familial renal glucosuria

Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).


platelet-type von Willebrand disease

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A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.


furuncular myiasis

Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).


microcephalic osteodysplastic primordial dwarfism


Gomez-Lopez-Hernandez syndrome

A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.


zinc-responsive necrolytic acral erythema


cardiovascular cancer

A primary or metastatic malignant neoplasm involving the cardiovascular system.


amelogenesis imperfecta type 1G

An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.


sebaceous gland anomaly

A epidermal appendage anomaly that involves the sebaceous gland.


inborn disorder of serine family metabolism

An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.


Bicervical bicornuate uterus and blind hemivagina


qualitative or quantitative protein defects in neuromuscular diseases


familial hyperaldosteronism

Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.


tooth agenesis, selective, 7

Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.


melorheostosis with osteopoikilosis

Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.


peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


platelet-type bleeding disorder 12

An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.


parietal foramina with cleidocranial dysplasia

Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.


trombiculiasis

Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.


Nematoda infectious disease

Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.


epiphyseal dysplasia, multiple, 6

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.


familial Dupuytren contracture

Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).


spondyloepiphyseal dysplasia congenita

A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.


transaldolase deficiency

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.


axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


Adams-Oliver syndrome 3

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


This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.


KBG syndrome

KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.


isolated scaphocephaly

Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.


peeling skin syndrome 1

Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.


pneumonic pasteurellosis

Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.


dyskeratosis congenita, X-linked

X-linked form of dyskeratosis congenita.


hereditary spastic paraplegia 37

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.


endometrioid stromal and related neoplasms of the vagina

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


RP1-related recessive retinopathy

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


chromosome 17q12 duplication syndrome

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.


cavitary myiasis

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.


angiomyxoma

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


keratosis palmaris et plantaris-clinodactyly syndrome

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.


inborn disorder of phenylalanine and tyrosine metabolism


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.


inherited Fanconi renotubular syndrome

An instance of Fanconi renotubular syndrome that is inherited.


pancytopenia due to IKZF1 mutations

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


intellectual disability, autosomal recessive 28


facial paresis, hereditary congenital, 1


rapadilino syndrome

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.


Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


bone marrow neoplasm

Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).


interstitial granulomatous dermatitis with arthritis

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.


epilepsy of infancy with migrating focal seizures

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.


acquired laryngomalacia

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


congenital disorder of glycosylation, type IIaa


familial juvenile hyperuricemic nephropathy type 2

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).


hereditary spastic paraplegia 8

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


mitochondrial complex 1 deficiency, nuclear type 11


autosomal recessive nonsyndromic hearing loss 65

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


episodic ataxia type 2

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

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


autosomal dominant limb-girdle muscular dystrophy type 1F

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.


radioulnar synostosis with amegakaryocytic thrombocytopenia 1

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


encephalopathy due to hydroxykynureninuria

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.


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.


15q14 microdeletion syndrome

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


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

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

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


split-hand/foot malformation with long bone deficiency 2


hereditary spastic paraplegia 75

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


miliary tuberculosis

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.


desmoplastic small round cell tumor

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

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

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).


hereditary thrombophilia due to congenital protein S deficiency

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.


secondary hypoparathyroidism due to impaired parathormon secretion


intellectual disability, autosomal recessive 34

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


atypical depressive disorder

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

A soft tissue neoplasm composed of acellular amyloid material.


hypotonic cerebral palsy

A type of cerebral palsy characterized by decreased muscle tone.


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


hemolytic anemia due to adenylate kinase deficiency

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.


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


hypogonadotropic hypogonadism 9 with or without anosmia

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


microcephalic primordial dwarfism-insulin resistance syndrome


Alexander disease

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

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.


pure or complex autosomal recessive spastic paraplegia


primary ciliary dyskinesia 2

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


pernicious anemia

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

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


microcephaly 6, primary, autosomal recessive

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

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.


autosomal recessive nonsyndromic hearing loss 45

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


amyotrophic lateral sclerosis type 12

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


chromosome 19p13.13 deletion syndrome

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).


cloverleaf skull-multiple congenital anomalies syndrome

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


osteogenesis imperfecta type 13

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


neuroendocrine disorder

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

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.


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.


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


familial lipoprotein lipase deficiency

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

A malignant neoplasm involving the iris.


hyperinsulinemic hypoglycemia, familial, 8


vaginal melanoma

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


hyperphosphatasia with intellectual disability syndrome 6

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


multinodular and vacuolating neuronal tumor

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

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


TSPAN12-related vitreoretinopathy

A vitreoretinopathy caused by variants in the TSPAN12 gene.


parametritis

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.


hypophosphatemic rickets, autosomal recessive, 1

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


hypogonadotropic hypogonadism 25 with anosmia


cataract 39 multiple types

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


heterophyiasis

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

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


microcephaly 19, primary, autosomal recessive


streptococcal toxic-shock syndrome

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.


autosomal recessive ataxia due to ubiquinone deficiency

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


autoimmune disorder of peripheral nervous system

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


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.


familial clubfoot due to PITX1 point mutation


von Willebrand disease 3

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).


chronic neurovisceral acid sphingomyelinase deficiency


retinal drusen

Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.


non-syndromic urogenital tract malformation of female

A non-syndromic urogenital tract malformation that involves the female organism.


20p13 microdeletion syndrome

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

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


solitary osseous plasmacytoma

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

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


TTN-related myopathy

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

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.


uterine corpus adenocarcinofibroma

A adenocarcinofibroma that involves the body of uterus.


TEK-related primary glaucoma

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


mesomelic dysplasia, Kantaputra type

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


autoimmune disorder of central nervous system

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


retinitis pigmentosa 17

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


vitelliform macular dystrophy 2

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.


intellectual disability, autosomal recessive 14

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


mucopolysaccharidosis type 6, slowly progressing


complete trisomy 13

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


neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


partial trisomy of the long arm of chromosome 20


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.


Senior-Loken syndrome 8

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


oocyte maturation defect 4

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.


cerebral palsy, spastic quadriplegic, 2

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


isolated focal cortical dysplasia

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.


microcytic anemia with liver iron overload

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.


prurigo nodularis

Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.


isolated microphthalmia 8

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


acute dacryoadenitis

Acute form of dacryoadenitis.


acquired hyperprolactinemia

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


dyskeratosis congenita, autosomal recessive 1

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


amelogenesis imperfecta hypomaturation type 2A3

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


brachydactyly type B

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.


qualitative or quantitative defects of Torsin-1A-interacting protein 1


primary cutaneous lymphoma

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.


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


epithelioid type angiomyolipoma

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


idiopathic multicentric Castleman disease


femoral-facial syndrome

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


intraocular medulloepithelioma

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

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


amelogenesis imperfecta hypomaturation type 2A2

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


short-rib thoracic dysplasia 11 with or without polydactyly

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


sterol metabolism disorder

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


nodular lichen myxedematosus

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.


autosomal recessive nonsyndromic hearing loss 104

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


corneal dystrophy, Fuchs endothelial, 6

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


hereditary spastic paraplegia 29

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.


hereditary palmoplantar keratoderma, Gamborg-Nielsen type

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.


sudden infant death-dysgenesis of the testes syndrome

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


acute laryngopharyngitis

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


lymphosarcoma

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


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


Johnson neuroectodermal syndrome

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

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.


neurodevelopmental disorder with seizures and brain abnormalities


benign soft tissue neoplasm

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


mosaic trisomy 15

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.


neurodevelopmental disorder with language impairment and behavioral abnormalities


glycogen storage disorder due to hepatic glycogen synthase deficiency

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

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


polymicrogyria with optic nerve hypoplasia

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.


background diabetic retinopathy

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


familial hypofibrinogenemia

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

A brain meningioma that occurs during childhood.


epidermolysis bullosa dystrophica with subcorneal cleavage


spinocerebellar ataxia type 1

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.


SLC35A1-congenital disorder of glycosylation

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.


spondyloepimetaphyseal dysplasia with joint laxity, type 3


dyssegmental dysplasia, Rolland-Desbuquois type


Ehlers-Danlos syndrome, vascular-like type

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

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

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.


alveolar echinococcosis

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.


Kallmann syndrome-heart disease syndrome

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

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.


melanoma in congenital melanocytic nevus

A melanoma of the skin arising from a congenital melanocytic nevus.


autosomal recessive nonsyndromic hearing loss 85

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


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


congenital pseudoarthrosis of the fibula


primary ciliary dyskinesia 26

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


distal trisomy 2q

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.


Aeromonas hydrophila infectious disease

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


epidemic pleurodynia

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

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


multibacillary leprosy

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.


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


linear atrophoderma of Moulin

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

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.


autosomal dominant nonsyndromic hearing loss 59

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


combined oxidative phosphorylation defect type 25

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


atypical lymphoproliferative disorder

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


selective pituitary resistance to thyroid hormone

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

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

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


idiopathic pulmonary arterial hypertension

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

A neoplasm (disease) that involves the hypopharynx.


neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


cutaneous mastocytoma

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.


hereditary spastic paraplegia 18

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.


camptodactyly-tall stature-scoliosis-hearing loss syndrome

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.


spondyloepimetaphyseal dysplasia, di rocco type


choroideremia-deafness-obesity syndrome

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.


periodic paralysis with later-onset distal motor neuropathy


combined oxidative phosphorylation defect type 8

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.


reproductive system cancer

A malignant neoplasm involving the reproductive organ


dermoid cyst of skin

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


non-specific autoimmune cerebellar ataxia without characteristic antibodies


reducing body myopathy

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

A disease involving the trigeminal nerve.


cervical dermoid cyst

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.


vaginal carcinosarcoma

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.


intellectual disability, autosomal recessive 45

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


congenital absence of both lower leg and foot


acute retrobulbar neuritis

Acute form of retrobulbar neuritis.


multiple epiphyseal dysplasia, Beighton type

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.


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


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

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.


16q24.1 microdeletion syndrome

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).


spastic paraplegia-precocious puberty syndrome

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

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.


amyotrophic lateral sclerosis type 2, juvenile

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


uterus intravascular leiomyomatosis

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.


neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


acute anterolateral myocardial infarction

Acute form of anterolateral myocardial infarction.


citrullinemia type II

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

A benign neoplasm that involves the bone of lower jaw.


neurodegeneration with brain iron accumulation 5

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

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


rhinophyma

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.


autosomal dominant diffuse mutilating palmoplantar keratoderma


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

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.


resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta


cone-rod dystrophy 15

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


isolated microphthalmia 6

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


hypomyelinating leukodystrophy 12

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


autoimmune thrombocytopenic purpura

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

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

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

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.


mitochondrial complex V (ATP synthase) deficiency nuclear type 3

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


hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

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.


AP4-related intellectual disability and spastic paraplegia

A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.


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


muscular dystrophy-dystroglycanopathy type B6

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.


tibial hemimelia

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


isolated focal non-epidermolytic palmoplantar keratoderma


hypotonia-failure to thrive-microcephaly syndrome

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

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.


Bosch-Boonstra-Schaaf optic atrophy syndrome

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.


congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

A benign neoplasm that involves the sense organ.


POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

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


Osebold-Remondini syndrome

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

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)


alpha-N-acetylgalactosaminidase deficiency type 2

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.


baroreflex failure

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

Autonomic neuropathy that is caused by diabetes mellitus.


polyp of vulva

A polyp that involves the mammalian vulva.


chordoid meningioma

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


hyperprolinemia type 1

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).


frontotemporal dementia with motor neuron disease

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

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

A malignant neoplasm involving the auditory system


carbamoyl phosphate synthetase I deficiency disease

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.


congenital myopathy with myasthenic-like onset

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.


Prader-Willi syndrome due to paternal 15q11q13 deletion


retinitis pigmentosa 28

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


orofacial cleft 5

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


autosomal recessive congenital ichthyosis 11


mitochondrial DNA depletion syndrome 13

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


muscular channelopathy

A channelopathy that involves the muscle tissue.


aniseikonia

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.


spondyloepimetaphyseal dysplasia, Missouri type

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.


myopathy, centronuclear, 2

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


alacrima, achalasia, and intellectual disability syndrome


Nijmegen breakage syndrome

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.


syndromic lymphedema

A lymphedema that is part of a larger syndrome.


diffuse cutaneous mastocytosis

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).


B-cell childhood acute lymphoblastic leukemia

An acute B-lymphoblastic leukemia occurring in children.


lymphoplasmacyte-rich meningioma

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


adiposis dolorosa

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.


early-onset posterior subcapsular cataract


autosomal recessive cerebellar ataxia with late-onset spasticity

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

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


synovial bursa disorder

A disease or disorder that involves the synovial bursa.


microcephaly 29, primary, autosomal recessive


benign fibrous histiocytoma

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.


recessive dystrophic epidermolysis bullosa inversa

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.


Treacher Collins syndrome 3

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


TUBB2A-related tubulinopathy

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

A malignant mesenchymoma occurring in children.


adult type testicular granulosa cell tumor

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.


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

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.


combined oxidative phosphorylation deficiency 46


food protein-induced enterocolitis syndrome

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


autosomal recessive intermediate Charcot-Marie-Tooth disease

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


petrous apex meningioma

A meningioma that affects the petrous apex.


hereditary hyperferritinemia with congenital cataracts

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

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

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.


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

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.)


autoinflammatory syndrome due to TBK1 deficiency

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


acquired schizencephaly

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


benign neoplasm of adrenal gland

A benign neoplasm that involves the adrenal gland.


hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

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.


myiasis

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.


Ullrich congenital muscular dystrophy

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

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


fasciolopsiasis

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.


muscular dystrophy, limb-girdle, autosomal recessive 26


infantile-onset ascending hereditary spastic paralysis

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.


hypothyroidism due to iodide transport defect

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.


thrombophilia due to protein S deficiency, autosomal dominant

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


nanophthalmos 4

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


coccidiosis

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.


autosomal dominant nonsyndromic hearing loss 28

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


orbital plasma cell granuloma

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

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

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


tick-borne relapsing fever

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

An agnosia that is a loss of motion perception.


mullerian aplasia and hyperandrogenism

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.


neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

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.


chronic endophthalmitis

Chronic form of endophthalmitis.


muscular dystrophy, Hemizygous lethal type


unilateral aplasia of the mullerian ducts


Kienbock disease

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.


chronic relapsing inflammatory optic neuropathy

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.


acquired testicular failure

Testicular failure, the cause of which is not present at birth.


gangliosidosis

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.


chancroid

Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


congenital anomalies of kidney and urinary tract 1

Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


traumatic myositis ossificans

Myositis Ossificans resulting from trauma.


retinitis pigmentosa 75

Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.


Preaxial polydactyly of toes, unilateral


combined immunodeficiency due to STK4 deficiency

A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).


acute lichenoid pityriasis

A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.


pidermolysis bullosa simplex 5A, Ogna type

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.


cataract-glaucoma syndrome

Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


mixed phenotype acute leukemia

An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


distal spinal muscular atrophy type 3

Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


adult hypothyroidism

A hypothyroidism that occurs in an adult.


NEK9-related lethal skeletal dysplasia

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Brugada syndrome 4

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


polycystic kidney disease 6 with or without polycystic liver disease

Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


neuronopathy, distal hereditary motor, type 7A

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.


preaxial digit brachydactyly-webbed fingers


combined oxidative phosphorylation deficiency 51


factor V and factor VIII, combined deficiency of, type 1

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


acute undifferentiated leukemia

A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


progressive familial heart block type IB

Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


neonatal Marfan syndrome

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.


ringed hair disease

Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


paratesticular lipoma

A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


Weill-Marchesani syndrome 3

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


loricrin keratoderma

A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


nephronophthisis 4

Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


primary ciliary dyskinesia 32

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


Olmsted syndrome

A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


46,XX ovarian dysgenesis-short stature syndrome


prekallikrein deficiency

A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


Toriello-Lacassie-Droste syndrome

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.


acquired primary ovarian failure

An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


acute myeloid leukemia, t(6;11)(q27;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


chronic asthma

An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.


autosomal dominant primary microcephaly

Autosomal dominant form of microcephaly (disease).


brachial plexus neoplasm

A neoplasm (disease) that involves the brachial nerve plexus.


neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


aortic aneurysm, familial thoracic 10

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


nephrotic syndrome, type 3

Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


combined oxidative phosphorylation defect type 26

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


ring chromosome 9

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


neurodevelopmental disorder with severe motor impairment and absent language


primary adult heart tumor

Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


spongiotic dermatitis

A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


intellectual developmental disorder, autosomal dominant 69


microphthalmia, isolated, with coloboma 3

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


Pelger-Huet-like anomaly and episodic fever with abdominal pain

An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


myoclonic dystonia 11

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


renal tubulopathy-encephalopathy-liver failure syndrome

Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


benign eccrine neoplasm

A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


inborn disorder of gamma-aminobutyric acid metabolism

An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.


narcolepsy-cataplexy syndrome

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).


sensory ganglionopathy

A disease or disorder that involves the sensory ganglion.


disorder of optic chiasm

A disease that involves the optic chiasma.


congenital dyserythropoietic anemia type type 1B


amyotrophic lateral sclerosis with polyglucosan bodies


Charcot-Marie-Tooth disease, axonal, IIa 2II


Bruck syndrome 1

Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


combined immunodeficiency due to RELA haploinsufficiency


glucocorticoid deficiency 1

Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


retinitis pigmentosa 41

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.


oesophagostomiasis

Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


pemphigus erythematosus

Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.