


benign deep fibrous histiocytoma

description: A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.


benign neoplasm of submandibular gland

description: A benign neoplasm that involves the submandibular gland.


name: ichthyosis, congenital, autosomal recessive 13


tinea corporis

description: A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.


ring chromosome 15

description: Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.


name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


Imerslund-Grasbeck syndrome

description: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


extraosseous osteosarcoma

description: An osteosarcoma arising from the soft tissue.


vulvar alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the vulva.


microcephaly, non-human animal

description: Microcephaly that occurs in non-human animals.


name: bile acid CoA:amino acid N-acyltransferase deficiency

description: Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


immunodeficiency 39

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.


glottis neoplasm

description: A benign or malignant neoplasm that affects the glottic area of the larynx.


hypospadias, sheep

description: Hypospadias that occurs in sheep.


hand-Schuller-Christian disease

description: A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.


name: Niemann-Pick disease type C, severe perinatal form


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


vitiligo, chicken

description: Vitiligo that occurs in chicken.


Krabbe disease

description: A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


Astrakhan spotted fever

description: An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.


disease of orbital part of eye adnexa

description: Diseases of the bony orbit and contents except the eyeball.


mucous membrane pemphigoid

description: Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.


description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.


hereditary macular dystrophy

description: Macular dystrophy that is related to a change in a gene.


name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

description: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


upper digestive tract disorder

description: A disease or disorder that involves the upper digestive tract.


idiopathic aplastic anemia

description: Aplastic anemia without a known cause.


antidepressant type abuse

description: A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.


lethal recessive chondrodysplasia

description: Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.


canine osteosarcoma

description: An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.


pyomyositis

description: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


hantavirus infectious disease

description: Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.


acrofacial dysostosis, Catania type

description: Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.


cone-rod dystrophy 11

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.


name: partial duplication of the long arm of chromosome 10


name: familial episodic pain syndrome with predominantly upper body involvement


choanal atresia, unilateral

description: Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.


name: acute myeloid leukemia with multilineage dysplasia

description: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.


severe hemophilia B

description: Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


parenchymatous neurosyphilis

description: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.


Currarino triad

description: Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).


name: spastic paraplegia, optic atropy, and neuropathy

description: A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.


impetigo

description: A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.


name: disorder of sex development-intellectual disability syndrome

description: A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.


NTRK fusion positive cancer

description: Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.


Dandy-Walker syndrome, non-human animal

description: Dandy-Walker syndrome that occurs in non-human animals.


name: ganglion or cyst of synovium/tendon/bursa


centronuclear myopathy

description: Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.


name: juvenile arthritis due to defect in LACC1


name: peroxisome biogenesis disorder 8A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


Castleman disease

description: Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.


name: neurodevelopmental disorder with microcephaly and structural brain anomalies


name: neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


peroxisome biogenesis disorder 4B

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


Fine-Lubinsky syndrome

description: A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.


nephronophthisis 13

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.


atrial tachycardia

description: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)


renal dysplasia, horse

description: Renal dysplasia that occurs in horse.


trisomy 18

description: Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.


name: blepharophimosis - intellectual disability syndrome, Ohdo type

description: Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.


TH-deficient dopa-responsive dystonia

description: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


name: mitochondrial complex 4 deficiency, nuclear type 7


ventricular septal defect 2

description: Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.


central nervous system chondroma

description: An extraskeletal chondroma usually arising from the dura.


gonococcal seminal vesiculitis

description: A gonorrhea that involves the seminal vesicle.


prostate lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.


name: immunodeficiency 97 with autoinflammation

description: An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.


name: congenital myopathy 21 with early respiratory failure


name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome


name: partial deletion of the short arm of chromosome 19


situs inversus, cattle

description: Situs inversus that occurs in cattle.


cataract 46 juvenile-onset

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.


name: hereditary myopathy with lactic acidosis due to ISCU deficiency

description: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


sphenoid sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.


name: blepharophimosis, ptosis, and epicanthus inversus syndrome

description: Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).


Miyoshi muscular dystrophy 1

description: Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.


demyelinating disease

description: A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.


KIF1A related neurological disorder

description: KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A


name: arthrogryposis, congenital, lower limb, X-linked


Birt-Hogg-Dube syndrome 2

description: Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.


name: Schistosoma intercalatum infectious disease

description: An disease or disorder caused by infection with Schistosoma intercalatum.


maxillary sinus cholesteatoma

description: A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.


sexual sadism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.


paraneoplastic cutaneous syndrome

description: Paraneoplastic syndrome that involves the integumental system.


name: chronic thromboembolic pulmonary hypertension

description: Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.


post-vaccinal encephalitis

description: An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)


athyreosis

description: Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: branchial arch disease, non-human animal

description: Branchial arch disease that occurs in non-human animals.


syndactyly, chicken

description: Syndactyly that occurs in chicken.


name: spastic paraplegia 84, autosomal recessive


name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia


galactosialidosis, dog

description: Galactosialidosis that occurs in dog.


bone remodeling disease

description: A bone disease that results in formation or resorption abnormalities located in bone.


malignant tumor of palpebral epidermis

description: A cancer that involves the skin of eyelid.


name: lipodystrophy, congenital generalized, type 5


name: XY type gonadal dysgenesis-associated anomalies syndrome

description: Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.


name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


name: autosomal systemic lupus erythematosus type 16

description: An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.


spinal muscular atrophy, cattle

description: Spinal muscular atrophy that occurs in cattle.


Fanconi anemia complementation group T

description: Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.


alexia without agraphia

description: Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)


childhood-onset epilepsy syndrome

description: A epilepsy syndrome that occurs during childhood.


lobomycosis

description: A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.


name: intralobar congenital pulmonary sequestration


diffuse leptomeningeal melanocytosis

description: Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.


priapism, dog

description: Priapism that occurs in dog.


name: leukemia, acute lymphocytic, susceptibility to, 2


diphtheritic cystitis

description: A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.


pseudoaminopterin syndrome

description: Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.


idiopathic syringomyelia

description: Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.


name: amyotrophic lateral sclerosis-parkinsonism-dementia complex


name: alpha thalassemia-intellectual disability syndrome type 1

description: Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.


bird disease

description: Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.


superior limbic keratoconjunctivitis

description: Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.


Armfield syndrome

description: X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.


plastic bronchitis

description: A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.


BEST1-related vitreoretinochoroidopathy

description: Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.


name: glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form


deltaretrovirus infections

description: Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).


hereditary neurocutaneous angioma

description: Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.


SCN4A-related channelopathy

description: Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.


name: autosomal recessive complex spastic paraplegia type 9B

description: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


name: alopecia-intellectual disability syndrome 1


dentin dysplasia type II

description: Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.


protoporphyria, chicken

description: Protoporphyria that occurs in chicken.


name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone


orofaciodigital syndrome XI

description: Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.


mitochondrial complex I deficiency

description: A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


acrodermatitis

description: An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.


unilateral focal polymicrogyria

description: Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.


retinitis pigmentosa 72

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.


osteoarthritis, dog

description: Osteoarthritis that occurs in dog.


name: microcephaly 30, primary, autosomal recessive


name: localized dystrophic epidermolysis bullosa

description: A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.


seminoma

description: A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


congenital myasthenic syndrome 2C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


gynatresia

description: A congenital or acquired occlusion of an opening in any part of the female genital tract.


Charcot-Marie-Tooth disease type 4D

description: Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.


dermatophytosis of scalp or beard

description: Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.


Martsolf syndrome 1

description: This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.


leukemia, feline

description: A neoplastic disease of cats frequently associated with feline leukemia virus infection.


name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

description: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.


haemonchiasis

description: Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.


central bilateral macrogyria

description: Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.


name: secondary non-traumatic avascular necrosis


name: qualitative or quantitative defects of protein ZASP


ureter benign neoplasm

description: Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.


steroid lipomatosis

description: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.


oculogyric crisis

description: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


tooth agenesis, selective, 9

description: Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.


name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


name: autosomal recessive congenital ichthyosis 1

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.


name: hypertrophic cardiomyopathy, Arabian camel

description: Hypertrophic cardiomyopathy that occurs in Arabian camel.


subcutaneous mycosis

description: A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.


pseudoprogeria syndrome

description: Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.


reactive thrombocytosis

description: A thrombocytosis caused by an underlying condition, such as an infection.


aplasia cutis-myopia syndrome

description: Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.


Norman-Roberts syndrome

description: Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.


gangliosidosis, cattle

description: Gangliosidosis that occurs in cattle.


name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


diabetic cataract, non-human animal

description: Diabetic cataract that occurs in non-human animals.


stiff skin syndrome, dog

description: Stiff skin syndrome that occurs in dog.


Malan overgrowth syndrome

description: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.


name: partial deletion of the long arm of chromosome 2

description: Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


SF3B4-related acrofacial dysostosis

description: A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.


name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

description: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.


name: desmoid tumor caused by somatic mutation


name: aldosterone-producing adenoma with seizures and neurological abnormalities

description: An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


20p12.3 microdeletion syndrome

description: 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.


intellectual disability, Wolff type

description: Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.


name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


clivus meningioma

description: A meningioma that affects the clivus.


name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails


name: mitochondrial membrane transport disorder


abdominal ectopic pregnancy

description: Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.


congenital right-sided heart lesions

description: Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.


neuroacanthocytosis

description: Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.


name: peroxisome biogenesis disorder 2A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.


name: charcot-marie-tooth disease, axonal, type 2DD


tetanus neonatorum

description: A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.


name: intellectual developmental disorder, X-linked 112


Oliver syndrome

description: Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.


glossopharyngeal motor neuropathy

description: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)


name: orotic aciduria without megaloblastic anemia


name: rhizomelic chondrodysplasia punctata type 3

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.


chromosome 14q11-q22 deletion syndrome

description: 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


reticulohistiocytic granuloma

description: A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003


meningothelial meningioma

description: A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.


name: mitochondrial complex 4 deficiency, nuclear type 11


hyalohyphomycosis

description: An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.


Chediak-Higashi syndrome, domestic cat

description: Chediak-Higashi syndrome that occurs in domestic cat.


vulvar disease

description: A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.


name: acyl-CoA binding domain containing protein 5 deficiency

description: A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


autosomal agammaglobulinemia

description: Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.


endometrial hyperplasia without atypia

description: Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.


name: intellectual developmental disorder with cardiac defects and dysmorphic facies

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.


latent early syphilis

description: Latent syphilis when infection was acquired less than twelve months previously.


osteitis fibrosa

description: A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.


diplegia of upper limb

description: Evidence of diplegia of the upper limbs.


name: erythrokeratodermia variabilis et progressiva 6


name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


logopenic progressive aphasia

description: Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.


name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


name: familial pulmonary arterial hypertension leucopenia and atrial septal defect


name: xerosis and growth failure with immune and pulmonary dysfunction syndrome


neurofibromatosis-Noonan syndrome

description: A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).


name: partial deletion of the long arm of chromosome 4

description: Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


name: epiphyseal dysplasia of femoral head, myopia, and deafness


chromosome 2q32-q33 deletion syndrome

description: 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.


name: autosomal recessive nonsyndromic hearing loss 9

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


osteogenesis imperfecta type 8

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.


cataract 13 with adult I phenotype

description: A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.


variable age onset epilepsy

description: An epilepsy syndrome that has an onset during variable ages and stages of life.


MRCS syndrome

description: MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.


tropical spastic paraparesis

description: Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


lattice corneal dystrophy type I

description: Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.


gonococcal conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.


rete ovarii neoplasm

description: A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.


canine soft tissue sarcoma

description: Soft tissue sarcoma occurring in a dog.


rhinoscleroma

description: A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.


name: trigonocephaly-bifid nose-acral anomalies syndrome

description: Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.


canine mammary adenoma

description: An adenoma arising from the mammary gland of a dog.


endocardial fibroelastosis, tiger

description: Endocardial fibroelastosis that occurs in tiger.


sarcomatosis

description: The occurrence of several sarcomas in different anatomic locations.


name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


name: developmental and epileptic encephalopathy, 38

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


epididymo-orchitis

description: A disorder involving inflammation of the epididymis and testes.


name: palmoplantar keratoderma-spastic paralysis syndrome


name: ectodermal dysplasia 15, hypohidrotic/hair type


name: intellectual disability, autosomal recessive 30


oculodental syndrome, Rutherfurd type

description: Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.


name: deafness, sensorineural, with peripheral neuropathy and arterial disease


name: disorder of neutral amino acid transport

description: An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.


paraneoplastic renal syndrome

description: Paraneoplastic syndrome that involves the renal system.


grade I lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.


name: hidrotic ectodermal dysplasia, Halal type

description: Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.


metachronous kidney Wilms' tumor

description: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.


name: Charcot-Marie-Tooth disease, axonal, Type 2HH


name: disorder of beta and omega amino acid metabolism


mosaic trisomy 12

description: Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.


name: leukoencephalopathy, progressive, infantile-onset, with or without deafness


name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


cervical atypical polypoid adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.


parasympathetic paraganglioma

description: A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.


inferior myocardial infarction

description: Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.


name: Ullrich congenital muscular dystrophy 1C


name: gingival fibromatosis-facial dysmorphism syndrome

description: Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.


name: arteritis, familial granulomatous, with juvenile polyarthritis


tendinosis

description: The chronic degeneration of a tendon without inflammation.


isolated craniosynostosis

description: A craniosynostosis that is not part of a larger syndrome.


cardiomyopathy, salmonids

description: Cardiomyopathy that occurs in salmonids.


inherited pseudohypoaldosteronism

description: A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth


occupation-related stress disorder

description: The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.


subvalvular aortic stenosis, dog

description: Subvalvular aortic stenosis that occurs in dog.


name: microcephaly 12, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.


name: canine teeth, absence of upper permanent


name: generalized epilepsy-paroxysmal dyskinesia syndrome

description: Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


name: cleft lip and palate malrotation cardiopathy


anomaly of the tricuspid valve chordae

description: Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.


PEHO syndrome

description: PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.


alcohol amnestic disorder

description: A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)


name: myasthenic syndrome, congenital, 24, presynaptic


name: moderate multiminicore disease with hand involvement


name: idiopathic non-lupus full-house nephropathy


mosaic trisomy 6

description: Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).


ADULT syndrome

description: ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.


name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome

description: A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.


urolithiasis, llama

description: Urolithiasis that occurs in llama.


name: congenital unilateral pulmonary hypoplasia


maternal phenylketonuria

description: Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.


name: severe congenital hypochromic anemia with ringed sideroblasts

description: STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.


Crane-Heise syndrome

description: A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.


glossopharyngeal neuralgia

description: Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.


name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities


name: pituitary hormone deficiency, combined or isolated, 8


thyroiditis, dog

description: Thyroiditis that occurs in dog.


KID syndrome

description: Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.


name: cerebellar ataxia-ectodermal dysplasia syndrome

description: Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.


Pendred syndrome

description: Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


name: neonatal-onset developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


ventricular septal defect, horse

description: Ventricular septal defect that occurs in horse.


name: non-classic congenital adrenal hyperplasia

description: A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


name: severe combined immunodeficiency due to CARMIL2 deficiency


name: IgG4-related submandibular gland disease

description: A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.


Li-Fraumeni syndrome

description: A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).


Ludwig's angina

description: Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)


endomyometritis

description: An inflammation of the endometrium and the myometrium.


baylisascariasis

description: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.


hypercalcemia, infantile

description: A hypercalcemia disease that occurs between 28 days to one year of life.


acquired skeletal muscle disease

description: An instance of skeletal muscle disease that is acquired during the lifetime of the individual.


name: acute myeloid leukemia, biallelic CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)


name: cerebellar ataxia, benign, with thermoanalgesia


polymyositis, dog

description: Polymyositis that occurs in dog.


ring chromosome 1

description: Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.


name: MELAS syndrome caused by mutation in MTTS2

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


pyknoachondrogenesis

description: Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.


feline histiocytic sarcoma

description: Histiocytic sarcoma occurring in a cat.


cryptorchidism, Arabian camel

description: Cryptorchidism that occurs in Arabian camel.


cerebellopontine angle meningioma

description: A meningioma that affects the cerebellopontine angle.


name: epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive


hypogonadism, dog

description: Hypogonadism that occurs in dog.


familial ossifying fibroma

description: An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.


retinal cell neoplasm

description: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.


name: monoclonal gammopathy of uncertain significance

description: A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.


urea cycle disorder

description: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


functioning endocrine neoplasm

description: A hormone producing endocrine neoplasm, associated with a hormonal syndrome.


thymic neuroendocrine tumor

description: Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.


name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


name: absence of fingerprints-congenital milia syndrome

description: Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.


name: cone dystrophy with supernormal rod response

description: Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.


name: primary familial polycythemia due to EPO receptor mutation

description: Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.


orgasm-induced seizures

description: Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.


acute myeloid leukemia, t(3;5)(q25;q34)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)


name: gamma-amino butyric acid metabolism disorder

description: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.


name: generalized peeling skin syndrome type C


name: mixed epithelioid and spindle cell melanoma

description: A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.


abnormal mineralization disorder

description: A skeletal dysplasia where osteoid becomes calcified.


name: immunodeficiency 91 and hyperinflammation

description: An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.


pontine tegmental cap dysplasia

description: Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.


pemphigus, domestic cat

description: Pemphigus that occurs in domestic cat.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


patterned macular dystrophy 3

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.


name: polydactyly of an index finger, bilateral


Charcot-Marie-Tooth disease type 4

description: Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


name: acute myeloid leukemia with 11q23 abnormalities

description: An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.


name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly