name: brachydactyly-elbow wrist dysplasia syndrome

description: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.


thyroid hypoplasia

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

description: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: idiopathic hypersomnia without long sleep time

description: Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.


torsion dystonia with onset in infancy

description: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome

description: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.


necrotic uveal melanoma

description: A uveal melanoma characterized by the presence of tumor cell necrosis.


clivus chondroid chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.


name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis


fibroepithelial neoplasm

description: A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


psychosocial short stature

description: A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.


Rahman syndrome

description: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).


spastic ataxia 2

description: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.


description: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.


osteogenesis imperfecta type 9

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


name: acute myeloid leukemia, GATA1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)


chicken hepatoma

description: Hepatoma that occurs in a chicken.


short QT syndrome type 3

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.


fingerprint body myopathy

description: Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.


Quinquaud's folliculitis decalvans

description: Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.


name: internal pathological resorption of tooth


Simpson-Golabi-Behmel syndrome type 2

description: Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.


congenital smooth muscle hamartoma

description: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.


name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome


name: autosomal dominant nonsyndromic hearing loss 70

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.


tinea nigra

description: A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.


name: myopathy, myosin storage, autosomal recessive


distal monosomy 12p

description: Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.


superficial corneal dystrophy

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


name: autoimmune disorder of the nervous system

description: A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.


granulocytic sarcoma

description: A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)


name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

description: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.


malignant giant cell tumor

description: A malignant neoplasm characterized by then presence of atypical giant cells.


name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


carcinoid crisis

description: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.


childhood kidney Wilms tumor

description: A Wilms tumor of the kidney which occurs in children.


name: peroxisome biogenesis disorder due to PEX2 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


spinocerebellar ataxia type 21

description: Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.


trisomy 1q

description: Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.


name: hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses


Friedreich ataxia 2

description: Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11


name: macrocephaly/megalencephaly syndrome, autosomal recessive


name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


juvenile spondyloarthropathy

description: A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


vitreous body disorder

description: Any disease affecting the vitreous body of the eye.


epidermal nevus syndrome

description: A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.


name: neuronopathy, distal hereditary motor, type 5C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.


primary ciliary dyskinesia 11

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.


name: neuronopathy, distal hereditary motor, autosomal recessive

description: Autosomal recessive form of distal hereditary motor neuropathy.


autosomal dominant Robinow syndrome

description: Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.


ocular tuberculosis

description: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.


uterine corpus rhabdomyosarcoma

description: A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.


name: granulomatous autoinflammatory syndrome of childhood


name: arterial calcification, generalized, of infancy, 2

description: Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


name: autosomal recessive nonsyndromic hearing loss 51

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.


name: isolated primary pigmented nodular adrenocortical disease


name: intellectual disability, autosomal dominant 40

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.


chester porphyria

description: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.


name: congenital disorder of glycosylation type II

description: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.


chondrocalcinosis 2

description: A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).


Japanese spotted fever

description: A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.


name: spastic diplegia and intellectual disability


name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

description: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.


name: multiple self-healing squamous epithelioma

description: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.


name: arthrogryposis due to muscular dystrophy


name: hypogonadotropic hypogonadism 17 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.


transcobalamin II deficiency

description: Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.


COACH syndrome 1

description: Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.


name: autoimmune disease, multisystem, infantile-onset, 2

description: Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.


name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


benign exophthalmos syndrome

description: Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.


name: spondyloepiphyseal dysplasia tarda, autosomal recessive

description: Autosomal recessive form of spondyloepiphyseal dysplasia tarda.


Arts syndrome

description: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.


chlamydiaceae infections

description: Infections with bacteria of the family CHLAMYDIACEAE.


name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


phonagnosia

description: An agnosia that is a loss of the ability to recognize familiar voices.


name: dermoid or epidermoid cyst of the central nervous system

description: A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.


olfactory nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.


name: polydactyly of a triphalangeal thumb, unilateral


primary polydipsia

description: A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.


salmonid viral hemorrhagic septicemia

description: A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),


name: progressive myoclonic epilepsy with dystonia

description: A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.


name: thygeson superficial punctate keratopathy

description: An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.


13q12.3 microdeletion syndrome

description: 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.


cone-rod dystrophy 8

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.


velocardiofacial syndrome

description: A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.


primary ciliary dyskinesia 33

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.


name: congenital temporomandibular joint ankylosis

description: Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.


name: intellectual developmental disorder and retinitis pigmentosa; IDDRP


name: Epstein-Barr virus-associated malignant lymphoproliferative disorder

description: A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals.


non-ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.


name: Cardioneuromyopathy with hyaline masses and nemaline rods


cataract 18

description: Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.


tumor of salivary gland

description: A neoplasm (disease) that involves the saliva-secreting gland.


supranuclear oculomotor palsy

description: Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.


hypotrichosis 2

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


name: intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

description: A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.


thyroid sarcoma

description: A malignant soft tissue neoplasm primarily involving the thyroid gland.


craniofacial conodysplasia

description: Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.


name: proteasome-associated autoinflammatory syndrome 3


pseudo-TORCH syndrome

description: A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.


retinitis pigmentosa 36

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


name: intellectual developmental disorder with short stature and behavioral abnormalities


acute nonparalytic poliomyelitis

description: A poliomyelitis that does not exhibit paralysis.


complete hydatidiform mole

description: Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.


tick-borne encephalitis

description: Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.


amoebiasis due to Entamoeba histolytica

description: A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.


acatalasia

description: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


staphylococcus discitis

description: Discitis caused by infection with Staphylococcus.


hearing loss, X-linked 6

description: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.


alopecia mucinosa

description: A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.


name: myopia, high, with cataract and vitreoretinal degeneration


acute gonococcal epididymo-orchitis

description: Acute form of gonococcal epididymo-orchitis.


name: congenital heart defects and skeletal malformations syndrome


Ritscher-Schinzel syndrome 1

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.


name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


corneal dystrophy, Fuchs endothelial, 1

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


migraine, familial hemiplegic, 2

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.


acrofacial dysostosis Preis type

description: Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: arthrogryposis multiplex with deafness, inguinal hernias, and early death


name: epidermolysis bullosa, junctional 2A, intermediate


name: cholestasis-pigmentary retinopathy-cleft palate syndrome

description: Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.


Seckel syndrome 5

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.


name: Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay


name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.


acute endophthalmitis

description: Acute form of endophthalmitis.


multiple symmetric lipomatosis

description: Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).


otofaciocervical syndrome 1

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.


multifocal choroiditis

description: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.


name: classic congenital lipoid adrenal hyperplasia due to STAR deficency


name: chorioretinopathy dominant form microcephaly


Senior-Loken syndrome 9

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.


cataract 20 multiple types

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


name: STT3B-congenital disorder of glycosylation

description: STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).


tetanic cataract

description: A cataract resulting from hypocalcemia.


Chapare hemorrhagic fever

description: Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.


canine sebaceous gland epithelioma

description: Sebaceous epithelioma occurring in a dog.


name: epidermolysis bullosa dystrophica Neurotrophica


description: Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.


vascular hyalinosis

description: A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.


juvenile onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.


name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

description: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.


6p22 microdeletion syndrome

description: 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.


name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia


description: A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.


rippling muscle disease 2

description: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.


silent myocardial infarction

description: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.


acute gonococcal prostatitis

description: Acute form of gonococcal prostatitis.


name: hemolytic anemia due to glucophosphate isomerase deficiency

description: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.


name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome

description: A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).


upper clivus meningioma

description: A meningioma that affects the upper clivus.


name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.


Hodgkins lymphoma

description: Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.


dystonia 12

description: Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.


name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)


trisomy 12p

description: Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.


name: epithelial and subepithelial corneal dystrophy


craniomicromelic syndrome

description: Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.


name: AXIN2-related attenuated familial adenomatous polyposis


name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

description: Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.


name: growth delay-hydrocephaly-lung hypoplasia syndrome

description: Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.


age related macular degeneration 12

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.


acquired lipodystrophy

description: An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.


name: short chain acyl-CoA dehydrogenase deficiency

description: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


amelia of upper limb

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


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.


Boomerang dysplasia

description: Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.


name: disease arising from reactivation of latent virus

description: An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.


chicken fibrosarcoma

description: Fibrosarcoma that occurs in a chicken.


nail tumor

description: A neoplasm involving a nail.


osteogenesis imperfecta type 6

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.


Rothmund-Thomson syndrome type 2

description: Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.


name: autosomal recessive progressive external ophthalmoplegia

description: Autosomal recessive form of progressive external ophthalmoplegia.


dysplasia of head of femur, Meyer type

description: Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.


reproductive system neoplasm

description: A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.


name: mitochondrial complex I deficiency, nuclear type 1


sexual masochism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.


name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification


AVL induced bursal lymphoma

description: Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occurring in birds.


name: leukoencephalopathy, diffuse hereditary, with spheroids 1

description: A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.


name: radius, aplasia of, with cleft lip/palate


name: autosomal recessive nonsyndromic hearing loss 6

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


benign neoplasm of pharynx

description: A benign neoplasm that involves the pharynx.


cone-rod dystrophy 2

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


name: hypomagnesemia, seizures, and intellectual disability 1


sporadic fatal insomnia

description: A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.


autism-facial port-wine stain syndrome

description: This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.


dacryocystitis-osteopoikilosis syndrome

description: Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).


adult epithelioid sarcoma

description: An epithelioid sarcoma occurring in adults.


hemometra

description: Blood-filled uterus.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


human HOXA1 syndromes

description: Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


name: spondyloepimetaphyseal dysplasia with multiple dislocations

description: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.


congenital primary lymphedema of Gordon

description: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.


hemochromatosis type 1

description: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease


platinum-induced ototoxicity

description: Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.


name: spinal muscular atrophy with congenital bone fractures 1

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.


Wells syndrome

description: Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.


femoral vein thrombophlebitis

description: A thrombophlebitis that involves the femoral vein.


name: intellectual disability, autosomal dominant 53


name: developmental and epileptic encephalopathy, 29

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


name: myopathy, autophagic vacuolar, infantile-onset


name: macular dystrophy, fenestrated sheen type


description: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


name: terminal osseous dysplasia-pigmentary defects syndrome

description: A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.


ADan amyloidosis

description: A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


name: Charcot-Marie-Tooth disease, dominant intermediate A


hereditary spastic paraplegia 17

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.


name: cobblestone lissencephaly without muscular or ocular involvement

description: Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.


clear cell meningioma

description: A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.


migraine with brainstem aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.


primary ciliary dyskinesia 20

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.


name: myasthenia, congenital, refractory to acetylcholinesterase inhibitors


name: basal ganglia calcification, idiopathic, 5


name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation


acquired hemophilia

description: Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.


name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome


name: mitochondrial complex 4 deficiency, nuclear type 20


description: Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.


chronic urticaria

description: An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.


name: autosomal dominant nonsyndromic hearing loss 49

description: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.


6q16 deletion syndrome

description: Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.


name: intrauterine growth retardation with increased mitomycin c sensitivity


progressive myoclonic epilepsy type 6

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.


Charcot-Marie-Tooth disease type 2A2

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.


Adams-Oliver syndrome 6

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.


name: neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


name: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


pacman dysplasia

description: Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.


Brucella abortus brucellosis

description: A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.


multifocal motor neuropathy

description: Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.


trisomy 5p

description: Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.


cone-rod dystrophy 10

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.


analphalipoproteinaemia, chicken

description: Analphalipoproteinaemia that occurs in chicken.


name: spinal muscular atrophy, infantile, James type


name: intellectual developmental disorder, autosomal recessive 67


name: developmental delay with or without dysmorphic facies and autism


name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


name: furuncular myiasis due to Dermatobia hominis


Charcot-Marie-Tooth disease type 4E

description: Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.


name: hydrocephalus, nonsyndromic, autosomal recessive 1

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.


MASS syndrome

description: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.


description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.


familial hyperprolactinemia

description: Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.


name: recessive dystrophic epidermolysis bullosa-generalized other

description: Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.


name: Charcot-Marie-Tooth disease dominant intermediate E

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.


name: thiamine-responsive megaloblastic anemia syndrome

description: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.


ermine phenotype

description: A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.


name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies


name: hyperzincemia with functional zinc depletion


acquired idiopathic torsion dystonia

description: An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.


name: familial idiopathic dilatation of the right atrium

description: Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.


name: intellectual disability, autosomal dominant 8

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.


isolated microphthalmia

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


childhood-onset nemaline myopathy

description: Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.


lymph node cancer

description: A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004


name: familial partial lipodystrophy, Dunnigan type

description: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.


name: muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers


name: glycogen storage disease due to muscle and heart glycogen synthase deficiency

description: A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.


malignant lymphatic vessel tumor

description: Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.


louping ill

description: An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.


pressure-induced localized lipoatrophy

description: Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.


description: Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.


Leber congenital amaurosis 1

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.


name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

description: An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.


alternating hemiplegia of childhood 1

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.


heart-hand syndrome

description: Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.


name: posttransplant acute limbic encephalitis

description: Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.


perioral myoclonia with absences

description: Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.


name: factor VII and Factor VIII, combined deficiency of


name: X-linked cerebral-cerebellar-coloboma syndrome syndrome

description: A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.


name: neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


anterior foramen magnum meningioma

description: A meningioma that affects the anterior foramen magnum.


white platelet syndrome

description: White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.


neuronal ceroid lipofuscinosis 9

description: Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: Charcot-Marie-Tooth disease, demyelinating, type 1J


Becker nevus syndrome

description: Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.


thrombocytopenia 1

description: An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


description: X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.


name: Curly hair - acral keratoderma - caries syndrome

description: Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.


pseudohypoaldosteronism type 2E

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.


HAND1 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.


pustular pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.


Meckel syndrome, type 2

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


name: fundus dystrophy, pseudoinflammatory, recessive form


description: A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)


name: jaundice, familial obstructive, of infancy


name: cleft palate-large ears-small head syndrome

description: Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.


name: autosomal recessive nonsyndromic hearing loss 2

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.


name: isolated total cerebellar vermis agenesis


name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


immunodeficiency, common variable, 5

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.


hemophilic arthropathy

description: A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.


name: sacral hemangiomas multiple congenital abnormalities


biphasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.


name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

description: This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.


striate palmoplantar keratoderma

description: Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.


name: Bryant-Li-Bhoj neurodevelopmental syndrome 1


name: muscular dystrophy-dystroglycanopathy type B5

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.


name: familial primary hypomagnesemia with normocalciuria and normocalcemia

description: Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.


description: Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.


name: autosomal dominant complex spastic paraplegia

description: Autosomal dominant form of complex hereditary spastic paraplegia.


name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis


name: syndromic X-linked intellectual disability 7

description: Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.


name: APC-related attenuated familial adenomatous polyposis


Charcot-Marie-Tooth disease type 4J

description: Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


Brugada syndrome 2

description: Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.


name: autosomal recessive nonsyndromic hearing loss 15

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.


candidiasis, familial, 6

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.


pseudohypoaldosteronism type 2B

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.


GATA5-related congenital heart defects

description: A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.


primary brain neoplasm

description: A neoplasm arising from the brain.


name: STAT3-related early-onset multisystem autoimmune disease

description: An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis.


metachronous osteosarcoma of the bone

description: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.


name: neurodevelopmental disorder with hypotonia, seizures, and absent language


intestinal botulism

description: A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).


name: benign partial epilepsy with secondarily generalized seizures in infancy

description: Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.


secondary dentine

description: Dentin formed by normal pulp after completion of root end formation.


description: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


linear IgA Dermatosis

description: Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).


Castleman-Kojima disease

description: A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly


brittle cornea syndrome

description: Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.


thanatophoric dysplasia type 1

description: Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.


Pierpont syndrome

description: Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.


immature cataract

description: A cataract disease in which the cataract contains some transparent protein


hereditary spastic paraplegia 62

description: Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.


isolated adrenal insufficiency

description: An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


name: myasthenic syndrome, congenital, 25, presynaptic


hypoplastic left heart syndrome 2

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.


congenital bowing of long bones

description: Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.


hyperargininemia

description: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


name: congenital stationary night blindness 1C

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.


name: autosomal recessive nonsyndromic hearing loss 22

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


name: syndromic X-linked intellectual disability 34

description: Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.


RAB23-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.


hereditary spastic paraplegia 19

description: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.


central precocious puberty

description: Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).


name: dyskeratosis congenita, autosomal dominant 1

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.


endocardium disorder

description: A disease involving the endocardium.


lichen disease

description: A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.


anaplastic/large cell medulloblastoma

description: A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.


familial glucocorticoid deficiency

description: Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.


intracranial hypotension

description: Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)


name: pseudohypoaldosteronism, type IB2, autosomal recessive


name: short stature and microcephaly with genital anomalies


name: muscular fibrosis multifocal obstructed vessels


infantile epilepsy syndrome

description: An epilepsy syndrome that occurs between 28 days to one year of life.


exudative vitreoretinopathy 6

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.


spinocerebellar ataxia type 34

description: A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.


description: This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.


name: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome


congenital bile acid synthesis defect 1

description: Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.


congenital left-sided heart lesions

description: Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.


benign neoplasm of skin

description: A benign neoplasm that involves the zone of skin.


name: combined oxidative phosphorylation deficiency 35


ancylostomiasis

description: Infection by hookworms of the genus Ancylostoma.


primary ciliary dyskinesia 8

description: A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.


name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

description: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.


glucocorticoid deficiency 3

description: A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.


name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease


familial temporal lobe epilepsy 5

description: A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.


primary pulmonary hypertension

description: Increased blood pressure in the arteries of the lungs; the etiology is unknown.


neoplasm of cerebral hemisphere

description: A neoplasm involving a cerebral hemisphere.


name: Bowen syndrome of multiple malformations


name: prolactin deficiency with obesity and enlarged testes


GUCY2D retinopathy

description: Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


spinocerebellar ataxia type 10

description: Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.


name: reversible cerebral vasoconstriction syndrome

description: Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.


name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


name: ciliary dyskinesia with defective radial spokes


Stickler syndrome, type 4

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.


alpha-actinopathy

description: A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.


name: disorder of development or morphogenesis

description: Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.


nonsyndromic congenital nail disorder 8

description: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.


name: arthrogryposis multiplex congenita-whistling face syndrome

description: Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.


name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


alpha thalassemia spectrum

description: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


immunodeficiency 87 and autoimmunity

description: An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.


amyloidosis cutis dyschromia

description: Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.


faucial diphtheria

description: Infection of the fauces by Corynebacterium diphtheriae.


atrophic lichen planus

description: Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.


name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


bardet-biedl syndrome 21

description: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).


name: triokinase and FMN cyclase deficiency syndrome


name: heterotopia, periventricular, associated with chromosome 5P anomalies


acute cystitis

description: An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.


HSD10 disease, infantile type

description: HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


iatrogenic Kaposi's sarcoma

description: A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.


Brugada syndrome 5

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.


bacterial conjunctivitis

description: Inflammation of the conjunctiva caused by a variety of bacterial agents.


Nance-Horan syndrome

description: A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.


beta-thalassemia major

description: Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.


citrullinemia, type II, adult-onset

description: Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.


name: menstrual cycle-dependent periodic fever


non-hodgkin lymphoma, dog

description: Non-hodgkin lymphoma that occurs in dog.