progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


xeroderma pigmentosum group C

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An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


microcephaly with intellectual disability

Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.


symptomatic heart failure

A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


pili torti-onychodysplasia syndrome

Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.


trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.


benign neoplasm of scrotum

A benign neoplasm that involves the scrotum.


Joubert syndrome 21

Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


autosomal dominant spastic paraplegia type 80


amyotrophic lateral sclerosis type 19

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


oromandibular dystonia

Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


inflammatory poikiloderma with hair abnormalities and acral keratoses


episodic ataxia type 7

Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


iatrogenic or traumatic pituitary deficiency


hypotrichosis 12

Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


combined oxidative phosphorylation defect type 27

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


nemaline myopathy 5

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.


orofaciodigital syndrome IV

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.


trigonocephaly-broad thumbs syndrome

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


nanophthalmia

Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


inborn errors of metabolism

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


Cowden syndrome 3

Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.


tyrosine hydroxylase deficiency

Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


monosomy 9q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.


dentinogenesis imperfecta type 3

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).


primary ciliary dyskinesia 9

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.


erythema multiforme major

A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.


nutritional deficiency disease, non-human animal


spinocerebellar ataxia type 25

Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


la Crosse encephalitis

La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.


intellectual disability, autosomal recessive 2

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


Whitewater Arroyo hemorrhagic fever

A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


distal monosomy 9p

Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.


short-rib thoracic dysplasia 14 with polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


cone-rod dystrophy 12

Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.


Joubert syndrome 2

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


inborn disorder of histidine metabolism

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


cataract 36

Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


Gordon syndrome

An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


histiocytic and dendritic cell neoplasm

Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)


short-rib thoracic dysplasia 7/20 with polydactyly, digenic


AIDS phobia

An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


LIPE-related familial partial lipodystrophy


congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


acute myeloid leukemia, t(1;11)(q21;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)


thelaziasis

A disease caused by infection with Thelazia.


2q24 microdeletion syndrome

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


femoral cancer

A cancer involving a femur.


hereditary spastic paraplegia 47

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


atypical choroid plexus papilloma

A choroid plexus papilloma characterized by increased mitotic activity.


pelvis syndrome

PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.


chromosome 3q13.31 deletion syndrome

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


MELAS syndrome caused by mutation in MTTC

Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.


neuropathy, hereditary motor and sensory, type 6A

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.


benign mesenchymoma

A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


hypotonia with lactic acidemia and hyperammonemia

This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


iris neoplasm

A neoplasm (disease) that involves the iris.


pseudohypoaldosteronism, type IB3, autosomal recessive


cardiovascular syphilis

A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.


Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.


mitochondrial complex I deficiency, nuclear type


oculoosteocutaneous syndrome

A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


myotonic cataract

A cataract occurring as a sequela of myotonic dystrophy.


aphthous stomatitis

A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.


autosomal recessive spinocerebellar ataxia 17

Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Alexander disease type I

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


Moyamoya disease 2

Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


childhood germ cell tumor

A germ cell tumor that occurs during childhood.


partial monosomy of the short arm of chromosome 20


Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.


cervical adenosarcoma

A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


autosomal recessive inherited pseudoxanthoma elasticum

An autosomal recessive form of PXE.


Yersinia infectious disease

Infections with bacteria of the genus yersinia.


coagulation protein disease

Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


familial cervical artery dissection

An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.


sympathetic nervous system disorder

A disease or disorder that involves the sympathetic nervous system.


combined oxidative phosphorylation deficiency 29

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


acquired hypertrichosis lanuginosa

Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.


autosomal recessive proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


intersphincteric abscess

An abscess contained between the internal and external anal sphincters.


osteosclerosis-ichthyosis-premature ovarian failure syndrome

This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


Ullrich congenital muscular dystrophy 2

Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


cataract 28

A cataract that has material basis in variation in the region 6p12-q12.


GRID2-related autosomal dominant spinocerebellar ataxia


mitochondrial complex 1 deficiency, nuclear type 19


myotonia congenita, autosomal recessive

Autosomal recessive form of myotonia congenita.


neurodegeneration with brain iron accumulation 6

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


chronic bilirubin encephalopathy

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


secondary polyarteritis nodosa

Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).


retinitis pigmentosa 29

A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.


epididymis cancer

A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.


hereditary acrokeratotic poikiloderma, Weary type


uterine corpus cancer

A malignant neoplasm involving the body of uterus.


PNPLA6-related spastic paraplegia with or without ataxia

An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.


cardiac anomalies - developmental delay - facial dysmorphism syndrome


cytokine receptor deficiency

A disease that has its basis in the disruption of cytokine receptor activity.


apperceptive agnosia

An agnosia that is a loss of the ability to distinguish visual shapes.


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


camptodactyly syndrome, Guadalajara type 3

Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.


type I complement component 8 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


eyelid cancer

A cancer that involves the eyelid.


ciliary dyskinesia with transposition of ciliary microtubules


spinocerebellar ataxia, autosomal recessive 24

Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.


chromosome 20 disorder

Chromosomal disorder in which chromosome 20 is affected.


human betaherpesvirus 5 infectious disease

A disease caused by infection with Human betaherpesvirus 5.


diastematomyelia

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


autosomal dominant nonsyndromic hearing loss 21

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


acute leukemia of ambiguous lineage

An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)


Aland island eye disease

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


cholesterol-ester transfer protein deficiency


idiopathic central precocious puberty

Central precocious puberty for which no underlying cause can be identified.


leukoplakia of penis

A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.


intellectual disability, autosomal dominant 14

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


endocervical type cervical adenomyoma

An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.


chromosome 5Q14.3 deletion syndrome, distal


eccrine sweat gland hamartoma

A hamartoma characterized by localized eccrine sweat gland malformation.


muscular dystrophy, congenital, with rapid progression


RPE65-related recessive retinopathy

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.


ovarian dysgenesis 2

Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


atypical hemolytic-uremic syndrome with C3 anomaly


tracheal lymphoma

A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.


46,XX disorder of sex development induced by endogenous maternal-derived androgen


Wiskott-Aldrich syndrome, autosomal dominant form


laryngeal granuloma

A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.


hyper-IgE recurrent infection syndrome 5, autosomal recessive


glycogen storage disease I

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


intravenous leiomyomatosis

A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.


non-specific autoimmune brainstem encephalitis without characteristic antibodies


mitochondrial complex III deficiency nuclear type 3

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.


testicular trophoblastic tumor

A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.


well differentiated papillary mesothelioma

A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


acute myeloid leukemia, KIT exon 17 mutation

Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)


Plummer disease

Nodular enlargement of the thyroid gland associated with hyperthyroidism.


malignant tumor of neck

A cancer that involves the neck.


urogenital tuberculosis

A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.


immune epilepsy

Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


papillary conjunctivitis

Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.


EBV-positive T-cell lymphoproliferative disorder of childhood

An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.


junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.


Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.


autosomal recessive omodysplasia

Autosomal recessive form of omodysplasia.


benign angiitis of the central nervous system

A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.


intellectual disability-myopathy-short stature-endocrine defect syndrome

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.


magnesium deficiency

A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)


pachyonychia congenita 2

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


synovial chondromatosis

Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


opportunistic mycosis

A mycosis that arises from infection in an immunologically compromised host.


cataract 21 multiple types

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


anemia, congenital dyserythropoietic, type 1a


Cowden syndrome 4

Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.


Usher syndrome type 3B

Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.


infectious encephalitis

An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


auditory neuropathy, autosomal dominant 2


autosomal recessive Alport syndrome

Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


spermatogenic failure 3

Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


hereditary cryohydrocytosis with reduced stomatin


cerebellar-facial-dental syndrome

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


multiple congenital anomalies/dysmorphic syndrome without intellectual disability


hyperdibasic aminoaciduria type 1

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


hypertrichosis lanuginosa congenita

Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.


epidermolysis bullosa simplex superficialis

Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


peripheral nervous system cancer

Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location


hereditary spastic paraplegia 50

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.


renal dysplasia

Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.


T-cell immunodeficiency, congenital alopecia, and nail dystrophy

A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


urachus cancer

A malignant neoplasm involving the urachus.


ectodermal dysplasia-cutaneous syndactyly syndrome


myoclonus-dystonia syndrome

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.


distal hereditary motor neuropathy type 2


pediatric Castleman disease

Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


ATP6AP2-related disorder

Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.


cerebral palsy, spastic quadriplegic, 3

Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.


young adult-onset distal hereditary motor neuropathy

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


cough variant asthma

An asthma that is characterized by chronic nonproductive cough without shortness of breath.


disorder of vitamin and non-protein cofactor absorption and transport


chronic childhood arthritis

An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


heart-hand syndrome, Slovenian type

A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


asphyxiating thoracic dystrophy 5

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


partial deletion of the short arm of chromosome 11


oocyte/zygote/embryo maturation arrest 17


acute pandysautonomia

Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.


venous thromboembolism

Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


combined oxidative phosphorylation defect type 20

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


hereditary sclerosing poikiloderma, Weary type


immunodeficiency 74, COVID-19-related, X-linked


epithelioid cell uveal melanoma

A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.


drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.


retina neoplasm

A neoplasm (disease) that involves the retina.


glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


microcornea-glaucoma-absent frontal sinuses syndrome

Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.


pontocerebellar hypoplasia type 1B

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


infancy electroclinical syndrome

An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


partial deletion of the long arm of chromosome 19


Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.


craniodiaphyseal dysplasia, autosomal dominant


mitochondrial DNA depletion syndrome 11

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


primary mast cell activation syndrome

Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.


autosomal recessive limb-girdle muscular dystrophy type 2Y

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.


neurodevelopmental disorder with microcephaly, short stature, and speech delay


partial deletion of the long arm of chromosome 13

A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.


Astley-Kendall dysplasia

Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.


Okihiro syndrome due to 20q13 microdeletion


Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.


cystic leukoencephalopathy without megalencephaly

Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.


spinocerebellar ataxia, autosomal recessive 30


chromosome 3 disorder

Chromosomal disorder in which chromosome 3 is affected.


mesenchymal cell neoplasm

A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.


hypomyelinating leukodystrophy 3

Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.


superficial siderosis

Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.


atrial septal defect 8

Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.


partial trisomy of the long arm of chromosome 16


diabetes insipidus, nephrogenic, X-linked


anterior cerebral artery infarction

Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


parkinsonism with dementia of Guadeloupe

Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


benign neoplasm of gum

A benign neoplasm that involves the gingiva.


Stromme syndrome

An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).


multi-infarct dementia

A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


pityriasis rubra pilaris

A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).


cheilitis glandularis

Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.


cardiovascular neoplasm

A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.


Mazabraud syndrome

Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.


stromal sarcoma

A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.


Hunter-McAlpine craniosynostosis

Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).


syndrome caused by partial chromosomal deletion

A chromosomal disorder consisting of the absence of a part of a chromosome.


onychomatricoma

A neoplasm involving a UBERON:0002283.


external hirudiniasis

The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.


overlap myositis

Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.


amyopathic dermatomyositis

A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.


indolent systemic mastocytosis

Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.


bulbomembranous urethral cancer

A malignant neoplasm that affects the bulbomembranous part of the urethra.


paraneoplastic pemphigus

Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.


nodular sclerosis classical Hodgkin lymphoma

A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)


X-linked Alport syndrome

X-linked form of Alport syndrome.


Bacteroides infectious disease

Infections with bacteria of the genus bacteroides.


O'Sullivan-McLeod syndrome

O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.


antisocial personality disorder

A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)


atypical hemolytic uremic syndrome with complement gene abnormality


autosomal recessive spinocerebellar ataxia 7

Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.


hematopoietic and lymphoid cell neoplasm

A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


keratosis palmoplantaris striata 3

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.


dyskeratosis congenita, autosomal recessive 8


mouth mucosa disorder

A disease or disorder that involves the mouth mucosa.


meningovascular neurosyphilis

A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


nephrotic syndrome, type 2

Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.


maternal uniparental disomy of chromosome 4

Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


choroid plexus neoplasm

An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.


familial primary pulmonary hypoplasia

Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.


retinitis pigmentosa 47

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


Charcot-Marie-Tooth disease type 1C

Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.


acute necrotizing encephalopathy of childhood

Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.


petrositis

Inflammation of petrous bone.


Leber congenital amaurosis with early-onset deafness


avascular necrosis of genetic origin

An instance of avascular necrosis that is caused by a modification of the individual's genome.


Alphavirus infectious disease

Virus diseases caused by members of the alphavirus genus of the family togaviridae.


foodborne botulism

Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.


myeloid neoplasm associated with PDGFRB rearrangement

A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.


skeletal dysplasia-epilepsy-short stature syndrome

Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.


hyperglobulinemic purpura

Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.


optic atrophy 2

A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.


Warburg micro syndrome

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.


chemotherapy-induced oral mucositis

Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.


mandibuloacral dysplasia with type B lipodystrophy


orbital leiomyoma

Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.


muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


familial hyperreninemic hypoaldosteronism type 1

An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting.


neuronal ceroid lipofuscinosis 7

Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


intellectual developmental disorder, autosomal recessive 77


streptobacillary rat-bite fever

Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.


calcifying fibrous tumor

A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.


neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


localized osteosarcoma

A non-disseminated osteosarcoma.


low grade fibromyxoid sarcoma

A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.


hereditary spastic paraplegia 25

Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.


congenital partial agenesis of pericardium

Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.


inherited mitral valve disease

An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.


autosomal recessive nonsyndromic hearing loss 55

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.


necrobiotic xanthogranuloma

A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.


familial schizencephaly

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


intellectual disability, autosomal dominant 58


autosomal recessive congenital ichthyosis 2

An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.


tuberculoid leprosy

A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.


pineal body neoplasm

A neoplasm (disease) that involves the pineal body.


narcissistic personality disorder

A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.


familial hemiplegic migraine

A migraine disorder characterized by individual and family history of aura that includes motor weakness.


ring chromosome 5

Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).


autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures


intellectual disability, autosomal recessive 33


22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


pseudohypoparathyroidism type 1C

A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


oculoauriculovertebral spectrum with radial defects

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.


trisomy 4p

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.


pentalogy of Cantrell

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.


optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


Brugada syndrome 8

Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


uncombable hair syndrome 2

Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.


leptomyelolipoma

Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.


Tay-Sachs disease

GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


primary ciliary dyskinesia 34

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


cone-rod dystrophy 9

Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.


pontocerebellar hypoplasia

Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.


myopia 21, autosomal dominant

Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.


favism

A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.


acquired von willebrand syndrome

Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.


combined oxidative phosphorylation deficiency 48


vestibular gland benign neoplasm

A benign neoplasm that involves the vestibular gland.


chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


tall stature-scoliosis-macrodactyly of the great toes syndrome

Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.


benign neoplasm of salivary gland

A benign neoplasm that involves the saliva-secreting gland.


central cloudy dystrophy of François

Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.


myopathy, reducing body, X-linked, childhood-onset


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.


xeroderma pigmentosum-Cockayne syndrome complex

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).


epidermolysis bullosa dystrophica

A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.


tuberculous ascites

A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.


idiopathic posterior uveitis

Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


benign neoplasm of trachea

A benign neoplasm that involves the trachea.


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


lice infestation

A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.


syndromic X-linked intellectual disability 94

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.


paternal uniparental disomy of chromosome 14


rumination disorder

Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.


infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


osteoblastic osteosarcoma

A conventional osteosarcoma characterized by the predominance of osteoid matrix.


chronic meningitis

Chronic form of meningitis (disease).


intellectual disability, X-linked 1

An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.


germ cell tumor

A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


acrofacial dysostosis Rodriguez type

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.


hypertrichosis-acromegaloid facial appearance syndrome

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.


ciliary dyskinesia, primary, 36, X-linked

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.


Moyamoya disease

Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.


A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).


hereditary motor and sensory neuropathy type 6


isolated focal cortical dysplasia type IIb


Meckel syndrome, type 3

Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


childhood testicular germ cell tumor

A germ cell tumor that arises from the testis during childhood.


neurodevelopmental disorder with dystonia and seizures


SCN4A-related myopathy, autosomal recessive

Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.


renal tuberculosis

Infection of the kidney due to mycobacteria.


holoprosencephaly 6

A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.


X-linked complex neurodevelopmental disorder

A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.


circadian rhythm sleep disorder, shift work type

A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.


olecranon bursitis

A bursitis that involves the olecranon.


Huntington disease and related disorders

A grouping for Huntington disease and similar diseases.


monosomy 7 myelodysplasia and leukemia syndrome 2


epidermolysis bullosa, junctional 6, with pyloric atresia


autoinflammatory disease, multisystem, with immune dysregulation, X-linked


obstetric disorder

Disorder associated with pregnancy, childbirth, and puerperium.


dopa-responsive dystonia due to sepiapterin reductase deficiency

Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.


mitochondrial myopathy with a defect in mitochondrial-protein transport


intellectual disability-sparse hair-brachydactyly syndrome

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.


periprosthetic joint infection

A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.


platelet-type bleeding disorder 16

An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.


mitochondrial complex II deficiency, nuclear type


myomatous neoplasm

A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.


epispadias

Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.


glycogen storage disease due to glycogen branching enzyme deficiency

Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


peeling skin syndrome

Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.


mesomelic dysplasia, Savarirayan type

Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.


hypogonadotropic hypogonadism 21 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


myelodysplastic syndrome with excess blasts-1

A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Picornaviridae infectious disease

Virus diseases caused by the picornaviridae.


cold-induced sweating syndrome - hyperthermia spectrum


Fanconi anemia complementation group U

Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.


ciliary body mixed cell melanoma

A mixed cell uveal melanoma that involves the ciliary body.


fetal akinesia deformation sequence 3

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.


erythrocytosis, familial, 3

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


lupus erythematosus

An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.


phencyclidine abuse

The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.


retinitis pigmentosa 9

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.


Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.


segmental dystonia

A dystonia that affects two or more adjacent parts of the body.


pythiosis

A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.


hypophosphatemic rickets, autosomal recessive, 2

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.


Leber plus disease

Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


SHORT syndrome

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.


cataract 27

A cataract that has material basis in mutation in the region 2p12.


neoplasm of minor salivary gland

A neoplasm (disease) that involves the minor salivary gland.


herpes simplex type 1 infectious disease

A disease caused by infection with herpes simplex type 1.


pituitary apoplexy

A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.


sporadic infantile bilateral striatal necrosis

Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.


tooth agenesis, selective, X-linked, 1

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


toxicodendron dermatitis

An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)


vagus nerve neoplasm

A neoplasm involving a vagus nerve.


autosomal recessive osteopetrosis 1

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.


hypomyelinating leukodystrophy 4

Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.


intellectual disability, autosomal dominant 51


age-related hearing impairment

Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.


balanitis xerotica obliterans

A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.


X-linked intellectual disability-hypotonia-movement disorder syndrome


avascular necrosis of femoral head, primary, 2


pediatric lymphoma

A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.


alopecia-intellectual disability syndrome 3


partial deletion of the short arm of chromosome 1

Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


benign smooth muscle neoplasm

A benign mesenchymal neoplasm arising from smooth muscle tissue.


lethal congenital contracture syndrome 1

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.


Pseudomonas aeruginosa CF5 infection

A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.


laminopathy type Decaudain-Vigouroux

Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.


Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.


Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.


neuropathy, hereditary sensory, type 1D

A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.


acute myeloid leukemia, KIT exon 8 mutation

Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)


An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.


neuroretinitis

Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.


isolated congenital anosmia

This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.


spastic paraplegia 81, autosomal recessive


ichthyosiform erythroderma, corneal involvement, and hearing loss


proteasome-associated autoinflammatory syndrome 2


glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


acute necrotizing encephalitis

A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)


SIN3A-related intellectual disability syndrome


unbalanced Robertsonian translocation Down syndrome

Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.


spermatogenic failure 15

Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


benign sertoli cell tumor

A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.


vulva fibroepithelial polyp

A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.


candidiasis, familial, 8

Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


microphthalmia, Lenz type

A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.


astereognosia

An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.


microcephaly sparse hair intellectual disability seizures


atrophic rhinitis

A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


microcephaly 16, primary, autosomal recessive


myofibrillar myopathy 7

Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.


LADD syndrome

A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.


megacystis-megaureter syndrome

Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.


skeletal muscle cancer

A malignant neoplasm arising from skeletal muscle.


trisomy 20p

Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.


Carney complex - trismus - pseudocamptodactyly syndrome

Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


colchicine poisoning

A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.


infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome