thoracic disk degenerative disorder

description: Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.


trigeminal autonomic cephalalgia

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

description: A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.


urethra leiomyoma

description: A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


granulomatous endometritis

description: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.


cytophagic histiocytic panniculitis

description: Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


tetrasomy 5p

description: Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).


GUCY2D-related recessive retinopathy

description: A retinopathy caused by biallelic variants in the GUCY2D gene.


name: hypouricemia, familial renal, due to tubular hypersecretion


name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acquired motor neuron disease

description: An instance of motor neuron disease that is acquired during the lifetime of the individual.


name: acromesomelic dysplasia, Campailla Martinelli type


name: sucrosuria, hiatus hernia and intellectual disability


agenesis of the superior vena cava

description: Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


name: azoospermia, obstructive, with nephrolithiasis


chronic rheumatic pericarditis

description: Chronic form of rheumatic pericarditis.


nasal cavity inverting papilloma

description: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.


name: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita


name: Pelizaeus-Merzbacher disease, transitional form

description: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.


canine rhabdomyosarcoma

description: A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.


Lowry-Wood syndrome

description: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


ATF6-related retinopathy

description: A retinopathy caused by biallelic variants in the AFT6 gene.


name: familial reactive perforating collagenosis

description: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.


eosinophilic pustular folliculitis

description: Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.


oligocone trichromacy

description: Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.


rotator cuff syndrome

description: Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.


description: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.


ulerythema ophryogenesis

description: Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.


name: autosomal recessive ataxia due to PEX2 deficiency


amino acid metabolism disease

description: A disease that has its basis in the disruption of cellular amino acid metabolic process.


name: developmental anomaly of metabolic origin


name: cerebellar ataxia and neurosensory deafness


Terrien marginal degeneration

description: A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


description: A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.


name: sickle cell-hemoglobin E disease syndrome

description: A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).


childhood malignant melanoma

description: A melanoma that occurs during childhood.


name: pregnancy disorder with abortive outcome

description: The unintentional or intentional loss of a pregnancy before 22 weeks gestation.


name: intellectual developmental disorder with impaired language and dysmorphic facies


hypotrichosis 9

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


isolated agammaglobulinemia

description: Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


ring chromosome 7

description: Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).


name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

description: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.


aluminosis

description: Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.


cesium poisoning

description: A heavy metal poisoning that is caused by exposure to cesium.


scarlet fever

description: A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.


Hepadnaviridae infectious disease

description: Virus diseases caused by the hepadnaviridae.


name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.


Ascaridida infectious disease

description: Infections with nematodes of the order ascaridida.


name: retinal dystrophy and microvillus inclusion disease


name: congenital infiltrating lipomatosis of the face


name: congenital muscular dystrophy caused by variation in POMGNT2

description: Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.


name: postaxial polydactyly type A, unilateral


inherited auditory system disease

description: An instance of auditory system disease that is caused by an inherited modification of the individual's genome.


axillary lymphadenitis

description: An infection of the lymph nodes in the axilla.


name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.


hypochondriasis

description: A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.


name: qualitative or quantitative defects of titin


name: Yersinia pseudotuberculosis infectious disease

description: Infections with bacteria of the species yersinia pseudotuberculosis.


acute myeloid leukemia, t(11;17)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


mixed germ cell tumor

description: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.


benign neoplasm of corpus uteri

description: A benign neoplasm that involves the body of uterus.


name: hyperphosphatemia, polyuria, and seizures


name: non-acquired pituitary hormone deficiency


toxascariasis

description: Infections with nematodes of the genus toxascaris.


moderate hypophosphatasia

description: Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.


AP-4 deficiency syndrome

description: A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.


kyphoscoliotic heart disease

description: Evidence of kyphoscoliotic heart disease.


granuloma inguinale

description: A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.


encephalitis lethargica

description: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


cancerophobia

description: An overwhelming, irrational, and persistent fear of being diagnosed with cancer.


name: corpus callosum dysgenesis hypopituitarism


benign thyroid gland neoplasm

description: A benign neoplasm arising from the thyroid gland.


retinal capillary malformation

description: Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.


postauricular lymphadenitis

description: Inflammation of the postauricular lymph nodes.


name: glycerol kinase deficiency, infantile form

description: Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.


isolated dystonia

description: A dystonia (disease) that is not part of a larger syndrome.


monocular esotropia

description: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.


name: vertebral hypersegmentation and orofacial anomalies


epithelial-stromal TGFBI dystrophy

description: Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.


name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies


name: adult progressive spinal muscular atrophy, Aran Duchenne type

description: A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.


name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


name: polyneuropathy, inflammatory demyelinating, chronic


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


vasculogenic impotence

description: Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.


bulbar polio

description: A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)


limb ischemia

description: A ischemia that involves the limb.


name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


name: Niemann-Pick disease type C, severe early infantile neurologic onset


vagina leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.


name: pituitary deficiency due to empty sella turcica syndrome


cutaneous botryomycosis

description: A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).


name: malignant giant cell tumor of soft parts

description: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.


miliaria

description: A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.


name: developmental delay, language impairment, and ocular abnormalities


L1 syndrome

description: L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.


coinfection

description: The simultaneous infection of a host by multiple pathogen species.


Mycobacterium avium complex disease

description: An infection that is caused by Mycobacterium avium.


name: Pseudomonas aeruginosa infectious disease


name: nasal cavity and paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


glycerol kinase deficiency, adult form

description: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.


name: endometrioid stromal and related neoplasms of the cervix

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


bacterial sexually transmitted disease

description: Bacterial diseases that are potentially transmitted or propagated by sexual conduct.


connective and soft tissue neoplasm

description: A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.


extrarenal rhabdoid tumor

description: A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


name: echinococcus granulosus infectious disease

description: An disease or disorder caused by infection with Echinococcus granulosus.


name: radial deficiency-tibial hypoplasia syndrome


ureter leiomyoma

description: A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: intellectual developmental disorder, X-linked 110


intracranial abscess

description: An abscess that is located in the intracranial space.


alexithymia

description: An agnosia that is a deficiency in understanding, processing, or describing emotions.


name: precursor T-cell acute lymphoblastic leukemia


name: facial abnormalities, kyphoscoliosis, and intellectual disability


name: spinal muscular atrophy with respiratory distress type 2

description: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.


name: myopathy with hexagonally cross-linked tubular arrays

description: Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.


name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


phenobarbital embryopathy

description: A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


nasal dermoid cyst

description: A dermoid cyst that involves the nose.


spinal cord ischemia

description: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: autosomal dominant epidermolytic ichthyosis

description: An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.


scleral disorder

description: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.


Banki syndrome

description: Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.


large cell medulloblastoma

description: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.


integrative agnosia

description: Agnosia characterized by the inability to integrate perceptual wholes within knowledge.


name: hemangioma, capillary infantile, susceptibility to

description: An inherited susceptibility or predisposition to developing capillary infantile hemangioma.


cataract 26 multiple types

description: A cataract that has material basis in variation in the region 9q13-q22.


name: combined oxidative phosphorylation deficiency 49


name: selective intrauterine growth restriction


non-seminomatous lesion

description: A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.


chronic salpingitis

description: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.


name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


name: Usmani-Riazuddin syndrome, autosomal recessive


dracunculiasis

description: Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).


male infertility due to globozoospermia

description: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


dental fluorosis

description: A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.


acrorenal syndrome, autosomal recessive

description: Autosomal recessive form of acrorenal syndrome.


name: autosomal dominant cerebellar ataxia type III

description: Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


laryngeal leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.


human prion disease

description: Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).


Eagle syndrome

description: Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.


name: autoinflammation with episodic fever and immune dysregulation


description: An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.


retinoschisis, autosomal dominant

description: Autosomal dominant form of retinoschisis.


name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

description: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.


name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


name: classic eosinophilic pustular folliculitis


name: circadian rhythm sleep disorder, irregular sleep wake type

description: A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.


disorder of sphingolipid biosynthesis

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


name: autosomal dominant nonsyndromic hearing loss

description: Autosomal dominant form of nonsyndromic deafness.


isolated congenital anonychia

description: Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.


pleomorphic rhabdomyosarcoma

description: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.


name: methylmalonic aciduria and/or homocystinuria, cblD type

description: An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.


name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


name: pancreatic beta cell agenesis with neonatal diabetes mellitus


miliaria profunda

description: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.


skull cancer

description: A malignant neoplasm involving the skull.


name: intellectual disability, autosomal recessive 19


hydroa vacciniforme, familial

description: An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.


name: spinocerebellar ataxia, autosomal recessive 31


polydactyly of an index finger

description: Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.


name: atypical hemolytic-uremic syndrome with anti-factor H antibodies


acquired mineral metabolism disease

description: An instance of mineral metabolism disease that is acquired during the lifetime of the individual.


name: pulmonary atresia with ventricular septal defect

description: Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.


neurofibromatosis type 2

description: A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


canine sarcoma

description: A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.


phacoanaphylactic uveitis

description: Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.


name: dominant pericentral pigmentary retinopathy

description: A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.


name: medulloblastoma SHH activated and TP53 mutant

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.


description: 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.


intraocular retinoblastoma

description: Retinoblastoma restricted to local involvement.


sphenoorbital meningioma

description: A meningioma that affects the sphenoorbital region.


name: HBA1; HBA2-related digenic alpha thalassemia spectrum

description: Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).


name: idiopathic hypersomnia without long sleep time

description: Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.


torsion dystonia with onset in infancy

description: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.


hyperkalemic renal tubular acidosis

description: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.


necrotic uveal melanoma

description: A uveal melanoma characterized by the presence of tumor cell necrosis.


clivus chondroid chordoma

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


name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis


fibroepithelial neoplasm

description: A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


psychosocial short stature

description: A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.


name: acute myeloid leukemia, GATA1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)


paraphilic disorder

description: Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)


fingerprint body myopathy

description: Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.


Quinquaud's folliculitis decalvans

description: Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.


name: internal pathological resorption of tooth


congenital smooth muscle hamartoma

description: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.


distal monosomy 12p

description: Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.


superficial corneal dystrophy

description: The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.


granulocytic sarcoma

description: A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)


name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

description: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.


malignant giant cell tumor

description: A malignant neoplasm characterized by then presence of atypical giant cells.


name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


carcinoid crisis

description: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.


childhood kidney Wilms tumor

description: A Wilms tumor of the kidney which occurs in children.


name: peroxisome biogenesis disorder due to PEX2 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


trisomy 1q

description: Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.


name: hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses


Friedreich ataxia 2

description: Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11


juvenile spondyloarthropathy

description: A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.


vitreous body disorder

description: Any disease affecting the vitreous body of the eye.


name: neuronopathy, distal hereditary motor, type 5C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive

description: Autosomal recessive form of distal hereditary motor neuropathy.


autosomal dominant Robinow syndrome

description: Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.


ocular tuberculosis

description: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.


uterine corpus rhabdomyosarcoma

description: A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.


name: granulomatous autoinflammatory syndrome of childhood


name: autosomal recessive nonsyndromic hearing loss 51

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.


name: isolated primary pigmented nodular adrenocortical disease


chester porphyria

description: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.


Japanese spotted fever

description: A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.


name: spastic diplegia and intellectual disability


name: multiple self-healing squamous epithelioma

description: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.


name: arthrogryposis due to muscular dystrophy


name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


name: spondyloepiphyseal dysplasia tarda, autosomal recessive

description: Autosomal recessive form of spondyloepiphyseal dysplasia tarda.


chlamydiaceae infections

description: Infections with bacteria of the family CHLAMYDIACEAE.


phonagnosia

description: An agnosia that is a loss of the ability to recognize familiar voices.


name: dermoid or epidermoid cyst of the central nervous system

description: A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.


olfactory nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.


name: polydactyly of a triphalangeal thumb, unilateral


primary polydipsia

description: A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.


name: progressive myoclonic epilepsy with dystonia

description: A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.


name: thygeson superficial punctate keratopathy

description: An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.


13q12.3 microdeletion syndrome

description: 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.


cone-rod dystrophy 8

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.


name: congenital temporomandibular joint ankylosis

description: Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.


name: intellectual developmental disorder and retinitis pigmentosa; IDDRP


name: Epstein-Barr virus-associated malignant lymphoproliferative disorder

description: A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals.


non-ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.


name: Cardioneuromyopathy with hyaline masses and nemaline rods


male reproductive organ cancer

description: A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.


tumor of salivary gland

description: A neoplasm (disease) that involves the saliva-secreting gland.


name: multisystem inflammatory syndrome in children and adults


supranuclear oculomotor palsy

description: Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.


thyroid sarcoma

description: A malignant soft tissue neoplasm primarily involving the thyroid gland.


craniofacial conodysplasia

description: Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.


name: intellectual developmental disorder with short stature and behavioral abnormalities


acute nonparalytic poliomyelitis

description: A poliomyelitis that does not exhibit paralysis.


tick-borne encephalitis

description: Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.


staphylococcus discitis

description: Discitis caused by infection with Staphylococcus.


alopecia mucinosa

description: A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.


acute gonococcal epididymo-orchitis

description: Acute form of gonococcal epididymo-orchitis.


dissociative disorder

description: A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.


name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


acrofacial dysostosis Preis type

description: Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: arthrogryposis multiplex with deafness, inguinal hernias, and early death


name: epidermolysis bullosa, junctional 2A, intermediate


name: cholestasis-pigmentary retinopathy-cleft palate syndrome

description: Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.


name: Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay


acute endophthalmitis

description: Acute form of endophthalmitis.


multifocal choroiditis

description: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.


name: classic congenital lipoid adrenal hyperplasia due to STAR deficency


tetanic cataract

description: A cataract resulting from hypocalcemia.


hypodermyiasis

description: Infestation with larvae of the genus Hypoderma, the warble fly.


Chapare hemorrhagic fever

description: Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.


canine sebaceous gland epithelioma

description: Sebaceous epithelioma occurring in a dog.


name: epidermolysis bullosa dystrophica Neurotrophica


description: Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.


vascular hyalinosis

description: A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.


juvenile onset pityriasis rubra pilaris

description: A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.


6p22 microdeletion syndrome

description: 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.


name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia


description: A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.


silent myocardial infarction

description: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.


acute gonococcal prostatitis

description: Acute form of gonococcal prostatitis.


upper clivus meningioma

description: A meningioma that affects the upper clivus.


name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)


trisomy 12p

description: Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.


name: epithelial and subepithelial corneal dystrophy


craniomicromelic syndrome

description: Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.


name: AXIN2-related attenuated familial adenomatous polyposis


name: growth delay-hydrocephaly-lung hypoplasia syndrome

description: Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.


acquired lipodystrophy

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


name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


amelia of upper limb

description: A non-syndromic amelia that involves the forelimb.


name: disease arising from reactivation of latent virus

description: An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.


nail tumor

description: A neoplasm involving a nail.


Rothmund-Thomson syndrome type 2

description: Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.


dysplasia of head of femur, Meyer type

description: Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.


reproductive system neoplasm

description: A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.


sexual masochism disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.


name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification


name: radius, aplasia of, with cleft lip/palate


benign neoplasm of pharynx

description: A benign neoplasm that involves the pharynx.


sporadic fatal insomnia

description: A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.


dacryocystitis-osteopoikilosis syndrome

description: Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).


adult epithelioid sarcoma

description: An epithelioid sarcoma occurring in adults.


hemometra

description: Blood-filled uterus.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


congenital primary lymphedema of Gordon

description: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.


platinum-induced ototoxicity

description: Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.


Wells syndrome

description: Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.


vesiculobullous skin disease

description: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)


femoral vein thrombophlebitis

description: A thrombophlebitis that involves the femoral vein.


name: macular dystrophy, fenestrated sheen type


description: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


name: Charcot-Marie-Tooth disease, dominant intermediate A


migraine with brainstem aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.


name: myasthenia, congenital, refractory to acetylcholinesterase inhibitors


name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation


acquired hemophilia

description: Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.


name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome


name: mitochondrial complex 4 deficiency, nuclear type 20


description: Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.


chronic urticaria

description: An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.


name: autosomal dominant nonsyndromic hearing loss 49

description: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.


median nerve neuropathy

description: Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).


name: intrauterine growth retardation with increased mitomycin c sensitivity


name: neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


name: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


pacman dysplasia

description: Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.


Brucella abortus brucellosis

description: A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.


multifocal motor neuropathy

description: Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.


trisomy 5p

description: Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.


name: spinal muscular atrophy, infantile, James type


name: intellectual developmental disorder, autosomal recessive 67


name: developmental delay with or without dysmorphic facies and autism


name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


name: furuncular myiasis due to Dermatobia hominis


name: recessive dystrophic epidermolysis bullosa-generalized other

description: Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.


name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies


name: hyperzincemia with functional zinc depletion


acquired idiopathic torsion dystonia

description: An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.


name: familial idiopathic dilatation of the right atrium

description: Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.


isolated microphthalmia

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


childhood-onset nemaline myopathy

description: Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.


lymph node cancer

description: A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004


name: muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers


malignant lymphatic vessel tumor

description: Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.


pressure-induced localized lipoatrophy

description: Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.


name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

description: An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.


heart-hand syndrome

description: Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.


name: posttransplant acute limbic encephalitis

description: Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.


perioral myoclonia with absences

description: Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.


name: factor VII and Factor VIII, combined deficiency of


name: X-linked cerebral-cerebellar-coloboma syndrome syndrome

description: A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.


name: neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


anterior foramen magnum meningioma

description: A meningioma that affects the anterior foramen magnum.


white platelet syndrome

description: White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.


neuronal ceroid lipofuscinosis 9

description: Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: Charcot-Marie-Tooth disease, demyelinating, type 1J


cutaneous mucinosis

description: The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).


name: Curly hair - acral keratoderma - caries syndrome

description: Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.


HAND1 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.


pustular pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.


name: fundus dystrophy, pseudoinflammatory, recessive form


description: A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)


name: jaundice, familial obstructive, of infancy


name: cleft palate-large ears-small head syndrome

description: Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.


name: isolated total cerebellar vermis agenesis


name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


immunodeficiency, common variable, 5

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.


hemophilic arthropathy

description: A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.


name: sacral hemangiomas multiple congenital abnormalities


biphasic synovial sarcoma

description: A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.


name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

description: This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.


name: Bryant-Li-Bhoj neurodevelopmental syndrome 1


description: Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.


name: autosomal dominant complex spastic paraplegia

description: Autosomal dominant form of complex hereditary spastic paraplegia.


name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis


name: syndromic X-linked intellectual disability 7

description: Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.


name: APC-related attenuated familial adenomatous polyposis


GATA5-related congenital heart defects

description: A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.


metachronous osteosarcoma of the bone

description: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.


intestinal botulism

description: A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).


name: benign partial epilepsy with secondarily generalized seizures in infancy

description: Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.


secondary dentine

description: Dentin formed by normal pulp after completion of root end formation.


linear IgA Dermatosis

description: Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).


Castleman-Kojima disease

description: A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly


immature cataract

description: A cataract disease in which the cataract contains some transparent protein


isolated adrenal insufficiency

description: An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


name: myasthenic syndrome, congenital, 25, presynaptic


congenital bowing of long bones

description: Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.


retroperitoneal cancer

description: A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.


hereditary spastic paraplegia 19

description: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.


name: dyskeratosis congenita, autosomal dominant 1

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.


endocardium disorder

description: A disease involving the endocardium.


lichen disease

description: A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.


anaplastic/large cell medulloblastoma

description: A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.


intracranial hypotension

description: Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)


name: pseudohypoaldosteronism, type IB2, autosomal recessive


name: short stature and microcephaly with genital anomalies


infantile epilepsy syndrome

description: An epilepsy syndrome that occurs between 28 days to one year of life.


congenital left-sided heart lesions

description: Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.


benign neoplasm of skin

description: A benign neoplasm that involves the zone of skin.


ancylostomiasis

description: Infection by hookworms of the genus Ancylostoma.


primary ciliary dyskinesia 8

description: A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.


name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

description: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.


glucocorticoid deficiency 3

description: A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.


name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease


neoplasm of cerebral hemisphere

description: A neoplasm involving a cerebral hemisphere.


name: Bowen syndrome of multiple malformations


name: prolactin deficiency with obesity and enlarged testes


GUCY2D retinopathy

description: Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


name: reversible cerebral vasoconstriction syndrome

description: Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.


name: ciliary dyskinesia with defective radial spokes


alpha-actinopathy

description: A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.


name: disorder of development or morphogenesis

description: Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.


myeloid sarcoma

description: A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)


name: arthrogryposis multiplex congenita-whistling face syndrome

description: Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.


name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


immunodeficiency 87 and autoimmunity

description: An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.


amyloidosis cutis dyschromia

description: Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.


faucial diphtheria

description: Infection of the fauces by Corynebacterium diphtheriae.


atrophic lichen planus

description: Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.


name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


name: triokinase and FMN cyclase deficiency syndrome


name: heterotopia, periventricular, associated with chromosome 5P anomalies


HSD10 disease, infantile type

description: HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


iatrogenic Kaposi's sarcoma

description: A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.


non-hodgkin lymphoma, dog

description: Non-hodgkin lymphoma that occurs in dog.


AIDS-related disorder

description: A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.


name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.


TUBB3-related tubulinopathy

description: A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.


name: autoinflammation with pulmonary and cutaneous vasculitis


name: acquired idiopathic inflammatory myopathy

description: An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.


name: spinal muscular atrophy with microcephaly and mental subnormality


erythrasma

description: A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.


glutaminase deficiency

description: Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.


name: complex cortical dysplasia with other brain malformations


name: short stature, oligodontia, dysmorphic facies, and motor delay


name: partial duplication of the long arm of chromosome 19


name: autosomal recessive nonsyndromic hearing loss 38

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.


name: mixed sclerosing bone dystrophy with extra-skeletal manifestations


name: autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

description: An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.