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

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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.


IMPG2-related recessive retinopathy

Any retinopathy caused by bi-allelic variants in the IMPG2 gene.


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


cerebellar liponeurocytoma

A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)


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


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.


thyroid dyshormonogenesis 5

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


chemotherapy-induced oral mucositis

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


mandibuloacral dysplasia with type B lipodystrophy


peroxisome biogenesis disorder 1A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


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


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.


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.


intellectual developmental disorder, autosomal recessive 77


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.


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.


intellectual disability, autosomal dominant 58


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

An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


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.


blepharocheilodontic syndrome 2

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


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.


peroxisome biogenesis disorder

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


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.


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.


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.


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


autosomal dominant nocturnal frontal lobe epilepsy 4

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


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.


A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


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.


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


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.


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.


disorder of peroxisomal alpha oxidation

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


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.


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.)


familial temporal lobe epilepsy 7

A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


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)


seizures, benign familial infantile, 3

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


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).


polydactyly of a biphalangeal thumb, unilateral


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


retinitis pigmentosa 49

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.


autoimmune epilepsy

An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.


developmental and epileptic encephalopathy, 25

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


Siberian tick typhus

A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.


cerebral gigantism-jaw cysts syndrome

Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.


spinocerebellar ataxia type 18

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.


developmental and epileptic encephalopathy, 33

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


CACNA1F-related retinopathy

Any retinopathy caused by a variant in the CACNA1F gene.


spinocerebellar degeneration with slow eye movements


alopecia congenita keratosis palmoplantaris


17-alpha-hydroxylase/17,20-lyase deficiency, combined complete


frontonasal dysplasia

A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.


coenzyme Q10 deficiency, primary, 1

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


autosomal recessive osteopetrosis

An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.


adrenal rest tumor

A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.


vestibular neuronitis

Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)


congenital absence of both lower leg and foot, unilateral


acute stress disorder

An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.


Perrault syndrome 5

Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.


Caffey disease

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.


cutaneous diphtheria

A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.


ABeta amyloidosis, Iowa type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


epileptic encephalopathy, infantile or early childhood


cherubism

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


uterine corpus myxoid leiomyosarcoma

A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


Tel Hashomer camptodactyly syndrome

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.


Charcot-Marie-Tooth disease, axonal, type 2FF


auriculocondylar syndrome

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


ST2 diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.


uterine corpus neuroendocrine neoplasm

An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.


immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


Turner syndrome due to structural X chromosome anomalies


genital herpes simplex type 1 infectious disorder

Any herpes simplex type 1 infectious disease that involves the genitals.


cataract 15 multiple types

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


congenital muscular dystrophy due to integrin alpha-7 deficiency

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.


ichthyosis vulgaris

The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


Martinez Monasterio Pinheiro syndrome

A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


peroxisome biogenesis disorder due to PEX19 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


neuronopathy, distal hereditary motor, type 9


pure or complex hereditary spastic paraplegia


odontogenic cyst

A cyst in the jaw that arises from tissues of tooth development.


Charcot-Marie-Tooth disease axonal type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


arterial calcification, generalized, of infancy, 1

An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.


cerebroretinal microangiopathy with calcifications and cysts 3


nemaline myopathy 9

Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


glandular tularemia

A tularemia that involves the lymph node.


retinitis pigmentosa 7

A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.


autosomal recessive nonsyndromic hearing loss 77

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.


eye degenerative disorder

A neurodegenerative disease that involves the eye.


benign female reproductive system neoplasm

A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


X-linked intellectual disability, Porteous type


angiomyolipoma

A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.


clitoris cancer

A malignant neoplasm that affects the clitoris.


benign tumor of palpebral epidermis

A benign neoplasm that involves the skin of eyelid.


lymphatic malformation 3

Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.


neurally mediated hypotension

Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal


cataract 7

A cataract that has material basis in variation in the region 17q24.


autosomal recessive limb-girdle muscular dystrophy type 2P

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.


epidermolysis bullosa simplex 7, with nephropathy and deafness


autosomal recessive nonsyndromic hearing loss 74

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.


cataract 23

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


aortic aneurysm, familial thoracic 8

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


clitoris neoplasm

A neoplasm involving a clitoris.


Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.


Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


spinocerebellar ataxia type 26

Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


photokeratitis

Injury to the cornea secondary to ultraviolet light.


pervasive developmental disorder

A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


2p21 microdeletion syndrome

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.


recurrent hypersomnia

Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)


autosomal recessive spastic paraplegia type 78

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


hamartoma of skin appendage

A hamartoma (disease) that involves the cutaneous appendage.


multiple endocrine neoplasia

Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.


inherited rippling muscle disease

A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.


autoinflammatory syndrome, familial, Behcet-like


optic papillitis

Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)


primary erythermalgia

Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.


Schmid metaphyseal chondrodysplasia

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.


delayed membranous cranial ossification

Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.


epilepsy, familial adult myoclonic, 5

Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


autosomal dominant nonsyndromic hearing loss 27

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.


peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


uterine corpus epithelioid leiomyosarcoma

A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


neuropathy, hereditary sensory, atypical

A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.


cataract 8 multiple types

A cataract that has material basis in variation in the region 1pter-p36.13.


hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.


subacute leukemia

A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.


myopathy, congenital, with fiber-type disproportion, X-linked


Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.


46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


qualitative or quantitative defects of tropomyosin


Bardet-Biedl syndrome 8

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


familial multiple meningioma

Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.


properdin deficiency, X-linked

A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.


Blake pouch cyst

Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


SPAST-related motor disorder

Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


GYG1-related disorder of glycogen metabolism

Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.


autosomal dominant nonsyndromic hearing loss 12

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


reactive cutaneous fibrous lesion

A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.


autosomal recessive nonsyndromic hearing loss 8

An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.


symbrachydactyly of hand and foot, bilateral


isolated congenital digital clubbing

Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.


atypical endometrial hyperplasia

An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.


frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


uncombable hair syndrome

Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.


Ehlers-Danlos syndrome, spondylodysplastic type, 1


nystagmus 7, congenital, autosomal dominant


agammaglobulinemia 8b, autosomal recessive


Stüve-Wiedemann syndrome 1

A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.


classic pantothenate kinase-associated neurodegeneration


Rh deficiency syndrome

The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.


conventional osteosarcoma

A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


Bardet-Biedl syndrome 14

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.


immunodeficiency 14b, autosomal recessive


tibial neuropathy

Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)


potassium-aggravated myotonia

Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.


pudendal neuralgia

Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.


corpus uteri neoplasm

A neoplasm (disease) that involves the body of uterus.


spinocerebellar ataxia type 41

Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.


sparganosis

A condition resulting from infection with the second stage larvae of the parasite Spirometra.


A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.


spondylometaphyseal dysplasia, 'corner fracture' type

A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).


intellectual disability, Buenos-Aires type

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.


nystagmus 1, congenital, X-linked

Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.


Bifidobacteriales infectious disease

Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.


combined immunodeficiency due to LRBA deficiency


tooth agenesis, selective, 8

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.


GRM6-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.


mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


Bordetella parapertussis infectious disease

Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.


nephrogenic adenofibroma

A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.


cataract 6 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.


atypical carcinoid tumor

A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.


juvenile amyotrophic lateral sclerosis

Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.


microcephaly-complex motor and sensory axonal neuropathy syndrome

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.


myofibroblastoma

A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.


papular mucinosis of infancy

Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.


autosomal dominant nonsyndromic hearing loss 1

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.


central polydactyly of fingers, unilateral


chromosome 9 disorder

Chromosomal disorder in which chromosome 9 is affected.


primary progressive aphasia

Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


diabetic embryopathy

Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.


fibromyxoid tumor

A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.


megalencephalic leukoencephalopathy with subcortical cysts 2A


peripheral precocious puberty

Precocious puberty caused by sex hormones.


neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


autosomal recessive nonsyndromic hearing loss 25

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.


oculodentodigital dysplasia, autosomal recessive

Autosomal recessive form of oculodentodigital dysplasia.


congenital fibrosis of extraocular muscles type 1

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


small size posterior uveal melanoma

Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.


fibrosis of extraocular muscles, congenital, 5

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


microcephaly and chorioretinopathy 2

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.


immune hydrops fetalis

Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.


adult-onset proximal spinal muscular atrophy, autosomal dominant


Brugada syndrome 7

Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.


autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


uveal cancer

A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.


anovulation

The absence of ovulation.


hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.


epidermolysis bullosa, junctional 2B, severe


endometrial stromal tumor

Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).


substance-related disorder

A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).


dextro-looped transposition of the great arteries

Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.


autoimmune disease, multisystem, infantile-onset


hereditary multiple osteochondromas

A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.


specific phobia

An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.


maternal uniparental disomy of chromosome 6

Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.


benign laryngeal neoplasm

A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.


peroxisome biogenesis disorder 8B

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


syndromic craniosynostosis

A craniosynostosis that is part of a larger syndrome.


acute myeloid leukemia, t(3;12)(q23;p12.3)

Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)


intellectual disability, X-linked 99, syndromic, female-restricted

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


pigmented paravenous retinochoroidal atrophy

Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.