acral peeling skin syndrome

description: Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


SNRNP200-related dominant retinopathy

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

description: A retinopathy caused by heterozygous variants in the SNRNP200 gene.


carboxypeptidase N deficiency

description: An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.


female stress incontinence

description: The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.


leiomyosarcoma of the cervix uteri

description: Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.


chromosome 13q14 deletion syndrome

description: Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.


name: acquired hemophagocytic lymphohistiocytosis associated with malignant disease


PHACE syndrome

description: PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.


barbiturate dependence

description: A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.


uterine polyp

description: A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.


name: autosomal recessive myogenic arthrogryposis multiplex congenita

description: Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.


Hao-Fountain syndrome

description: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).


malignant catarrh

description: A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.


name: streptococcus, group A, severity of infection by


name: neuronopathy, distal hereditary motor, type 2B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


name: dyskeratosis congenita, autosomal recessive 3

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.


cranioectodermal dysplasia

description: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


name: DPM3-congenital disorder of glycosylation

description: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


paragonimiasis

description: A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.


synaptopathy

description: A disease caused by dysfunction of synapses.


name: muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome


7p22.1 microduplication syndrome

description: 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.


Siegler-Brewer-Carey syndrome

description: Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.


name: congenital myopathy 4A, autosomal dominant


Tatton-Brown-Rahman overgrowth syndrome

description: A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.


keratoconjunctivitis, infectious

description: Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.


bovine protoporphyria

description: A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.


name: progeroid facial appearance with hand anomalies


trichoodontoonychial dysplasia

description: Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.


hypotrichosis simplex of the scalp

description: Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.


Achondroplasia

description: Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


name: circumscribed disseminated keratosis Jadassohn lew type


name: glutamate pyruvate transaminase 2 deficiency


name: acromesomelic dysplasia 2C, Hunter-Thompson type

description: Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.


spinocerebellar ataxia type 30

description: Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.


platelet-type bleeding disorder 20

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.


hemochromatosis type 4

description: A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.


name: X-linked intellectual disability with isolated growth hormone deficiency


name: balanced Robertsonian translocation Down syndrome

description: Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes.


name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

description: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.


Rosselli-Gulienetti syndrome

description: A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene


name: basal ganglia calcification, idiopathic, 6

description: Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.


name: spondylocostal dysostosis-hypospadias-intellectual disability syndrome


hereditary spastic paraplegia 73

description: Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.


name: B acute lymphoblastic leukemia with DUX4 rearrangement

description: A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.


adult-onset citrullinemia type I

description: Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.


name: Tessadori-Van Haaften neurodevelopmental syndrome 3


hereditary mucoepithelial dysplasia

description: A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.


non-human animal disease

description: A disease that occurs in animals.


von Willebrand disease type 2N

description: Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).


Primrose syndrome

description: A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.


serpiginous choroiditis

description: Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.


name: microcephaly-microcornea syndrome, Seemanova type

description: Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.


name: straddling or overriding tricuspid valve

description: Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.


name: epidermolysis bullosa simplex 2B, generalized intermediate


pilosebaceous hamartoma

description: A hamartoma characterized by localized pilosebaceous apparatus malformation.


name: developmental and epileptic encephalopathy, 85, with or without midline brain defects


carnosinemia

description: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


urethra cancer

description: A malignant neoplasm involving the urethra


testicular Leydig cell tumor

description: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.


X-linked myotubular myopathy

description: A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.


name: lethal congenital contracture syndrome 3

description: Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.


Cowden syndrome 7

description: Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.


CNGA3-related retinopathy

description: A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.


split hand-foot malformation 4

description: Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.


neuronal intranuclear inclusion disease

description: Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.


auriculoosteodysplasia

description: Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.


name: ichthyosis, lamellar, autosomal dominant


benign urethral neoplasm

description: Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.


Joubert syndrome 24

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


name: punctate palmoplantar keratoderma type 1

description: Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..


description: Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.


name: round cell sarcoma with EWSR1-PATZ1 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.


name: photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction


oculopharyngodistal myopathy

description: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits


pulmonary hypertension, primary, 3

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.


name: chondrodysplasia with joint dislocations, gPAPP type


name: qualitative or quantitative defects of nebulin


name: clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia


autosomal recessive osteopetrosis 7

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.


dengue shock syndrome

description: A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


encircling double aortic arch

description: Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.


Treacher Collins syndrome 1

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.


hematocele of tunica vaginalis testis

description: Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.


name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

description: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability


renal leiomyoma

description: A leiomyoma that involves the kidney.


tuberculous salpingitis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.


congenital myasthenic syndrome 17

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


choriocarcinoma of testis

description: A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.


name: peroxisome biogenesis disorder due to PEX7 defect

description: Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


micturation-induced seizures

description: Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.


name: pigmented nodular adrenocortical disease, primary, 4

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.


keratosis pilaris atrophicans faciei

description: A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.


name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


ANE syndrome

description: ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.


autosomal dominant hypocalcemia

description: Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.


name: ovarian cancer, familial, susceptibility to, 2


autosomal dominant osteopetrosis

description: Autosomal dominant form of osteopetrosis (disease).


Jeavons syndrome

description: Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


name: autosomal recessive spastic paraplegia type 60


Eiken syndrome

description: Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.


Weismann-Netter syndrome

description: Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.


thyroid cancer

description: A malignant neoplasm involving the thyroid gland


name: autosomal recessive spinocerebellar ataxia 13

description: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


name: toes, relative length of first and second


cancer of long bone of lower limb

description: A cancer that involves the hindlimb long bone.


5q14.3 microdeletion syndrome

description: The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.


Wolfram-like syndrome

description: Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.


Pai syndrome

description: Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.


atopic IgE-mediated allergic disorder

description: A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.


classic familial adenomatous polyposis

description: Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.


PBRM1-related BAFopathy

description: Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.


Temple-Baraitser syndrome

description: A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.


idiopathic recurrent pericarditis

description: A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.


name: bacterial meningitis caused by gram-negative bacteria


name: ophthalmoplegia totalis with ptosis and miosis


name: Stickler syndrome, type I, nonsyndromic ocular


name: autosomal recessive nonsyndromic hearing loss 84A

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


non-amyloid fibrillary glomerulopathy

description: Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.


name: microphthalmia, isolated, with coloboma 7

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.


name: renal hypomagnesemia 5 with ocular involvement

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.


T2-low asthma

description: A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.


name: autosomal recessive dyskeratosis congenita 4

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.


description: Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.


name: autosomal recessive nonsyndromic hearing loss 18B

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


name: adrenocortical unresponsiveness to ACTH with postreceptor defect


musculoskeletal system cancer

description: A malignant neoplasm involving the musculoskeletal system


name: global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

description: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).


cranial nerve neoplasm

description: Abnormal growth of the cells that comprise the cranial nerves.


intermediate cell type iris melanoma

description: Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


Oropouche fever

description: A disease caused by infection with Oropouche virus.


cerebritis

description: Inflammation of the cerebrum.


integumentary system cancer

description: A malignant neoplasm involving the integumental system


benign neoplasm of subglottis

description: A benign neoplasm that involves the subglottis.


name: hyperthermia, cutaneous, with headaches and nausea


name: generalized epilepsy with febrile seizures plus, type 7

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


lipase deficiency, combined

description: A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.


vitamin D-dependent rickets, type 2B

description: Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.


chronic neutrophilic leukemia

description: A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.


name: childhood testicular mixed embryonal carcinoma and teratoma

description: A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.


name: autosomal dominant limb-girdle muscular dystrophy type 1G

description: Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


name: peroxisome biogenesis disorder 6A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


name: ectodermal dysplasia alopecia preaxial polydactyly


nephrotic syndrome, type 9

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


acute epiglottitis

description: Acute form of epiglottitis.


name: spondyloepiphyseal dysplasia tarda with characteristic facies


name: testicular non-seminomatous germ cell cancer

description: A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.


name: progressive supranuclear palsy-pure akinesia with gait freezing syndrome

description: PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


name: infantile onset panniculitis with uveitis and systemic granulomatosis


spirochaetales infections

description: Infections with bacteria of the order SPIROCHAETALES.


name: collagen 6-related congenital muscular dystrophy


Zinner syndrome

description: A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.


aortic valve disease 3

description: Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.


hereditary spherocytosis type 2

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.


steroid metabolism disease

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


post-infectious disorder

description: A disorder that follows infection but is distinct from the infection itself and its usual manifestations.


name: immunodeficiency 98 with autoinflammation, X-linked

description: An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.


name: contractures, pterygia, and variable skeletal fusions syndrome


eosinophil disorder

description: A disease or disorder that involves the eosinophil.


name: muscular dystrophy, adult-onset, with leukoencephalopathy


alcoholic polyneuropathy

description: Any disease affecting more than one nerve.


inborn disorder of porphyrin metabolism

description: An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.


name: autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

description: Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.


postmenopausal atrophic vaginitis

description: Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.


indeterminate leprosy

description: A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.


name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

description: IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).


Turcot syndrome with polyposis

description: Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.


MYPN-related myopathy

description: Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.


name: autosomal recessive nonsyndromic hearing loss 48

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.


Kennedy disease

description: Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


juvenile Huntington disease

description: Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


cardiocutaneous syndrome

description: Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.


name: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

description: Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.


acrofacial dysostosis, Palagonia type

description: Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.


name: combined oxidative phosphorylation defect type 11

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


RAB18 deficiency

description: Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.


congenital heart block

description: Heart block that occurs on or before 28 days of life.


name: structural heart defects and renal anomalies syndrome


impaired renal function disease

description: Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.


Usher syndrome type 1H

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.


carotenemia

description: Increased serum carotenoids.


congenital factor VII deficiency

description: Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.


name: epidermolysis bullosa simplex with anodontia/hypodontia


glandular cystitis

description: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.


name: branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome


spinocerebellar ataxia type 28

description: Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.


hemoglobin C-beta-thalassemia syndrome

description: Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.


name: neurodevelopmental disorder with central hypotonia and dysmorphic facies


neonatal candidiasis

description: A fungal infection by any of the Candida species in a newborn infant up to 28 days old.


name: spinocerebellar ataxia, autosomal recessive 26


Tangier disease

description: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


visual cortex disorder

description: A disease involving the visual cortex.


name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

description: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.


name: neuropathy, with paraprotein in serum, cerebrospinal fluid and urine


adrenal gland myelolipoma

description: A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.


name: autosomal recessive epidermolytic ichthyosis


name: developmental and epileptic encephalopathy 106


name: blepharo naso facial syndrome van Maldergem type

description: A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.


name: amelia and terminal transverse hemimelia


vasculitis, lymphocytic, nodular

description: Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.


name: total circumpapillary dystrophy of choroid


name: developmental and epileptic encephalopathy, 72


retinitis pigmentosa 51

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.


pericardial tuberculosis

description: Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.


vascular brain injury

description: Damage to the blood vessels of the brain


name: Bryant-Li-Bhoj neurodevelopmental syndrome 2


craniodiaphyseal dysplasia

description: Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.


name: cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction


pulmonary adenomatosis, ovine

description: A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.


Melhem-Fahl syndrome

description: Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.


name: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


name: neurodevelopmental disorder with language delay and variable cognitive abnormalities


name: autosomal dominant complex spastic paraplegia type 9B


nemaline myopathy 10

description: Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


name: spondyloepimetaphyseal dysplasia, Isidor type


lissencephaly 4

description: Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.


neurovascular disorder

description: A disorder of the nervous system related to a vascular etiology.


tuberculosis, avian

description: A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.


thyrotoxic periodic paralysis

description: Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.


hypoglossal nerve neoplasm

description: A neoplasm involving a hypoglossal nerve.


name: acute myeloid leukemia, t(11;19)(q23;p13.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)


name: Charcot-Marie-Tooth disease recessive intermediate B

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


name: MME-related autosomal dominant Charcot Marie Tooth disease type 2


name: mitochondrial complex 4 deficiency, nuclear type 15


acrofacial dysostosis Cincinnati type

description: Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


description: A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.


Warburg micro syndrome 2

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


jugular foramen meningioma

description: A meningioma that affects the jugular foramen.


Alzheimer disease 19

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


asphyxiating thoracic dystrophy 1

description: An asphyxiating thoracic dystrophy associated with variation in the region 15q13.


non-hodgkin lymphoma, domestic cat

description: Non-hodgkin lymphoma that occurs in domestic cat.


van der Woude syndrome 2

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.


name: autosomal dominant nonsyndromic hearing loss 51

description: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


Crandall syndrome

description: This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.


description: A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.


name: splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells


name: uterine corpus perivascular epithelioid cell tumor

description: A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.


name: ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability


name: isolated growth hormone deficiency type IB

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


contact dermatitis due to nickel

description: A form of allergic contact dermatitis that results from exposure to nickel


name: syndromic X-linked intellectual disability Snyder type

description: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


name: immunodeficiency 109 with lymphoproliferation


name: combined oxidative phosphorylation deficiency 44


arterial thoracic outlet syndrome

description: Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


schizophrenia 8

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

description: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.


name: neurodevelopmental disorder with infantile epileptic spasms


coxoauricular syndrome

description: Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.


name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome

description: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


chromosome 17p13.3 duplication syndrome

description: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


name: headache associated with sexual activity


adult acne

description: Acne that occurs in an adult.


isolated cleft lip

description: Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


pediatric extraocular retinoblastoma

description: Retinoblastoma during childhood that has spread beyond the eye.


name: corticosterone methyloxidase type 1 deficiency


name: polyposis, intestinal, with multiple exostoses


name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

description: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.


Binder syndrome

description: A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.


name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


radio-renal syndrome

description: Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.


name: autosomal dominant Charcot-Marie-Tooth disease type 2M

description: Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


name: inborn disorder of lysosomal amino acid transport


cleft lip-retinopathy syndrome

description: Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.


name: hearing loss, sensorineural, autosomal-mitochondrial type


Phelan-McDermid syndrome

description: Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


childhood malignant neoplasm

description: A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).


name: myopathy, congenital, progressive, with scoliosis


name: non-syndromic anorectal malformation with rectourethral fistula, prostatic type


name: benign partial epilepsy of infancy with complex partial seizures

description: Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.


name: muscular dystrophy, limb-girdle, autosomal recessive 27


psammomatous meningioma

description: A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.


name: follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts


name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect


name: chromosome 22q11.2 deletion syndrome, distal

description: Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


name: mitochondrial complex 1 deficiency, nuclear type 9


nephronophthisis 15

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


multiple synostoses syndrome

description: Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.


name: synchronous multifocal osteogenic sarcoma

description: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.


cataract - microcornea syndrome

description: Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.


name: ataxia-telangiectasia with generalized skin pigmentation and early death


chromosome 16p13.3 duplication syndrome

description: 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.


osteogenesis imperfecta type 14

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


spermatogenic failure 13

description: Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.


name: acute myeloid leukemia, FLT3 internal tandem duplication

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)


name: combined oxidative phosphorylation deficiency 55


acute salpingitis

description: Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


name: microcephaly 14, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.


choroid cancer

description: A malignant neoplasm involving the optic choroid.


name: ceroid lipofuscinosis, neuronal, 4 (Kufs type)

description: A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


name: autosomal recessive combined immunodeficiency due to IL6R deficiency


name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome


acute tonsillitis

description: An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.


necrobiosis lipoidica

description: Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.


muscular dystrophy, Duchenne type, dog

description: Muscular dystrophy, Duchenne type that occurs in dog.


name: benign childhood occipital epilepsy, Gastaut type

description: A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.


anterior segment dysgenesis 8

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.


spinal muscular atrophy, type IV

description: Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


name: Charcot-Marie-Tooth Disease, axonal, type 2GG

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.


name: autosomal dominant nonsyndromic hearing loss 44

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.


secondary mast cell activation syndrome

description: Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.


name: intellectual disability-balding-patella luxation-acromicria syndrome

description: Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.


name: intellectual disability, autosomal dominant


Norum disease

description: A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


primary essential cutis verticis gyrata

description: Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.


name: autosomal recessive spinocerebellar ataxia 18

description: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.


name: Bicervical bicornuate uterus with patent cervix and vagina


primary ciliary dyskinesia 3

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.


name: diaphragmatic hernia-short bowel-asplenia syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.


cancer or benign tumor

description: Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


name: autonomic nervous system benign neoplasm


name: complex cortical dysplasia with other brain malformations 1

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.


kyphomelic dysplasia

description: Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.


lymphoepithelial-like carcinoma

description: Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.


frontal sinusitis

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


nervous system benign neoplasm

description: Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).


name: acute poisoning by drugs with membrane-stabilizing effect

description: Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.


name: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


name: mitochondrial complex 4 deficiency, nuclear type 17


myofibrillar myopathy 2

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


name: inborn disorder of glycine and serine metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.


name: intellectual disability, autosomal dominant 38

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.


name: capillary malformation-arteriovenous malformation 2


description: This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


name: hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase


Perry syndrome

description: Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.


name: autosomal recessive ataxia due to PEX16 deficiency


autotopagnosia

description: An agnosia that is a loss of the ability to orient parts of the body.


Usher syndrome type 3A

description: Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.


description: A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.


vulvar leiomyosarcoma

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


KINSSHIP syndrome

description: A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.


thrombocythemia 2

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


periosteal chondroma

description: A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.


name: extrasystoles short stature hyperpigmentation microcephaly


sclerosteosis 1

description: Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.


guttate psoriasis

description: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.


voyeurism

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.


Charcot-Marie-Tooth disease type 4K

description: SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).


name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.


peritoneal solitary fibrous tumor

description: A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.


description: Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.


name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis


Kummell disease

description: A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.


pemphigus vulgaris

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).


nephrotic syndrome, type 13

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.


name: epidermolysis bullosa, junctional 3B, severe


name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type

description: Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.


cutaneous anthrax

description: An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.


fibroepithelial polyp of urethra

description: A benign polypoid lesion of mesodermal origin that arises from the urethra.


myxoid glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.


arteriosclerotic retinopathy

description: A arteriosclerosis disorder that involves the retina.


photosensitive epilepsy

description: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


name: lymphedema-cerebral arteriovenous anomaly syndrome

description: Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.


name: hypertrophic osteoarthropathy, primary, autosomal dominant


name: coronary artery disease, autosomal dominant, 1

description: Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.


name: congenital pulmonary airway malformation type 1


Leri-Weill dyschondrosteosis

description: Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.


name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


Neuhauser anomaly

description: Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).


ring chromosome 4

description: Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.


name: diffuse leptomeningeal glioneuronal tumor

description: A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.


primary hyperoxaluria type 3

description: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


tenosynovitis

description: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.


narcolepsy 7

description: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


childhood electroclinical syndrome

description: A electroclinical syndrome that occurs during childhood.


name: spastic paraplegia 79A, autosomal dominant, with ataxia


annular lichen planus

description: Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.


name: autoinflammatory syndrome with immunodeficiency

description: An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.


attenuated Chédiak-Higashi syndrome

description: Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.


spastic ataxia 1

description: Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.


name: self-limited familial infantile epilepsy

description: This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


cone-rod dystrophy 6

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


polyrrhinia

description: Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.


name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

description: Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.


acquired peripheral neuropathy

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


name: deafness, cataract, impaired intellectual development, and polyneuropathy


description: X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.


leg dermatosis

description: A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)


Joubert syndrome 16

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


distal trisomy 6p

description: Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.


endemic goiter

description: Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.


name: neurodevelopmental disorder with visual defects and brain anomalies


essential fructosuria

description: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


name: autosomal recessive nonsyndromic hearing loss 13

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


congenital hypothyroidism, chicken

description: Congenital hypothyroidism that occurs in chicken.


parietal foramina 1

description: Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.


skull base neoplasm

description: A benign or malignant neoplasm that affects the skull base.


name: PAX5-related B lymphopenia and autism spectrum disorder

description: PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


name: acute myeloid leukemia, t(6;9)(p23;q34.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


lacrimal apparatus disorder

description: A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.


chromosome 17 disorder

description: Chromosomal disorder in which chromosome 17 is affected.


name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


myoclonic dystonia 26

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


name: high-grade neuroendocrine carcinoma of the corpus uteri

description: High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.


name: intellectual disability, autosomal recessive 63


idiopathic acute transverse myelitis

description: Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


name: partial duplication of the long arm of chromosome 14


osteogenesis imperfecta type 7

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


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome