hereditary spastic paraplegia 37

description: Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.


name: endometrioid stromal and related neoplasms of the vagina

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

description: A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.


RP1-related recessive retinopathy

description: An autosomal dominant retinopathy caused by variants in the RP1 gene.


chromosome 17q12 duplication syndrome

description: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.


name: congenital benign spinal muscular atrophy dominant


cavitary myiasis

description: Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.


name: myopathy, epilepsy, and progressive cerebral atrophy


angiomyxoma

description: A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.


NARP syndrome

description: Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.


name: keratosis palmaris et plantaris-clinodactyly syndrome

description: Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.


name: inborn disorder of phenylalanine and tyrosine metabolism


description: Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.


description: Tricho-dento-osseous-like syndrome that occurs in cattle.


inherited Fanconi renotubular syndrome

description: An instance of Fanconi renotubular syndrome that is inherited.


pancytopenia due to IKZF1 mutations

description: Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.


name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


action myoclonus-renal failure syndrome

description: Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.


name: intellectual disability, autosomal recessive 28


name: facial paresis, hereditary congenital, 1


rapadilino syndrome

description: RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.


skin sarcoidosis

description: Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.


name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


name: interstitial granulomatous dermatitis with arthritis

description: Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.


name: medium chain acyl-CoA dehydrogenase deficiency

description: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


name: epilepsy of infancy with migrating focal seizures

description: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.


iris disorder

description: A disease involving the iris.


name: myopathy, congenital, with excess of muscle spindles


acquired laryngomalacia

description: A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.


classical swine fever

description: An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.


name: congenital disorder of glycosylation, type IIaa


name: familial juvenile hyperuricemic nephropathy type 2

description: Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).


name: melanoma, cutaneous malignant, susceptibility to, 4


hereditary spastic paraplegia 8

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.


name: mitochondrial complex 1 deficiency, nuclear type 11


name: autosomal recessive nonsyndromic hearing loss 65

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.


name: microcephaly, retinitis pigmentosa, and sutural cataract


episodic ataxia type 2

description: Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.


spotted fever

description: A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.


bovine rectal myxoma

description: A myxoma that occurs in the rectum of a cow.


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

description: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.


name: fibular hypoplasia scapulo pelvic dysplasia absent


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.


name: epidermolysis bullosa with diaphragmatic hernia


name: encephalopathy due to hydroxykynureninuria

description: Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.


15q14 microdeletion syndrome

description: 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.


lymphatic malformation 1

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.


name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

description: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.


Usher syndrome type 1K

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.


CHEK2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.


name: split-hand/foot malformation with long bone deficiency 2


description: X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome.


primary cutaneous amyloidosis

description: Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


name: autosomal dominant nocturnal frontal lobe epilepsy 3

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.


hereditary spastic paraplegia 75

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


desmoplastic small round cell tumor

description: Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.


thromboangiitis obliterans

description: A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.


9p13 microdeletion syndrome

description: 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).


name: hereditary thrombophilia due to congenital protein S deficiency

description: Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.


name: rhabdoid tumor predisposition syndrome 1

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.


cardiomyopathy, goat

description: Cardiomyopathy that occurs in goat.


name: secondary hypoparathyroidism due to impaired parathormon secretion


miliary tuberculosis

description: I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.


name: intellectual disability, autosomal recessive 34

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


atypical depressive disorder

description: A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.


soft tissue amyloid neoplasm

description: A soft tissue neoplasm composed of acellular amyloid material.


hypotonic cerebral palsy

description: A type of cerebral palsy characterized by decreased muscle tone.


name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form


name: hemolytic anemia due to adenylate kinase deficiency

description: Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


name: murine acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.


name: intrauterine growth restriction-short stature-early adult-onset diabetes syndrome


name: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


name: hypogonadotropic hypogonadism 9 with or without anosmia

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


Alexander disease

description: Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


Hb Bart's hydrops fetalis

description: Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).


factor VII deficiency, Asiatic elephant

description: Factor VII deficiency that occurs in Asiatic elephant.


primary ciliary dyskinesia 2

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.


pernicious anemia

description: Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.


hereditary periodic fever syndrome

description: An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.


name: microcephaly 6, primary, autosomal recessive

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


Charcot-Marie-Tooth disease type 2J

description: Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


atherosclerosis, dog

description: Atherosclerosis that occurs in dog.


name: autosomal recessive nonsyndromic hearing loss 45

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.


name: thickened earlobes-conductive deafness syndrome

description: Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.


amyotrophic lateral sclerosis type 12

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


chromosome 19p13.13 deletion syndrome

description: 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).


name: cloverleaf skull-multiple congenital anomalies syndrome

description: This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.


cognitive disorder

description: A disease affects cognitive processes.


osteogenesis imperfecta type 13

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.


cystic fibrosis, non-human animal

description: Cystic fibrosis that occurs in non-human animals.


neuroendocrine disorder

description: A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.


C syndrome

description: C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.


coloboma, Mexican tetra

description: Coloboma that occurs in Mexican tetra.


name: atrichia with papular lesions, Rhesus monkey

description: Atrichia with papular lesions that occurs in Rhesus monkey.


description: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: intellectual disability, X-linked, with or without seizures, arx-related


familial lipoprotein lipase deficiency

description: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.


iris cancer

description: A malignant neoplasm involving the iris.


name: hereditary hemorrhagic telangiectasia type 4


lymphosarcoma, non-human animal

description: Lymphosarcoma that occurs in non-human animals.


name: hyperinsulinemic hypoglycemia, familial, 8


vaginal melanoma

description: A primary malignant neoplasm of the vagina composed of malignant melanocytes.


name: hyperphosphatasia with intellectual disability syndrome 6

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.


name: multinodular and vacuolating neuronal tumor

description: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.


hereditary spastic paraplegia 3A

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis


myotonic dystrophy, Japanese quail

description: Myotonic dystrophy that occurs in Japanese quail.


name: radioulnar synostosis, radial ray abnormalities, and severe malformations in the male


TSPAN12-related vitreoretinopathy

description: A vitreoretinopathy caused by variants in the TSPAN12 gene.


parametritis

description: Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.


occlusion precerebral artery

description: Evidence of occlusion and stenosis of unspecified precerebral artery.


name: hypophosphatemic rickets, autosomal recessive, 1

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.


name: hypogonadotropic hypogonadism 25 with anosmia


cataract 39 multiple types

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


name: developmental and epileptic encephalopathy, 70


trypanosomiasis, bovine

description: Infection in cattle caused by various species of trypanosomes.


Ascher syndrome

description: Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.


heterophyiasis

description: An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


hereditary spherocytosis type 4

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.


name: microcephaly 19, primary, autosomal recessive


streptococcal toxic-shock syndrome

description: Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.


name: autosomal recessive ataxia due to ubiquinone deficiency

description: This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.


name: autoimmune disorder of peripheral nervous system

description: A hypersensitivity reaction type II disease that involves the peripheral nervous system.


cystic fibrosis, domestic ferret

description: Cystic fibrosis that occurs in domestic ferret.


description: Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.


name: familial clubfoot due to PITX1 point mutation


von Willebrand disease 3

description: Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).


name: chronic neurovisceral acid sphingomyelinase deficiency


20p13 microdeletion syndrome

description: 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.


atrial septal defect 6

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.


solitary osseous plasmacytoma

description: A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.


cone-rod dystrophy 5

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.


TTN-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.


piedra

description: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.


alopecia areata, horse

description: Alopecia areata that occurs in horse.


uterine corpus adenocarcinofibroma

description: A adenocarcinofibroma that involves the body of uterus.


isolated congenital ectropion

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


mesomelic dysplasia, Kantaputra type

description: Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.


name: autoimmune disorder of central nervous system

description: A hypersensitivity reaction type II disease that involves the central nervous system.


retinitis pigmentosa 17

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.


vitelliform macular dystrophy 2

description: Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.


scrotal disorder

description: A disease or disorder that involves the scrotum.


TEK-related primary glaucoma

description: Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.


name: intellectual disability, autosomal recessive 14

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


name: mucopolysaccharidosis type 6, slowly progressing


complete trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.


benign vaginal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.


name: neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


name: partial trisomy of the long arm of chromosome 20


description: A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.


name: disorder of fatty acid oxidation and ketogenesis


oocyte maturation defect 4

description: An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.


chronic conjunctivitis

description: Conjunctivitis that is persistent and long-standing.


cerebral palsy, spastic quadriplegic, 2

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.


isolated focal cortical dysplasia

description: Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.


name: hypertrophic cardiomyopathy, woolly monkeys

description: Hypertrophic cardiomyopathy that occurs in woolly monkeys.


Senior-Loken syndrome 8

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: microcytic anemia with liver iron overload

description: Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.


name: keratosis follicularis-dwarfism-cerebral atrophy syndrome

description: A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.


name: cone-rod synaptic disorder syndrome, congenital nonprogressive


isolated microphthalmia 8

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.


acute dacryoadenitis

description: Acute form of dacryoadenitis.


acquired hyperprolactinemia

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


name: dyskeratosis congenita, autosomal recessive 1

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.


name: amelogenesis imperfecta hypomaturation type 2A3

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.


brachydactyly type B

description: A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.


primary cutaneous lymphoma

description: Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.


description: Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.


name: factor 9 and Factor XI, combined deficiency of


epithelioid type angiomyolipoma

description: An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.


name: idiopathic multicentric Castleman disease


femoral-facial syndrome

description: Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.


intraocular medulloepithelioma

description: Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.


glycogen storage disease IXd

description: A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.


name: amelogenesis imperfecta hypomaturation type 2A2

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.


name: short-rib thoracic dysplasia 11 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.


nodular lichen myxedematosus

description: Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.


name: autosomal recessive nonsyndromic hearing loss 104

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.


name: developmental and epileptic encephalopathy, 53


corneal dystrophy, Fuchs endothelial, 6

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


hereditary spastic paraplegia 29

description: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.


hypertrophic cardiomyopathy, cattle

description: Hypertrophic cardiomyopathy that occurs in cattle.


name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type

description: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.


name: sudden infant death-dysgenesis of the testes syndrome

description: Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.


sterol metabolism disorder

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


PALB2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.


acute laryngopharyngitis

description: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.


lymphosarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.


name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect


Johnson neuroectodermal syndrome

description: Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


chondromalacia patellae

description: Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.


name: neurodevelopmental disorder with seizures and brain abnormalities


congenital hypothyroidism, sheep

description: Congenital hypothyroidism that occurs in sheep.


benign soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the soft tissue.


mosaic trisomy 15

description: Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.


name: cardiovascular disorder, non-human animal

description: Cardiovascular disorder that occurs in non-human animals.


name: neurodevelopmental disorder with language impairment and behavioral abnormalities


Pelger-Huet anomaly, domestic cat

description: Pelger-Huet anomaly that occurs in domestic cat.


name: glycogen storage disorder due to hepatic glycogen synthase deficiency

description: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.


essential hypertension, genetic

description: An instance of essential hypertension that is caused by a modification of the individual's genome.


name: polymicrogyria with optic nerve hypoplasia

description: A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.


Feingold syndrome type 2

description: Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.


brain injury

description: Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.


name: amelia cleft lip palate hydrocephalus iris coloboma


background diabetic retinopathy

description: An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.


vitamin B deficiency

description: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


branchiogenic deafness syndrome

description: Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.


familial hypofibrinogenemia

description: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.


childhood brain meningioma

description: A brain meningioma that occurs during childhood.


name: epidermolysis bullosa dystrophica with subcorneal cleavage


spinocerebellar ataxia type 1

description: Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.


name: SLC35A1-congenital disorder of glycosylation

description: SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 3


name: dyssegmental dysplasia, Rolland-Desbuquois type


name: early-onset obesity-hyperphagia-severe developmental delay syndrome


name: Ehlers-Danlos syndrome, vascular-like type

description: Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.


familial thrombocytosis

description: Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.


gastric antral vascular ectasia

description: Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.


syndactyly, non-human animal

description: Syndactyly that occurs in non-human animals.


alveolar echinococcosis

description: Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.


name: Kallmann syndrome-heart disease syndrome

description: Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.


basal laminar drusen

description: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.


name: melanoma in congenital melanocytic nevus

description: A melanoma of the skin arising in a congenital melanocytic nevus.


name: melanoma, cutaneous malignant, susceptibility to, 2

description: Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)


name: autosomal recessive nonsyndromic hearing loss 85

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.


name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy


phenylketonuria

description: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


name: congenital pseudoarthrosis of the fibula


branchiootorenal syndrome 2

description: Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.


primary ciliary dyskinesia 26

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.


distal trisomy 2q

description: Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.


otofaciocervical syndrome

description: A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.


Aeromonas hydrophila infectious disease

description: Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.


name: Ehlers-Danlos syndrome due to tenascin-X deficiency


epidemic pleurodynia

description: An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.


sudden cardiac arrest

description: The sudden loss of all heart activity due to an irregular heart rhythm.


multibacillary leprosy

description: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.


name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


linear atrophoderma of Moulin

description: Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.


trichodysplasia-xeroderma syndrome

description: Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.


name: autosomal dominant nonsyndromic hearing loss 59

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.


name: combined oxidative phosphorylation defect type 25

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.


atypical lymphoproliferative disorder

description: A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.


name: selective pituitary resistance to thyroid hormone

description: Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.


estrogen resistance syndrome

description: Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.


hydrosalpinx

description: Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.


name: idiopathic pulmonary arterial hypertension

description: Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.


neoplasm of hypopharynx

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


name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


name: arthrogryposis multiplex congenita CNS calcification

description: A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.


cutaneous mastocytoma

description: Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


name: camptodactyly-tall stature-scoliosis-hearing loss syndrome

description: Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.


name: spondyloepimetaphyseal dysplasia, di rocco type


Mikati-Najjar-Sahli syndrome

description: Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).


presbyopia

description: The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.


choroideremia-deafness-obesity syndrome

description: Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.


hereditary spastic paraplegia 18

description: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.


name: round cell sarcoma with FUS-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.


name: periodic paralysis with later-onset distal motor neuropathy


name: combined oxidative phosphorylation defect type 8

description: Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.


motor nerve neuritis

description: Inflammation of the peripheral motor nerves.


benign neoplasm of brain

description: A benign neoplasm that involves the brain.


reproductive system cancer

description: A malignant neoplasm involving the reproductive organ


dermoid cyst of skin

description: A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.


name: non-specific autoimmune cerebellar ataxia without characteristic antibodies


reducing body myopathy

description: Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.


trigeminal nerve disorder

description: A disease involving the trigeminal nerve.


cervical dermoid cyst

description: Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.


name: hydrocephaly-tall stature-joint laxity syndrome

description: Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.


vaginal carcinosarcoma

description: An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.


name: intellectual disability, autosomal recessive 45

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.


name: cleft palate heart disease polydactyly absent tibia


name: multiple cutaneous and mucosal venous malformations

description: Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.


name: congenital absence of both lower leg and foot


acute retrobulbar neuritis

description: Acute form of retrobulbar neuritis.


name: multiple epiphyseal dysplasia, Beighton type

description: Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA

description: Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.


acro-renal-mandibular syndrome

description: Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.


16q24.1 microdeletion syndrome

description: 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


Lown-Ganong-Levine syndrome

description: Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).


name: spastic paraplegia-precocious puberty syndrome

description: Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.


lichen nitidus

description: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.


name: amyotrophic lateral sclerosis type 2, juvenile

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.


name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome


uterus intravascular leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.


name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


glomerulonephritis, non-human animal

description: Glomerulonephritis that occurs in non-human animals.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

description: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


name: acute anterolateral myocardial infarction

description: Acute form of anterolateral myocardial infarction.


citrullinemia type II

description: Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


benign neoplasm of lower jaw bone

description: A benign neoplasm that involves the bone of lower jaw.


name: neurodegeneration with brain iron accumulation 5

description: Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.


schizophrenia 3

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


rhinophyma

description: Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


disorder of pilosebaceous unit

description: A disease that involves the pilosebaceous unit.


necrotizing fasciitis

description: Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.


cone-rod dystrophy 15

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.


isolated microphthalmia 6

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.


Lyme disease

description: Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.


hypereosinophilic syndrome, dog

description: Hypereosinophilic syndrome that occurs in dog.


hypomyelinating leukodystrophy 12

description: Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.


name: ectrodactyly of lower limbs, congenital heart defect, and micrognathia


autoimmune thrombocytopenic purpura

description: An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.


hemiparkinsonism-hemiatrophy syndrome

description: Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.


hearing loss with skin disease

description: Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


TPM2-related myopathy

description: A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.


name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

description: Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.


name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7)


name: muscular dystrophy-dystroglycanopathy type B6

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


name: intellectual developmental disorder with hypertelorism and distinctive facies


tibial hemimelia

description: Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.


name: isolated focal non-epidermolytic palmoplantar keratoderma


name: hypotonia-failure to thrive-microcephaly syndrome

description: Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.


distal monosomy 7q36

description: Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.


Kilquist syndrome

description: An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.


name: Bosch-Boonstra-Schaaf optic atrophy syndrome

description: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


name: congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

description: A benign neoplasm that involves the sense organ.


name: POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

description: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.


split hand, domestic cat

description: Split hand that occurs in domestic cat.


Osebold-Remondini syndrome

description: A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.


spitzoid melanoma

description: A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


streptococcal sore throat

description: Inflammation of the throat due to Streptococcus pyogenes.


name: alpha-N-acetylgalactosaminidase deficiency type 2

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

description: A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.


baroreflex failure

description: Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.


diabetic autonomic neuropathy

description: Autonomic neuropathy that is caused by diabetes mellitus.


polyp of vulva

description: A polyp that involves the mammalian vulva.


chordoid meningioma

description: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.


hyperprolinemia type 1

description: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


name: frontotemporal dementia with motor neuron disease

description: Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.


synovium neoplasm

description: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.


auditory system cancer

description: A malignant neoplasm involving the auditory system


name: carbamoyl phosphate synthetase I deficiency disease

description: Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.


name: congenital myopathy with myasthenic-like onset

description: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.


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


name: congenital systemic arteriovenous fistula


name: papillomatosis, confluent and reticulated


retinitis pigmentosa 28

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.


orofacial cleft 5

description: Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.


name: autosomal recessive congenital ichthyosis 11


mitochondrial DNA depletion syndrome 13

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.


muscular channelopathy

description: A channelopathy that involves the muscle tissue.


name: urolithiasis, uric acid, autosomal dominant


aniseikonia

description: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


name: spondyloepimetaphyseal dysplasia, Missouri type

description: A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.


Rothmund-Thomson syndrome type 1

description: Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.


myopathy, centronuclear, 2

description: Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.


name: alacrima, achalasia, and intellectual disability syndrome


diffuse cutaneous mastocytosis

description: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


name: B-cell childhood acute lymphoblastic leukemia

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


lymphoplasmacyte-rich meningioma

description: A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.


adiposis dolorosa

description: Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


Nijmegen breakage syndrome

description: Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.


sexually transmitted disease

description: A Disease due to or propagated by sexual contact.


description: Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.


name: early-onset posterior subcapsular cataract


azoospermia, non-human animal

description: Azoospermia that occurs in non-human animals.


patent ductus arteriosus, horse

description: Patent ductus arteriosus that occurs in horse.


name: autosomal recessive cerebellar ataxia with late-onset spasticity

description: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.


parastremmatic dwarfism

description: Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.


synovial bursa disorder

description: A disease or disorder that involves the synovial bursa.


juvenile ankylosing spondylitis

description: Ankylosing spondylitis occurring in children or adolescents.


name: microcephaly 29, primary, autosomal recessive


name: recessive dystrophic epidermolysis bullosa inversa

description: Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.


nephrosis

description: Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.


Treacher Collins syndrome 3

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.


name: ovarian cancer, familial, susceptibility to, 3


benign fibrous histiocytoma

description: A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.


incontinentia pigmenti, horse

description: Incontinentia pigmenti that occurs in horse.


name: epileptic encephalopathy, infantile or early childhood, 1


TUBB2A-related tubulinopathy

description: A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


childhood malignant mesenchymoma

description: A malignant mesenchymoma occurring in children.


name: adult type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.


ABeta amyloidosis, Arctic type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

description: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


name: neuromuscular disease and ocular or auditory anomalies with or without seizures


name: combined oxidative phosphorylation deficiency 46


name: food protein-induced enterocolitis syndrome

description: An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


name: autosomal recessive intermediate Charcot-Marie-Tooth disease

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


petrous apex meningioma

description: A meningioma that affects the petrous apex.


name: hereditary hyperferritinemia with congenital cataracts

description: Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.


May-Thurner syndrome

description: A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


brachydactyly type B2

description: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


urolithiasis, Javan langur

description: Urolithiasis that occurs in Javan langur.


name: acute lymphoblastic leukemia congenital sporadic aniridia

description: A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.


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

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)


name: autoinflammatory syndrome due to TBK1 deficiency

description: Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


acquired schizencephaly

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


benign neoplasm of adrenal gland

description: A benign neoplasm that involves the adrenal gland.


name: cleft palate-short stature-vertebral anomalies syndrome

description: Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.


factor XII deficiency, dog

description: Factor XII deficiency that occurs in dog.


name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

description: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.


name: succinic semialdehyde dehydrogenase deficiency, non-human animal

description: Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.


myiasis

description: The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.


name: developmental and epileptic encephalopathy, 81


Ullrich congenital muscular dystrophy

description: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


radial hemimelia

description: Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


fasciolopsiasis

description: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.


name: muscular dystrophy, limb-girdle, autosomal recessive 26


name: infantile-onset ascending hereditary spastic paralysis

description: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.


name: hypothyroidism due to iodide transport defect

description: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


name: thrombophilia due to protein S deficiency, autosomal dominant

description: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.


nanophthalmos 4

description: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


name: renal hypoplasia, bilateral, non-human animal

description: Renal hypoplasia, bilateral that occurs in non-human animals.


actinobacillosis

description: A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.


coccidiosis

description: A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.


name: autosomal dominant nonsyndromic hearing loss 28

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.


orbital pseudotumor

description: A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).


Far-East scarlet-like fever

description: A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


exudative vitreoretinopathy 5

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.


name: multiple mitochondrial dysfunctions syndrome 4

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


tick-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


akinetopsia

description: An agnosia that is a loss of motion perception.


mullerian aplasia and hyperandrogenism

description: Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.


name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

description: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


urofacial syndrome 2

description: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.


description: Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.


achondroplasia, sheep

description: Achondroplasia that occurs in sheep.


HSD10 mitochondrial disease

description: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


chronic endophthalmitis

description: Chronic form of endophthalmitis.


name: muscular dystrophy, Hemizygous lethal type


name: unilateral aplasia of the mullerian ducts


Kienbock disease

description: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


name: chronic relapsing inflammatory optic neuropathy

description: A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.