blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.


Histoplasma pericarditis

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An pericarditis (disease) caused by infection with Histoplasma.


congenital hereditary endothelial dystrophy type I

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


trigeminal nerve neoplasm

Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.


exposure, dental pulp

The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.


scalp defects-postaxial polydactyly syndrome

Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.


blue nevus

An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


progressive external ophthalmoplegia with mitochondrial DNA deletions


CD4+/CD56+ hematodermic neoplasm

An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.


fungal infection of the toenail

A fungal infectious disease that involves the toenail.


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.


Charcot-Marie-Tooth disease type 2Y

Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.


c-P angle neurinoma

A schwannoma occurring in the cerebellopontine angle.


myopathy, lactic acidosis, and sideroblastic anemia 3


inborn disorder of pyrimidine metabolism

ANPM


sporadic fetal brain disruption sequence

Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.


cone-rod dystrophy 13

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.


infertility due to extratesticular cause


spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


posterior urethra cancer

A malignant neoplasm that affects the portion of the urethra that is close to the bladder.


partial duplication of the short arm of chromosome 16

Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


epidermal disease

A skin disease that involves the epidermis.


intellectual disability, autosomal recessive 5

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


autosomal dominant cerebellar ataxia type IV


Frias syndrome

A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.


AIDS-related primary central nervous system lymphoma

A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.


COG5-congenital disorder of glycosylation

COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.


granulomatous prostatitis

An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.


sex cord-stromal benign neoplasm

A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


cataract 25

A cataract that has material basis in variation in the region 15q21-q22.


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


acute myeloid leukemia, t(1;22)

Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)


congenital disorder of glycosylation, type IAA


X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.


congenital retinal arteriovenous communication


extramedullary plasmacytoma

A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.


X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.


inherited focal segmental glomerulosclerosis

An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.


qualitative or quantitative defects of desmin


acanthocephaliasis

An disease or disorder caused by infection with Acanthocephala.


hemorrhagic fever

An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.


frontotemporal dementia and/or amyotrophic lateral sclerosis


hereditary sensory and autonomic neuropathy type 1B

Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


46,XY partial gonadal dysgenesis

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.


Smith-McCort dysplasia 2

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.


benign epithelial tumor of salivary glands


postaxial tetramelic oligodactyly

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.


partial duplication of the short arm of chromosome 4


small cell osteogenic sarcoma

An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.


duplication of urethra

Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.


hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.


intellectual disability, autosomal dominant 50


retinitis pigmentosa 62

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


peroxisome biogenesis disorder 5A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


combined immunodeficiency with skin granulomas


spinocerebellar ataxia, autosomal recessive 22

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.


nephrogenic adenoma of urinary bladder

A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


lymphangiomyoma

A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


Cowden syndrome 6

Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.


thrombophilia due to protein C deficiency, autosomal dominant


cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


partial duplication of the long arm of chromosome 1


Böök syndrome

Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.


autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.


congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.


intellectual disability, autosomal dominant 16

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.


infant botulism

A botulism that occurs between 28 days to one year of life..


autoimmune disease of ear, nose and throat

An autoimmune form of otorhinolaryngologic disease.


hereditary xanthinuria

Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


inherited reflex epilepsy

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


multiple personality disorder

A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.


carbon monoxide poisoning

A poisoning that is caused by exposure to carbon monoxide.


congenital myasthenic syndrome 1A

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.


Cowden syndrome 5

Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


cataract 9 multiple types

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


finger agnosia

An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers


congenital accessory mitral valve tissue

Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.


mitochondrial complex 1 deficiency, nuclear type 21


inherited thrombocytopenia

An instance of thrombocytopenia that is inherited.


Ritscher-Schinzel syndrome

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.


Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.


partial circumpapillary choroid dystrophy


hidrotic ectodermal dysplasia, Christianson-Fourie type

Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.


Bunyaviridae infectious disease

Virus diseases caused by the bunyaviridae.


chromosome 2p16.1-p15 deletion syndrome

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.


acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


cryptogenic late-onset epileptic spasms

Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.


totally drug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).


isolated trigonocephaly

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.


Barmah forest virus disease

A disease caused by infection with Barmah Forest virus.


isolated congenitally uncorrected transposition of the great arteries


oculoauricular syndrome

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


trigonitis

Inflammation of the trigone of the urinary bladder.


retinitis pigmentosa 38

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


Alzheimer disease 12

An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


capillary malformation-arteriovenous malformation 1


nemaline myopathy 3

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.


autosomal recessive nonsyndromic hearing loss 40

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


microcephaly 21, primary, autosomal recessive


vulva sarcoma

A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.


spondylocostal dysostosis-anal and genitourinary malformations syndrome

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


Charcot-Marie-Tooth disease axonal type 2P

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


autosomal recessive osteopetrosis 8

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


lateral sclerosis

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.


episodic ataxia type 3

Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


viral exanthem

A virus-induced exanthem


paranoid personality disorder

A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.


skull base chordoma

A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..


photosensitive trichothiodystrophy

A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway


startle epilepsy

Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


microcephaly and chorioretinopathy 1

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.


neurodevelopmental disorder with eye movement abnormalities and ataxia


glomerulopathy with fibronectin deposits 1


neuroaspergillosis

Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)


Rowell syndrome

A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.


intellectual disability, autosomal recessive 11


prediabetes syndrome

A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


chronic monocytic leukemia

Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.


Marburg acute multiple sclerosis

Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.


microcephaly 25, primary, autosomal recessive


gastrointestinal anthrax

An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.


peroxisome biogenesis disorder due to PEX13 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


carnitine palmitoyl transferase II deficiency, myopathic form

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.


partial trisomy/tetrasomy of chromosome 18

A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.


PLA2G6-associated neurodegeneration

Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


citrullinemia type I

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


malignant atrophic papulosis

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


CEDNIK syndrome

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.


autosomal dominant medullary cystic kidney disease with or without hyperuricemia

A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).


immunodeficiency 49

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


myopathy of extraocular muscle

A myopathy that involves the extra-ocular muscle.


intellectual disability, X-linked 90

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.


achondrogenesis type II

Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


sacral nerve plexus disorder

A disease that involves the sacral nerve plexus.


digitalis poisoning

Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.


heavy chain disease

Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.


autosomal dominant Ehlers-Danlos syndrome, vascular type

The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


brain dopamine-serotonin vesicular transport disease

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.


spinocerebellar ataxia type 42

An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


dehydrated hereditary stomatocytosis

Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


Al-Gazali syndrome

An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


primary cerebellar degeneration

A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.


congenital stationary night blindness autosomal dominant 1

Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.


superior vena cava angiosarcoma

A malignant vascular neoplasm arising from the superior vena cava.


developmental and epileptic encephalopathy, 31

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


chronic polyneuropathy

Polyneuropathy that is persistent or long-standing in nature.


ATP1A3-associated neurological disorder

Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.


hypogonadotropic hypogonadism 16 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.


Niemann-Pick disease type A

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


autosomal dominant nonsyndromic hearing loss 33

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


Balint syndrome

Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.


Meckel syndrome, type 4

Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.


syndromic X-linked intellectual disability 17

Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.


posterior amorphous corneal dystrophy

Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


osteochondritis of tarsal/metatarsal bone

A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.


Charcot-Marie-Tooth disease dominant intermediate B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


spermatogenic failure 17

Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.


ossifying fibromyxoid tumor

A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


neurodevelopmental disorder with midbrain and hindbrain malformations


ulceroglandular tularemia

A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


mitochondrial complex 4 deficiency, nuclear type 21


Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.


Kikuchi-Fujimoto disease

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


congenital myasthenic syndrome 9

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.


retinitis pigmentosa 59

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


uvulitis

Inflammation of the uvula.


medium/large size posterior uveal melanoma

Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


mitochondrial complex 1 deficiency, nuclear type 2


hereditary spastic paraplegia 26

A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.


cerebral cavernous malformation 2

Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


sarcoma of cervix uteri

A sarcoma involving a uterine cervix.


antisynthetase syndrome

Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


chronic inflammatory demyelinating polyradiculoneuropathy

A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.


enhanced S-cone syndrome

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.


cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


adult brain stem neoplasm

A brainstem neoplasm that occurs in an adult.


human T-lymphotropic virus 1 infectious disease

A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.


dystrophic epidermolysis bullosa pruriginosa

Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


smoldering plasma cell myeloma

A plasma cell myeloma lacking clinical manifestations and organ impairment.


endometrial stromal nodule

A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.


intellectual disability, autosomal dominant 46


rheumatic fever

A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.


Imerslund-Grasbeck syndrome type 2

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


chylomicron retention disease

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.


chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.


mature cataract

A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.


aplasia cutis congenita dominant

Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


autosomal recessive congenital ichthyosis

Autosomal recessive form of inherited ichthyosis.


testicular pure germ cell tumor

A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.


skeletal ligament disorder

A disease or disorder that involves the skeletal ligament.


chronic congestive splenomegaly

Chronic form of congestive splenomegaly.


hyperostosis corticalis generalisata

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


developmental and epileptic encephalopathy, 32

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


congenital generalized hypercontractile muscle stiffness syndrome


spondyloepimetaphyseal dysplasia, Handigodu type

A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


renal hypertension

Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.


female reproductive organ cancer

A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.


microcephaly 3, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


disorder of magnesium transport

An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


chondrodysplasia punctata, Toriello type

Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.


integumentary system benign neoplasm

A benign neoplasm that involves the integumental system.


hereditary motor and sensory neuropathy with acrodystrophy

A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.


muscular dystrophy, limb-girdle, autosomal dominant

Autosomal dominant form of limb-girdle muscular dystrophy.


ophthalmia neonatorum

Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.


oromandibular-limb hypogenesis syndrome

Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).


craniosynostosis, Herrmann-Opitz type

Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.


larynx liposarcoma

A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.


neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


auditory system disorder

A disease involving the auditory system.


palmoplantar keratoderma, punctate type ib


nabothian cyst

A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.


benign choroid plexus neoplasm

A benign neoplasm involving the choroid plexus.


prostatic urethral cancer

A male urethral cancer that involves the prostatic urethra.


An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


posterolateral myocardial infarction

An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.


punctate palmoplantar keratoderma type III

Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later


arthrogryposis, renal dysfunction, and cholestasis 1

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.


bulbospinal polio

A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


primary viral infectious disease

The initial viral infectious disase that causes illness.


distal trisomy 16q

Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


Nager acrofacial dysostosis

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


central centrifugal cicatricial alopecia


torovirus infectious disease

Infections with viruses of the genus torovirus, family coronaviridae.


lentivirus infection

Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


renal hypoplasia, unilateral

Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


topographical agnosia

An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


intellectual disability, X-linked 99

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


Aicardi-Goutieres syndrome 4

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.


cyclosporiasis

A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.


congenital complete agenesis of pericardium

Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.


exostosis, Dupuytren subungual

A benign lesion that affects the distal phalanx, most often the great toe.  Grossly it consists of a cartilage cap and a bony stalk.  Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone.  Pain and swelling are present.  Simple resection is usually curative.


autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.


palmoplantar keratoderma, Nagashima type

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.


Lisch epithelial corneal dystrophy

Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.


autosomal recessive nonsyndromic hearing loss 70

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


cellular phase chronic idiopathic myelofibrosis

Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.


C1q nephropathy

C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


neutrophil actin dysfunction

Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


cancer of long bone of upper limb

A cancer that involves the upper limb long bone.


Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.


catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


hantavirus hemorrhagic fever with renal syndrome

A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.


congenital neuronal ceroid lipofuscinosis

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


malignant tenosynovial giant cell tumor

An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.


GTP cyclohydrolase I deficiency with hyperphenylalaninemia

An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


acute myeloid leukemia, t(16;16)(p13.1;q22)

Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


intellectual disability, X-linked, syndromic, Houge type


autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


nephronophthisis-like nephropathy 1

Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.


paroxysmal Hemicrania

Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.


autosomal recessive nonsyndromic hearing loss 18A

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


autosomal recessive nonsyndromic hearing loss 89

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


Gaucher disease due to saposin C deficiency

Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


congenital stationary night blindness autosomal dominant 2

Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.


neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


undifferentiated pleomorphic sarcoma

An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


retinitis pigmentosa 6

A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.


dystrophies primarily involving the retinal pigment epithelium


spleen neoplasm

A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


Upington disease

Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.


paroxysmal nocturnal hemoglobinuria 1

Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.


Langer mesomelic dysplasia

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.


XYLT1-congenital disorder of glycosylation


Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.


autoimmune optic neuritis

An autoimmune form of optic neuritis.


microcephalic osteodysplastic primordial dwarfism type II

A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.


aniridia-cerebellar ataxia-intellectual disability syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.


cardiovascular organ benign neoplasm

A benign neoplasm that involves the cardiovascular system.


combined immunodeficiency due to moesin deficiency


aggressive systemic mastocytosis

Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.


Stern-Lubinsky-Durrie syndrome

Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.


heterotaxy, visceral, 1, X-linked

X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.


spastic paraplegia 70, autosomal recessive


hereditary glaucoma

Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.


osteogenesis imperfecta type 1

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


aleukemic leukemia cutis

Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.


agammaglobulinemia 5, autosomal dominant

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.


skeletal dysplasia-intellectual disability syndrome

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.


internal hemorrhoid

A hemorrhoid which originates above the dentate line.


chondrogenic neoplasm

A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


tumoral calcinosis, hyperphosphatemic, familial, 1


reflex epilepsy

Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).


intraorbital meningioma

A meningioma that affects the intraorbital structures.


inflammatory bowel disease-recurrent sinopulmonary infections syndrome


intellectual developmental disorder, autosomal dominant 66


idiopathic recurrent stupor

Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


infection caused by Bifidobacterium

A disease caused by infection with Bifidobacterium.


paroxysmal cold hemoglobinuria

Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.


hypothyroidism, congenital, nongoitrous, 5

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.


teratocarcinoma

A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.


hereditary spastic paraplegia 24

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.


3q27.3 microdeletion syndrome

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.


chromosome 1p36 deletion syndrome, proximal


anosognosia

An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.


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


cardiomyopathy hypogonadism metabolic anomalies


craniosynostosis 6

Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.


transient neonatal myasthenia gravis

Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.


muscle tissue disorder

A disease involving the muscle tissue.


autosomal dominant mitochondrial myopathy with exercise intolerance


orofacial cleft 15

Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.


autosomal dominant nonsyndromic hearing loss 22

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


TH-deficient progressive infantile encephalopathy

A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.


microphthalmia, isolated, with coloboma 9

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.


neuropathy, hereditary sensory and autonomic, type 1C

A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.


aquagenic palmoplantar keratoderma

Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


scrub typhus

Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.


autosomal recessive hypophosphatemic rickets

Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.


autosomal recessive congenital ichthyosis 10

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.


complex cortical dysplasia with other brain malformations 3

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.


xeroderma pigmentosum group E

An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.


infection-related hemolytic uremic syndrome


congenital anomaly of the mitral subvalvular apparatus


ABCA4-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.


intellectual disability, X-linked 30

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.


mature teratoma

A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


subendocardial myocardial infarction

An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.


Bothnia retinal dystrophy

A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.


pontocerebellar hypoplasia type 2B

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.


intracranial berry aneurysm

An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


short stature due to GHSR deficiency

Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.


ventricular fibrillation, paroxysmal familial, 2

Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.


short-rib thoracic dysplasia 10 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.


Mayer-Rokitansky-Küster-Hauser syndrome type 2

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.


lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


carbon monoxide-induced delayed encephalopathy

Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event


T-cell acute lymphoblastic leukemia

Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)


adactylia, unilateral

A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.


mucopolysaccharidosis type 6, rapidly progressing


laryngocele

A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.


An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.


linear focal dermal elastosis

Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.


disorder of metabolite absorption and transport


advanced sleep phase syndrome 1

Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.


enuresis, nocturnal, 1

Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.


congenital myasthenic syndrome 7

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.


A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


combined oxidative phosphorylation deficiency 52


hirudiniasis

An disease or disorder caused by infection with Hirudinea.


mixed phenotype acute leukemia,T/myeloid

An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


post-thrombotic syndrome

A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.


neurodevelopmental disorder and language delay with or without structural brain abnormalities


fish eye disease

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.


familial benign copper deficiency

Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.


congenital dyserythropoietic anemia type 3

Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.


recessive aplasia cutis congenita of limbs

Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.


Buruli ulcer disease

A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.


CIDEC-related familial partial lipodystrophy


defect in conserved oligomeric Golgi complex


vaginal fibroepithelial polyp

A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


intellectual disability, autosomal recessive 10


Leber congenital amaurosis 15

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


Fusobacteriaceae infectious disease

Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.


bacterial hemorrhagic fever

A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


hyperplastic polyp

A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).


oculotrichodysplasia

Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.


juvenile myasthenia gravis

Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.


epithelioid inflammatory myofibroblastic sarcoma


hereditary optic atrophy

A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.


congenital enterovirus infection

Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.


peroxisomal disease

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


neonatal glycine encephalopathy

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


inborn disorder of energy metabolism

An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


adrenomyodystrophy

Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.


partial duplication of the short arm of chromosome 3

Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.


chromosome 12 disorder

Chromosomal disorder in which chromosome 12 is affected.


absence of innominate vein

Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


acute bilirubin encephalopathy

A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


leukemia, myeloid, accelerated-phase

The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.


A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.


CELSR1-related late-onset primary lymphedema

A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


chromosome 6q24-q25 deletion syndrome

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


Coffin-Siris syndrome 7

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.


intellectual disability, autosomal recessive 51

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


inborn disorder of amino acid and other organic acid metabolism


spongiform encephalopathy with neuropsychiatric features


COG6-ongenital disorder of glycosylation


core binding factor acute myeloid leukemia

An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.


autism spectrum disorder due to AUTS2 deficiency

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


leukoplakia of vagina

Leukoplakia of the vagina.


dacryoadenitis

Inflammation and enlargement of the lacrimal gland.


elastofibroma dorsi

A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.


eyelid melanoma

A melanoma that arises from the upper or lower eyelid.


juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.


congenital pulmonary airway malformation type 0


neutral lipid storage disease

Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.


synovium disorder

A disease or disorder that involves the layer of synovial tissue.


dermis tumor

A benign, intermediate, or malignant neoplasm that arises from the dermis.


dyskeratosis congenita, autosomal dominant 3

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


occipital lobe neoplasm

A neoplasm involving a occipital lobe.


acute retinal necrosis syndrome

Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.


central nervous system hematopoietic neoplasm

A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.


frontometaphyseal dysplasia 2

Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.


vulvar syringoma

A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.


complete atrioventricular canal-left heart obstruction syndrome


immunodeficiency 78 with autoimmunity and developmental delay


cervical Wilms tumor

An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


sleep disorder

A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.


secondary syringomyelia

Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.


benign essential hypertension

A condition of mild to moderate high blood pressure that has no identifiable cause.


fascioliasis

A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.


short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


mitochondrial complex 1 deficiency, nuclear type 29


inborn disorder of amino acid metabolism

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


myxoid leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.


mitochondrial complex V (ATP synthase) deficiency nuclear type 2

A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.


combined oxidative phosphorylation deficiency 57


cerebellopontine angle tumor

A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.


uterine ligament cancer

A primary or metastatic malignant neoplasm that affects the uterine ligament.


bejel

A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.


lissencephaly with cerebellar hypoplasia type F

Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.


sporotrichosis

The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.


familial tumoral calcinosis

Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.


Bartter disease type 5

Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.