deletion 5q35

description: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


laterality defects, autosomal dominant

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


sunburn

description: An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.


name: partial deletion of the short arm of chromosome 16


name: peritoneal well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.


scoliosis, non-human animal

description: Scoliosis that occurs in non-human animals.


pulmonary branch stenosis

description: Narrowing of the lumen of the right or left pulmonary artery branch.


malignant histiocytosis, cattle

description: Malignant histiocytosis that occurs in cattle.


pachyonychia congenita 4

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


systemic mycosis

description: A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.


thyroid dyshormonogenesis 6

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


orofaciodigital syndrome VIII

description: Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.


description: Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.


name: hair defect with photosensitivity and intellectual disability syndrome

description: Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.


prosopagnosia, hereditary

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


allergic asthma

description: A asthma with a basis in a pathological type I hypersensitivity reaction.


name: cone-rod synaptic disorder, congenital nonprogressive


name: myeloid leukemia associated with down syndrome

description: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.


microphthalmia, sheep

description: Microphthalmia that occurs in sheep.


name: congenital disorder of glycosylation, type IIq


name: early-onset calcifying leukoencephalopathy-skeletal dysplasia


name: maternal uniparental disomy of chromosome 9

description: Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


familial goiter, golden hamster

description: Familial goiter that occurs in golden hamster.


name: glaucoma with elevated episcleral venous pressure


name: isolated congenital nasal pyriform aperture stenosis


spina bifida, domestic cat

description: Spina bifida that occurs in domestic cat.


peritoneal multicystic mesothelioma

description: A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.


protozoan infections, animal

description: Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.


name: mitochondrial complex III deficiency nuclear type 1

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


description: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.


hydranencephaly, cattle

description: Hydranencephaly that occurs in cattle.


cervix melanoma

description: An aggressive malignant tumor of melanocytic origin that arises from the cervix.


internal hirudiniasis

description: A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.


name: ocular melanoma with extraocular extension

description: A melanoma arising from and extending beyond the structures of the eye.


name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features


acquired pituitary hormone deficiency

description: An instance of hypopituitarism that is acquired during the lifetime of the individual.


Dictyocaulus infectious disease

description: Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.


Kandori fleck retina

description: Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


GM1 gangliosidosis type 1

description: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


hypoparathyroidism, domestic cat

description: Hypoparathyroidism that occurs in domestic cat.


neonatal lupus erythematosus

description: A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.


name: intermediate collagen VI-related muscular dystrophy

description: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.


vestibulocochlear nerve disorder

description: A disease involving the vestibulocochlear nerve.


Meckel syndrome, type 6

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


skin infection

description: An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.


name: anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

description: A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.


amelogenesis imperfecta type 1F

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


orofaciodigital syndrome type II

description: Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.


high output heart failure

description: High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.


name: cerebellar atrophy with seizures and variable developmental delay


spinocerebellar ataxia type 36

description: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


name: lethal short-limb skeletal dysplasia, Al Gazali type


canine distemper

description: A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.


grade II meningioma

description: An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.


gram-negative bacterial infections

description: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.


postpoliomyelitis syndrome

description: Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.


Carney complex, type 1

description: Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.


orofaciodigital syndrome type 12

description: Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.


name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


polycystic kidney disease, dog

description: Polycystic kidney disease that occurs in dog.


amelogenesis imperfecta, type 3A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.


Abruzzo-Erickson syndrome

description: Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.


testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.


name: vasculitis, lymphocytic, cutaneous small vessel


inborn metal metabolism disorder

description: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.


cranio-osteoarthropathy

description: Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.


extracutaneous mastocytoma

description: A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003


spinocerebellar ataxia type 29

description: Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.


Epstein-Barr virus infection

description: An infection that is caused by Epstein-Barr virus.


inherited prekallikrein deficiency

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


name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

description: A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.


name: basal cell carcinoma, susceptibility to, 7

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


talo-patello-scaphoid osteolysis

description: Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


stromal corneal dystrophy

description: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


name: intellectual developmental disorder with macrocephaly, seizures, and speech delay


platelet-type bleeding disorder 9

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


split hand

description: Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


name: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


cerebral arterial disease

description: Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.


name: spastic ataxia-dysarthria due to glutaminase deficiency


name: qualitative or quantitative defects of gamma-sarcoglycan


disorder of GNAS inactivation

description: Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).


hypoalphalipoproteinemia, primary, 1

description: Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.


methanol poisoning

description: Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).


hyperparathyroidism, dog

description: Hyperparathyroidism that occurs in dog.


isolated glycerol kinase deficiency

description: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).


idiopathic bilateral vestibulopathy

description: Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.


name: genital herpes simplex type 2 infectious disorder

description: Any herpes simplex type 2 infectious disease that involves the genitals.


name: developmental and epileptic encephalopathy, 11

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


Mendelian encephalopathy

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


feline oral squamous cell carcinoma

description: Oral squamous cell carcinoma that occurs in a cat.


name: cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay


name: muscular dystrophy, congenital, with or without seizures


aleutian mink disease, human

description: A human disease caused by infection with Aleutian mink disease parvovirus.


ostertagiasis

description: A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.


familial goiter, cattle

description: Familial goiter that occurs in cattle.


congenital laryngeal palsy

description: Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.


name: telangiectasia, hereditary hemorrhagic, type 5

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


name: inflammatory bowel disease, immunodeficiency, and encephalopathy


name: premature aging syndrome, non-human animal

description: Premature aging syndrome that occurs in non-human animals.


split hand, unilateral

description: Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


name: maternal uniparental disomy of chromosome 22


name: tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities


carpotarsal osteochondromatosis

description: Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


name: myopathy, congenital, with respiratory insufficiency and bone fractures


renal hypodysplasia/aplasia 2

description: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy chain deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


Fitz-Hugh-Curtis syndrome

description: Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.


cutaneous solitary mastocytoma

description: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.


spastic monoplegia

description: A spastic cerebral palsy that affects only one limb.


name: metachromatic leukodystrophy, juvenile form

description: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


name: ectrodactyly and ectodermal dysplasia without cleft lip/palate


eastern equine encephalitis

description: Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.


name: spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


name: proximal chromosome 18q deletion syndrome

description: Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.


cryptococcosis

description: An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004


vascular malformation

description: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.


ophthalmomandibulomelic dysplasia

description: Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.


2q23.1 microduplication syndrome

description: 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.


Perrault syndrome

description: Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.


pineal region meningioma

description: A meningioma that affects the pineal gland.


hamel cerebro-palato-cardiac syndrome

description: Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


name: acute myeloid leukemia with t(6;9)(p23;q34)

description: Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.


name: qualitative or quantitative defects of alpha-sarcoglycan


name: ophthalmoplegic neuromuscular disorder with abnormal mitochondria


lichen planus pigmentosus

description: Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.


name: acute myeloid leukemia with mutated NPM1

description: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.


name: erythrokeratodermia variabilis et progressiva 5


name: combined immunodeficiency due to partial RAG1 deficiency

description: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


disorder of methylamine metabolism

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


ABCD syndrome

description: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).


diabetic peripheral angiopathy

description: Diabetic angiopathy is a form of angiopathy associated with diabetic complications.


osteogenesis imperfecta type 17

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


protein-energy malnutrition

description: A nutritional deficit that is caused by inadequate protein or calorie intake.


urolithiasis, domestic cat

description: Urolithiasis that occurs in domestic cat.


name: intellectual disability, autosomal recessive 53


vitelliform macular dystrophy 4

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


xeroderma pigmentosum group G

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


name: neurologic disease, infantile multisystem, with osseous fragility


hepatic coma

description: A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)


autosomal genetic disease

description: A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


pyeloureteritis cystica

description: A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall.  It is caused by inflammation due to urinary tract stones or infection.


limited dorsal myeloschisis

description: A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.


osteochondrosis, dog

description: Osteochondrosis that occurs in dog.


GNE myopathy

description: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


laryngitis

description: An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.


name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


radiation-induced disorder

description: A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.


name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


primary ciliary dyskinesia 25

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


autosomal recessive distal titinopathy

description: A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.


tibial hemimelia, cattle

description: Tibial hemimelia that occurs in cattle.


name: Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.


cone-rod dystrophy 18

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


name: Ehlers-Danlos syndrome, dermatosparaxis type

description: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.


name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


thrombocytopenia 4

description: Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.


name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


rinderpest

description: A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.


name: congenital absence of both lower leg and foot, bilateral


erythematosquamous dermatosis

description: A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.


anodontia, non-human animal

description: Anodontia that occurs in non-human animals.


name: hereditary leiomyomatosis and renal cell cancer

description: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


interdigitating dendritic cell sarcoma

description: A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)


osteogenic neoplasm

description: A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


atypical polypoid adenomyoma

description: An adenomyoma characterized by the presence of marked glandular architectural complexity.


letterer-Siwe disease

description: A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.


nemaline myopathy 6

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


malignant renal pelvis neoplasm

description: A primary or metastatic malignant neoplasm that affects the renal pelvis.


congenital toxoplasmosis

description: Toxoplasma infection that is present from birth.


name: Leydig cell hypoplasia due to complete LH resistance


name: maternal uniparental disomy of chromosome 20

description: Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


name: combined oxidative phosphorylation deficiency 34


staphylococcus aureus infection

description: An infectious process in which the bacteria Staphylococcus aureus is present.


spinal muscular atrophy, type III

description: Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


name: disorder of carbohydrate transmembrane transport and absorption


Pthirus pubis infestation

description: Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.


name: von Willebrand disease (hereditary or acquired)

description: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.


ADAR-related type 1 interferonopathy

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


name: blepharophimosis-epicanthus inversus-ptosis due to copy number variations

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.


name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome


name: megaconial type congenital muscular dystrophy


heartwater disease

description: A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.


botryomycosis

description: A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.


name: sulfide quinone oxidoreductase deficiency


name: hypophosphatemia, renal, with intracerebral calcifications


primary orthostatic hypotension

description: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.


parneoplastic endocrine syndrome

description: Paraneoplastic syndrome that involves the endocrine system.


achondrogenesis type IA

description: Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


GNPTG-mucolipidosis

description: A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


polydactyly, horse

description: Polydactyly that occurs in horse.


herpangina

description: A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.


atypical lipomatous tumor

description: An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.


name: thyroid hormone plasma membrane transport defect


name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

description: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


combined PSAP deficiency

description: Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


acquired hemoglobinopathy

description: An instance of hemoglobinopathy that is acquired during the lifetime of the individual.


hereditary von Willebrand disease

description: Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).


humeral agenesis/hypoplasia

description: Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.


non-histaminic angioedema

description: Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


chicken lymphoma

description: Lymphoma that occurs in a chicken.


name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


X-linked spinocerebellar ataxia type 4

description: Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.


name: thrombophilia, X-linked, due to factor 9 defect

description: A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).


pediatric meningioma

description: A meningioma that occurs during childhood.


neuronal ceroid lipofuscinosis 11

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


focal facial dermal dysplasia type III

description: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


sterol carrier protein 2 deficiency

description: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


name: short stature-wormian bones-dextrocardia syndrome

description: Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.


name: congenital disorder of deglycosylation 1

description: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


name: leukoencephalopathy with bilateral anterior temporal lobe cysts

description: Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.


childhood onset asthma

description: Asthma that starts in childhood.


name: mitochondrial complex 4 deficiency, nuclear type 14


inhalational anthrax

description: A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.


name: intellectual disability, autosomal dominant 33

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


congenital stromal corneal dystrophy

description: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


Zika virus congenital syndrome

description: A congenital birth syndrome that arises from materal Zika infection.


description: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.


dentinogenesis imperfecta type 2

description: Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.


name: infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

description: A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.


moderately severe hemophilia A

description: Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


name: glutamic acid decarboxylase, brain, membrane form


hereditary spastic paraplegia 10

description: Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.


BBS9-related ciliopathy

description: Any ciliopathy caused by variants in the BBS9 gene.


spondylocostal dysostosis 5

description: Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.


glucocorticoid deficiency 2

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


amelia of lower limb

description: A non-syndromic amelia that involves the hindlimb.


name: central polydactyly of fingers, bilateral


alveolar periostitis

description: A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)


name: bundle branch block, familial isolated complete right


granular corneal dystrophy type I

description: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome

description: PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.


name: spondylocostal dysostosis, autosomal recessive, dog

description: Spondylocostal dysostosis, autosomal recessive that occurs in dog.


benign neoplasm of meninges

description: A benign neoplasm that involves the meningeal cluster.


congenital myasthenic syndrome 16

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


HIV enteropathy

description: A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin D-dependent rickets, type 2A

description: Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.


pulmonary artery coming from the aorta

description: Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.


name: antithrombin, familial hemorrhagic diathesis due to


Duchenne muscular dystrophy

description: Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

description: B-lymphoblastic leukemias/lymphomas characterized by the presence of recurring cytogenetic and/or molecular abnormalities.


disorder of bile acid aminotransferase

description: Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


isolated congenital entropion

description: A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


name: familial steroid-resistant nephrotic syndrome with sensorineural deafness


name: macrothrombocytopenia, isolated, 2, autosomal dominant


lethal faciocardiomelic dysplasia

description: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


hypoplasminogenemia

description: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.


name: neurodegeneration with brain iron accumulation 9


meningoencephalitis

description: Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.


name: intellectual disability, autosomal dominant 1

description: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.


peritoneum cancer

description: A malignant neoplasm involving the peritoneum


monkey disease

description: Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).


description: A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


anterior optic tract meningioma

description: A meningioma that affects the anterior visual pathway.


orbital granuloma

description: A granuloma located on the orbit of the eye.


name: immunodeficiency, common variable, due to APRIL deficiency

description: Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.


benign Samaritan congenital myopathy

description: Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.


name: oligoarticular juvenile idiopathic arthritis

description: Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.


hyperaldosteronism, domestic cat

description: Hyperaldosteronism that occurs in domestic cat.


non-syndromic brachydactyly of fingers

description: A non-syndromic brachydactyly that involves the manus.


AA amyloidosis, cheetah

description: AA amyloidosis that occurs in cheetah.


name: calvarial doughnut lesions-bone fragility syndrome

description: This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.


name: chorea, childhood-onset, with psychomotor retardation


name: intellectual disability, autosomal recessive 16


distal monosomy 1q

description: 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.


name: early-onset pulmonary and cutaneous vasculitis

description: A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.


alcohol and nicotine codependence

description: A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


thyroid dyshormonogenesis 4

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.


Cenani-Lenz syndactyly syndrome

description: Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


name: autosomal recessive nonsyndromic hearing loss 37

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


soft tissue chondroma

description: A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.


neurolymphomatosis

description: A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.


tooth agenesis, selective, 3

description: Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.


FRAXE intellectual disability

description: A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.


name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

description: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).


B-cell adult acute lymphocytic leukemia

description: An acute B-lymphoblastic leukemia occurring in adults.


name: focal palmoplantar and gingival keratoderma

description: Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.


primary ciliary dyskinesia 5

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


name: disease related to hematopoietic stem cell transplant

description: Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.


name: carnitine palmitoyl transferase II deficiency, neonatal form

description: The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


Mycoplasma encephalitis

description: Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).


name: mullerian duct anomalies-limb anomalies syndrome

description: Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.


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


benign neoplasm of testis

description: A benign neoplasm that involves the testis.


name: focal palmoplantar keratoderma with joint keratoses


Cornelia de Lange syndrome 4

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


name: hypogonadotropic hypogonadism 22 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome


premature closure of the arterial duct

description: Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.


brainstem neoplasm

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


Bannayan-Riley-Ruvalcaba syndrome

description: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


name: porencephaly-cerebellar hypoplasia-internal malformations syndrome

description: Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.


name: congenital dyserythropoietic anemia type 2

description: Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


name: MELAS syndrome caused by mutation in MTND1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.


mast cell neoplasm

description: A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


heart aneurysm

description: A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.


Czeizel-Losonci syndrome

description: Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.


name: malignant dysgerminomatous germ cell tumor of ovary

description: Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.


true unicornuate uterus

description: True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.


name: DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


ovarian hyperstimulation syndrome

description: A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.


name: neurodevelopmental disorder plus optic atrophy


name: undetermined early-onset epileptic encephalopathy

description: A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.


cataract 37

description: A cataract that has material basis in variation in the region 12q24.2-q24.3.


Brazilian hemorrhagic fever

description: Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.


familial temporal lobe epilepsy 8

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


name: autosomal dominant nonsyndromic hearing loss 30

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.


description: Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.


malignant cornea melanoma

description: A melanoma within the cornea of the eye.


macular degeneration, age-related, 3

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


name: developmental and epileptic encephalopathy, 19

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


acquired prothrombin deficiency

description: An instance of prothrombin deficiency that is acquired during the lifetime of the individual.


Lujo hemorrhagic fever

description: Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


Bardet-Biedl syndrome 10

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.


renal-hepatic-pancreatic dysplasia 1

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.


name: intellectual disability, autosomal dominant 10

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


osteochondrosis, non-human animal

description: Osteochondrosis that occurs in non-human animals.


Dent disease type 2

description: Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


strabismus, domestic cat

description: Strabismus that occurs in domestic cat.


isolated osteopoikilosis

description: A osteopoikilosis (disease) that is not part of a larger syndrome.


name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


GNPTAB-mucolipidosis

description: An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


name: early-onset autoimmune disorder due to DOCK11 partial deficiency


amyotrophic lateral sclerosis type 16

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


name: epidermolysis bullosa, junctional 5A, intermediate


name: Pelizaeus-Merzbacher disease in female carriers

description: Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


name: developmental delay with hypotonia, myopathy, and brain abnormalities


keratosis palmoplantaris striata 2

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.


asphyxiating thoracic dystrophy 2

description: Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


malignant teratoma

description: A malignant form of teratoma.


X-linked dominant disease

description: X-linked dominant form of disease.


ring chromosome 19

description: Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.


name: intellectual developmental disorder, autosomal recessive 79


progressive bulbar palsy of childhood

description: A progressive bulbar palsy of childhood that occurs during childhood.


lentigo

description: A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.


Joubert syndrome 13

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.


name: spinocerebellar ataxia with rigidity and peripheral neuropathy


name: noduli Cutanei, multiple, with urinary tract abnormalities


wandering spleen

description: A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


name: midface hypoplasia, obesity, developmental delay, and neonatal hypotonia


name: B-lymphoblastic leukemia/lymphoma with hypodiploidy

description: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


preeclampsia/eclampsia 4

description: Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


arteriosclerosis obliterans

description: Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.


name: asynchronous multifocal osteogenic sarcoma

description: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.


name: congenital herpes simplex virus infection

description: Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.


name: extensive peripapillary myelinated nerve fibers


mandibulofacial dysostosis, cattle

description: Mandibulofacial dysostosis that occurs in cattle.


name: orthostatic hypotensive disorder, Streeten type


hypercalcemic sarcoidosis

description: Sarcoidosis with a complication of hypercalcemia.


name: neurodegeneration with brain iron accumulation 2A

description: A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


RAB28-related retinopathy

description: A retinopathy caused by biallelic variants in the RAB28 gene.


necrotizing ulcerative gingivitis

description: A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.


name: malignant germ cell tumor of cervix uteri

description: A malignant germ cell tumor that involves the uterine cervix.


spinal accessory nerve neoplasm

description: A neoplasm involving a accessory XI nerve spinal component.


name: cardiomyopathy and deafness due to tRNA lysine gene mutation

description: A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.


name: granulomatous disease, chronic, autosomal recessive, 5


Israeli tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


papular elastorrhexis

description: An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.


chromosome 18 disorder

description: Chromosomal disorder in which chromosome 18 is affected.


glucose transport disorder

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


name: spondylometaphyseal dysplasia, Czarny-Ratajczak type


name: facio skeletal genital syndrome rippberger type


vaginal cancer

description: A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


Dandy-Walker syndrome, sheep

description: Dandy-Walker syndrome that occurs in sheep.


name: muscular dystrophy, limb-girdle, autosomal dominant 4


name: corneal dystrophy-perceptive deafness syndrome

description: Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.


name: lissencephaly with cerebellar hypoplasia

description: Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.


name: Osebold skeletal dysplasia/osteolysis syndrome


acquired adrenogenital syndrome

description: An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.


prostate angiosarcoma

description: A malignant vascular neoplasm arising from the prostate.


indeterminate dendritic cell tumor

description: A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


name: Angelman syndrome due to a point mutation


name: psoriasis-related juvenile idiopathic arthritis

description: Childhood arthritis typically associated with psoriasis.


Hypoglossia-hypodactyly syndrome

description: A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.


description: This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.


name: florid cystic endosalpingiosis of the uterus


malposition of the coronary ostium

description: Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.


feline erythroleukemia

description: Erythroleukemia that occurs in a cat.


caveolinopathy

description: A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals


name: intellectual disability, X-linked, syndromic, Bain type

description: An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


RNU4ATAC spectrum disorder

description: A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.


subclavian artery aneurysm

description: A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.


congenital portosystemic shunt

description: Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.


philophthalmiasis

description: A disease caused by infection with Philophthalmus.


refractory malignant neoplasm

description: A malignant neoplasm that does not respond to treatment.


name: intra-abdominal lymph node mast cell malignancy


Summitt syndrome

description: Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.


humero-radio-ulnar synostosis

description: Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.


heterotaxy, visceral, 5, autosomal

description: Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


biotin metabolic disease

description: A deficiency in biotin through either inherited or acquired causes.


retinitis pigmentosa 45

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


urolithiasis, domestic guinea pig

description: Urolithiasis that occurs in domestic guinea pig.


non-gestational choriocarcinoma

description: A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


acute sphenoidal sinusitis

description: Acute form of sphenoid sinusitis.


blepharocheilodontic syndrome

description: An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.


dermo-odonto dysplasia

description: Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.


neuroectodermal-endocrine syndrome

description: Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.


description: A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


hereditary spastic paraplegia 46

description: A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


Löfgren syndrome

description: A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


tendon sheath disorder

description: A disease that involves the tendon sheath.


name: autosomal dominant nonsyndromic hearing loss 3A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


dysbaric osteonecrosis

description: A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.


extramedullary conus spinal cord lipoma

description: A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.


frontofacionasal dysplasia

description: Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


name: autosomal recessive distal osteolysis syndrome

description: Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


dedifferentiated solitary fibrous tumor

description: A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.


name: neuronopathy, distal hereditary motor, type 2D

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


name: developmental and epileptic encephalopathy, 60


hemimelia

description: Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


name: qualitative or quantitative defects of telethonin


name: partial duplication of the long arm of chromosome 7

description: Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


name: myoclonic encephalopathy in non-progressive disorder

description: This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


nerve root neoplasm

description: Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.


name: transient congenital hypothyroidism due to neonatal factor


systemic lupus erythematosus, dog

description: Systemic lupus erythematosus that occurs in dog.


leishmaniasis

description: Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).


name: hereditary sensory and autonomic neuropathy type 6

description: Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.


name: acute intermittent porphyria, non-human animal

description: Acute intermittent porphyria that occurs in non-human animals.


name: skin fragility-woolly hair-palmoplantar keratoderma syndrome


name: 2-methylacetoacetyl CoA thiolase deficiency


capillary disorder

description: A disease involving a capillary.


Hodgkin's lymphoma, mixed cellularity

description: A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)