name: punctate palmoplantar keratoderma type III

description: Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later


LRP5-related primary osteoporosis

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


name: arthrogryposis, renal dysfunction, and cholestasis 1

description: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.


bulbospinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


primary viral infectious disease

description: The initial viral infectious disase that causes illness.


distal trisomy 16q

description: Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


Nager acrofacial dysostosis

description: Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


name: central centrifugal cicatricial alopecia


torovirus infectious disease

description: Infections with viruses of the genus torovirus, family coronaviridae.


lentivirus infection

description: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


renal hypoplasia, unilateral

description: Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


intellectual disability, X-linked 99

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.


Aicardi-Goutieres syndrome 4

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.


cyclosporiasis

description: A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.


name: congenital complete agenesis of pericardium

description: Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.


exostosis, Dupuytren subungual

description: A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative.


name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea

description: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.


name: palmoplantar keratoderma, Nagashima type

description: Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.


Lisch epithelial corneal dystrophy

description: Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.


name: autosomal recessive nonsyndromic hearing loss 70

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


psychiatric disorder

description: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


description: Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


name: cellular phase chronic idiopathic myelofibrosis

description: Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.


C1q nephropathy

description: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


cancer of long bone of upper limb

description: A cancer that involves the upper limb long bone.


description: Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.


name: catecholaminergic polymorphic ventricular tachycardia

description: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


name: hantavirus hemorrhagic fever with renal syndrome

description: A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.


name: congenital neuronal ceroid lipofuscinosis

description: Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


malignant tenosynovial giant cell tumor

description: An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.


name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


name: acute myeloid leukemia, t(16;16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


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


name: autosomal dominant optic atrophy and peripheral neuropathy

description: Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


nephronophthisis-like nephropathy 1

description: Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.


paroxysmal Hemicrania

description: Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


name: tooth agenesis, selective, with orofacial cleft


name: autosomal recessive nonsyndromic hearing loss 18A

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


name: autosomal recessive nonsyndromic hearing loss 89

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


name: Gaucher disease due to saposin C deficiency

description: Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


name: mitochondrial trifunctional protein deficiency 2


name: congenital stationary night blindness autosomal dominant 2

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.


name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


retinitis pigmentosa 6

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.


name: dystrophies primarily involving the retinal pigment epithelium


spleen neoplasm

description: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


Upington disease

description: Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.


paroxysmal nocturnal hemoglobinuria 1

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.


Langer mesomelic dysplasia

description: Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


name: XYLT1-congenital disorder of glycosylation


description: Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


description: Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.


autoimmune optic neuritis

description: An autoimmune form of optic neuritis.


name: microcephalic osteodysplastic primordial dwarfism type II

description: A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


name: aniridia-cerebellar ataxia-intellectual disability syndrome

description: Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.


cardiovascular organ benign neoplasm

description: A benign neoplasm that involves the cardiovascular system.


name: combined immunodeficiency due to moesin deficiency


Stern-Lubinsky-Durrie syndrome

description: Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.


heterotaxy, visceral, 1, X-linked

description: X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.


name: spastic paraplegia 70, autosomal recessive


hereditary glaucoma

description: Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.


osteogenesis imperfecta type 1

description: Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


aleukemic leukemia cutis

description: Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.


name: agammaglobulinemia 5, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.


name: skeletal dysplasia-intellectual disability syndrome

description: Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.


internal hemorrhoid

description: A hemorrhoid which originates above the dentate line.


chondrogenic neoplasm

description: A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


name: tumoral calcinosis, hyperphosphatemic, familial, 1


reflex epilepsy

description: Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).


name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome


name: intellectual developmental disorder, autosomal dominant 66


intraorbital meningioma

description: A meningioma that affects the intraorbital structures.


idiopathic recurrent stupor

description: Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.


name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


infection caused by Bifidobacterium

description: A disease caused by infection with Bifidobacterium.


Tietze syndrome

description: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.


paroxysmal cold hemoglobinuria

description: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.


name: hypothyroidism, congenital, nongoitrous, 5

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.


teratocarcinoma

description: A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.


hereditary spastic paraplegia 24

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.


3q27.3 microdeletion syndrome

description: A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.


name: chromosome 1p36 deletion syndrome, proximal


anosognosia

description: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.


name: Charcot-Marie-Tooth disease, axonal, type 2EE


name: cardiomyopathy hypogonadism metabolic anomalies


Maffucci syndrome

description: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


craniosynostosis 6

description: Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.


transient neonatal myasthenia gravis

description: Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.


name: autosomal dominant mitochondrial myopathy with exercise intolerance


orofacial cleft 15

description: Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.


name: autosomal dominant nonsyndromic hearing loss 22

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


name: TH-deficient progressive infantile encephalopathy

description: A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.


name: microphthalmia, isolated, with coloboma 9

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.


name: neuropathy, hereditary sensory and autonomic, type 1C

description: A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.


aquagenic palmoplantar keratoderma

description: Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


name: autosomal recessive hypophosphatemic rickets

description: Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.


name: autosomal recessive congenital ichthyosis 10

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.


name: complex cortical dysplasia with other brain malformations 3

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.


xeroderma pigmentosum group E

description: An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.


name: infection-related hemolytic uremic syndrome


name: congenital anomaly of the mitral subvalvular apparatus


mismatch repair cancer syndrome 1

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


ABCA4-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.


intellectual disability, X-linked 30

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.


mature teratoma

description: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


subendocardial myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.


Bothnia retinal dystrophy

description: A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.


pontocerebellar hypoplasia type 2B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.


mucocutaneous lymph node syndrome

description: Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.


female reproductive system disorder

description: A disease involving the female reproductive system.


intracranial berry aneurysm

description: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


short stature due to GHSR deficiency

description: Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.


name: ventricular fibrillation, paroxysmal familial, 2

description: Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.


name: short-rib thoracic dysplasia 10 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.


name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

description: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


Bardet-Biedl syndrome 16

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


name: carbon monoxide-induced delayed encephalopathy

description: Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event


adactylia, unilateral

description: A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.


name: mucopolysaccharidosis type 6, rapidly progressing


laryngocele

description: A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.


linear focal dermal elastosis

description: Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.


name: developmental and epileptic encephalopathy 112


name: disorder of metabolite absorption and transport


advanced sleep phase syndrome 1

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.


enuresis, nocturnal, 1

description: Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.


congenital myasthenic syndrome 7

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.


description: A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


name: combined oxidative phosphorylation deficiency 52


hirudiniasis

description: An disease or disorder caused by infection with Hirudinea.


name: mixed phenotype acute leukemia,T/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


post-thrombotic syndrome

description: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.


fish eye disease

description: Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


familial benign copper deficiency

description: Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.


name: congenital dyserythropoietic anemia type 3

description: Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.


name: recessive aplasia cutis congenita of limbs

description: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.


Buruli ulcer disease

description: A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.


name: CIDEC-related familial partial lipodystrophy


name: defect in conserved oligomeric Golgi complex


vaginal fibroepithelial polyp

description: A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


name: intellectual disability, autosomal recessive 10


Leber congenital amaurosis 15

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


Fusobacteriaceae infectious disease

description: Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.


bacterial hemorrhagic fever

description: A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


hyperplastic polyp

description: A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).


oculotrichodysplasia

description: Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.


name: epithelioid inflammatory myofibroblastic sarcoma


hereditary optic atrophy

description: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


congenital enterovirus infection

description: Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.


peroxisomal disease

description: A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


neonatal glycine encephalopathy

description: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


juvenile myasthenia gravis

description: Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.


inborn disorder of energy metabolism

description: An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


adrenomyodystrophy

description: Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.


name: partial duplication of the short arm of chromosome 3

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


chromosome 12 disorder

description: Chromosomal disorder in which chromosome 12 is affected.


absence of innominate vein

description: Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


acute bilirubin encephalopathy

description: A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.


name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


leukemia, myeloid, accelerated-phase

description: The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


description: A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.


name: CELSR1-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


chromosome 6q24-q25 deletion syndrome

description: 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


Coffin-Siris syndrome 7

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


name: intellectual disability, autosomal recessive 51

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


name: inborn disorder of amino acid and other organic acid metabolism


name: spongiform encephalopathy with neuropsychiatric features


name: COG6-ongenital disorder of glycosylation


name: core binding factor acute myeloid leukemia

description: An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


name: autism spectrum disorder due to AUTS2 deficiency

description: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


leukoplakia of vagina

description: Leukoplakia of the vagina.


dacryoadenitis

description: Inflammation and enlargement of the lacrimal gland.


elastofibroma dorsi

description: A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.


eyelid melanoma

description: A melanoma that arises from the upper or lower eyelid.


juvenile hyaline fibromatosis

description: Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.


name: congenital pulmonary airway malformation type 0


neutral lipid storage disease

description: Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.


dermis tumor

description: A benign, intermediate, or malignant neoplasm that arises from the dermis.


name: dyskeratosis congenita, autosomal dominant 3

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


occipital lobe neoplasm

description: A neoplasm involving a occipital lobe.


acute retinal necrosis syndrome

description: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.


name: central nervous system hematopoietic neoplasm

description: A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.


frontometaphyseal dysplasia 2

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


vulvar syringoma

description: A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.


name: complete atrioventricular canal-left heart obstruction syndrome


name: immunodeficiency 78 with autoimmunity and developmental delay


cervical Wilms tumor

description: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


sleep disorder

description: A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

description: Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.


secondary syringomyelia

description: Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.


benign essential hypertension

description: A condition of mild to moderate high blood pressure that has no identifiable cause.


name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


name: mitochondrial complex 1 deficiency, nuclear type 29


name: inborn disorder of amino acid metabolism

description: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


poorly differentiated chordoma

description: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.


myxoid leiomyosarcoma

description: A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2

description: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.


name: combined oxidative phosphorylation deficiency 57


cerebellopontine angle tumor

description: A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.


IMPG2-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the IMPG2 gene.


uterine ligament cancer

description: A primary or metastatic malignant neoplasm that affects the uterine ligament.


name: lissencephaly with cerebellar hypoplasia type F

description: Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.


familial tumoral calcinosis

description: Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.


Bartter disease type 5

description: Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.


name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


name: metaphyseal dysplasia, Braun-Tinschert type

description: Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


chondromyxoid fibroma

description: An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.


vibrio vulnificus infectious disease

description: An disease or disorder caused by infection with Vibrio vulnificus.


mild hyperphenylalaninemia

description: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


AICA-ribosiduria

description: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


Chuvash polycythemia

description: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


chronic endometritis

description: A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


bubonic plague

description: A plague in which the bacteria have infected the lymphatic system.


name: syndromic X-linked intellectual disability Shashi type

description: X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.


Brugada syndrome 1

description: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.


name: developmental and epileptic encephalopathy, 51

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


coronary arterial fistulas

description: Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.


elliptocytosis 1

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.


hemicrania continua

description: Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.


description: A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


central nervous system lipoma

description: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.


premature ovarian failure 12

description: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.


nephronophthisis 12

description: Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.


alopecia, congenital

description: A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.


description: Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.


name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


name: osteopathia striata with cranial sclerosis

description: Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.


name: peroxisome biogenesis disorder due to PEX10 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


acquired porencephaly

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


autosomal recessive Robinow syndrome

description: Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.


visceral calciphylaxis

description: Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.


name: intellectual disability, autosomal recessive 27

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


cholinergic urticaria

description: A type of physical urticarias (or hives) that appears when a person is sweating.


name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

description: Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.


prolymphocytic leukemia

description: A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.


benign neoplasm of nasopharynx

description: A benign neoplasm that involves the nasopharynx.


cercarial dermatitis

description: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.


retinitis pigmentosa 20

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.


congenital megacalycosis

description: Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.


name: primary central precocious puberty in male


acrocoxomesomelic dysplasia

description: A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


single-organ polyarteritis nodosa

description: Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.


name: desmin-related myopathy with Mallory body-like inclusions


name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

description: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


amyotrophic lateral sclerosis type 4

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


acquired central diabetes insipidus

description: Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


black widow spider envenomation

description: Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).


alopecia areata

description: Loss of scalp and body hair involving microscopically inflammatory patchy areas.


hereditary disease

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


name: congenital stenosis of the inferior vena cava


amelogenesis imperfecta type 1H

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


adult-onset myasthenia gravis

description: Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.


autoimmune glomerulonephritis

description: An autoimmune form of glomerulonephritis (disease).


complement component 6 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


Charcot-Marie-Tooth disease type 2B5

description: A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.


giant axonal neuropathy 2

description: Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.


name: hyperlysinemia due to defect in lysine transport into mitochondria


Madras motor neuron disease

description: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


benign Leydig cell tumor

description: A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


localized lipodystrophy

description: Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.


name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


name: short-rib thoracic dysplasia 7 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.


adrenal medullary hyperplasia

description: A hyperplasia that involves the adrenal medulla.


name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

description: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


ataxia-telangiectasia-like disorder

description: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.


platelet-type bleeding disorder 11

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


hereditary spastic paraplegia

description: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


name: acute myeloid leukemia with minimal differentiation

description: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)


disorder of copper metabolism

description: An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


hereditary spastic paraplegia 14

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


hypotrichosis 11

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


IgG4-related mesenteritis

description: Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).


orofaciodigital syndrome V

description: Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).


name: epidermolysis bullosa, junctional 3A, intermediate


name: periodic fever-infantile enterocolitis-autoinflammatory syndrome


name: mandibuloacral dysplasia with type A lipodystrophy

description: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.


free sialic acid storage disease

description: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


peroxisome biogenesis disorder 5B

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


true myeloschisis

description: A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).


name: pulmonary hypertension owing to lung disease and/or hypoxia


name: neuropathy, hereditary sensory and autonomic, type IId


ureteral disorder

description: A non-neoplastic or neoplastic disorder affecting the ureter.


name: dyskeratosis congenita, autosomal dominant 4


name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


name: combined oxidative phosphorylation deficiency 53

description: An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.


anterior nasal diphtheria

description: Infection of the anterior nasal structures by Corynebacterium diphtheriae.


monochloroacetic acid poisoning

description: A poisoning that is caused by exposure to monochloroacetic acid.


fibrosclerosis, multifocal

description: A rare syndrome of unknown etiology characterized by progressive fibrosis involving multiple organ sites.


pulp erosion

description: A tooth erosion, non-bacterial that involves the dental pulp.


name: spastic paraplegia 82, autosomal recessive

description: Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.


acute myeloid leukemia, Monosomy 5

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


Bartter syndrome with hypocalcemia

description: Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)


fibronectin glomerulopathy

description: A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.


benign neoplasm of cerebellum

description: A benign neoplasm that involves the cerebellum.


onychocytic matricoma

description: Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.


name: congenitally short costocoracoid ligament

description: Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.


name: Spondyloenchondrodysplasia with immune dysregulation


juvenile absence epilepsy

description: A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


endotheliitis

description: An inflammatory disease involving a pathogenic inflammatory response in the endothelium.


name: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


ophthalmomyiasis

description: An myiasis caused by infection with Oestrus ovis.


dermis disorder

description: A disease that involves the dermis.


name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

description: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.


central precocious puberty 1

description: Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.


Sinding-Larsen-Johansson disease

description: Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


Rotor syndrome

description: Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.


name: external auditory canal atresia-vertical talus-hypertelorism syndrome


uveal disorder

description: A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.


primary ciliary dyskinesia 30

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.


name: congenital myopathy with reduced type 2 muscle fibers


supranuclear palsy, progressive, 1

description: Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.


description: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


hereditary spastic paraplegia 12

description: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.


name: epidermolysis bullosa, junctional 4, intermediate


dominant beta-thalassemia

description: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


dermatoosteolysis, Kirghizian type

description: Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


name: disseminated visceral giant cell angiitis

description: A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


dentine erosion

description: A tooth erosion, non-bacterial that involves the dentine.


Nevada syndrome

description: NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.


name: hypogonadotropic hypogonadism 14 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.


hereditary spastic paraplegia 32

description: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


multidrug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


name: hypercholesterolemia, autosomal dominant, 3

description: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.


hereditary spastic paraplegia 36

description: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


name: SIN3A-related intellectual disability syndrome due to a point mutation


nocturnal enuresis, 2

description: Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.


name: microcephaly 13, primary, autosomal recessive

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


name: intellectual developmental disorder, autosomal dominant 74


ABeta amyloidosis, Italian type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


name: nasal cavity and paranasal sinus lethal midline granuloma

description: An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.


name: developmental and epileptic encephalopathy, 88


Marchiafava-Bignami disease

description: Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.


intracranial arterial disease

description: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


name: pituitary deficiency due to Rathke's pouch cysts


name: brain small vessel disease 1 with or without ocular anomalies

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.


name: myalgia-eosinophilia syndrome associated with tryptophan

description: A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.


14q12 microdeletion syndrome

description: 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.


name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


aorta atresia

description: An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.


KIZ-related retinopathy

description: Any retinopathy caused by variants in the KIZ gene.


idiopathic inflammatory myopathy

description: Idiopathic form of inflammatory myopathy.


name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

description: A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


pyridoxal phosphate-responsive seizures

description: Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


immunoproliferative disorder

description: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.


name: sickle cell-hemoglobin d disease syndrome

description: A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.


phosphorus metabolism disease

description: A metabolic disorder that affects the phosphate homeostasis.


purine metabolism disease

description: A disease that has its basis in the disruption of purine nucleobase metabolic process.


Bardet-Biedl syndrome 11

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.


immunodeficiency 37

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


name: paternal uniparental disomy of chromosome 13

description: Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: advance sleep phase syndrome, familial, 4


name: autosomal recessive spastic paraplegia type 69


name: developmental and epileptic encephalopathy, 43

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


ectodermal dysplasia 9, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


name: MELAS syndrome caused by mutation in MTTQ

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


juvenile overlap myositis

description: Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.


pyruvate dehydrogenase E2 deficiency

description: Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


orofacial cleft 11

description: Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.


name: benign vaginal mixed epithelial and mesenchymal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.


name: mitochondrial complex I deficiency, mitochondrial type


adolescent idiopathic scoliosis

description: A scoliosis with no known cause arising in adolescent.


Powassan encephalitis

description: A disease caused by infection with Powassan virus.


name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


name: developmental and epileptic encephalopathy, 37

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


name: developmental and epileptic encephalopathy, 47

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


name: multiple epiphyseal dysplasia, with miniepiphyses

description: Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


description: Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.


theileriasis

description: Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.


name: carnitine palmitoyltransferase II deficiency

description: Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.


tinea imbricata

description: A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


critical illness polyneuropathy

description: Polyneuropathy arising in intensive care unit patients.  It is a common complication of severe sepsis and is thought to represent a neurologic manifestation of systemic inflammatory response syndrome (SIRS).


name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant


scorpion envenomation

description: Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.


name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


mixed malaria

description: A malaria that involves infection with more than one species of Plasmodium at the same time.


oculopharyngodistal myopathy 2

description: An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.


focal segmental glomerulosclerosis 7

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


infantile spasms-broad thumbs syndrome

description: A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

description: A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


name: childhood multilocular cystic kidney neoplasm

description: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

description: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


pelvic varices

description: A varicose disease that involves the pelvic region of trunk.


autosomal dominant vibratory urticaria

description: An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.


name: autosomal recessive familial Mediterranean fever

description: Autosomal recessive form of familial Mediterranean fever.


multifocal dystonia

description: A dystonia that involves two or more unrelated body parts.


name: partial deletion of the short arm of chromosome 7

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


glycogen storage disease V

description: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


name: hemophagocytic lymphohistiocytosis, familial, 6


name: partial trisomy/tetrasomy of chromosome 5


name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

description: A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


anonychia with flexural pigmentation

description: Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


name: spinocerebellar ataxia, autosomal recessive 27


name: partial duplication of the short arm of chromosome 10


name: maternal uniparental disomy of chromosome 13

description: Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


benign occipital epilepsy

description: Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.


name: dystrophic epidermolysis bullosa, nails only

description: Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.


description: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


erythrokeratodermia variabilis

description: A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.


cystic neoplasm

description: A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.


name: vitamin K-dependent clotting factors, combined deficiency of, type 1

description: Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.


rigid spine muscular dystrophy 1

description: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.


pontocerebellar hypoplasia, type 2F

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.


hereditary spastic paraplegia 4

description: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


uveoparotid fever

description: A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.


primary pediatric heart tumor

description: Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.


Fuchs heterochromic iridocyclitis

description: Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.


diaphragma sellae meningioma

description: A meningioma that affects the diaphragma sellae.


Norwegian scabies

description: A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.


cutaneous liposarcoma

description: A malignant adipose tissue neoplasm of the skin.


fibular aplasia-ectrodactyly syndrome

description: Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.


name: mitochondrial complex 2 deficiency, nuclear type 3


nephrotic syndrome, type 8

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


Rieger anomaly

description: Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.


acquired rippling muscle disease

description: The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.


tibio-fibular synostosis

description: Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.


ring chromosome 11

description: Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


name: junctional epidermolysis bullosa inversa

description: Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.