vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


cerebrocostomandibular syndrome

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

description: Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.


maculopapular cutaneous mastocytosis

description: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


thalamic disorder

description: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


name: spondyloepiphyseal dysplasia, MacDermot type

description: Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.


tricarboxylic acid cycle disorder

description: An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


Alzheimer disease type 1

description: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


cervical artery dissection

description: A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.


name: combined oxidative phosphorylation deficiency 58


PENS syndrome

description: PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


name: malignant epithelial tumor of salivary glands


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


fallopian tube disorder

description: A disease involving the fallopian tube.


name: chronic mucocutaneous candidiasis due to lymphokine deficiency


annular atrophic lichen planus

description: Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.


Borjeson-Forssman-Lehmann syndrome

description: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


eccrine mixed tumor of skin

description: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.


SAMHD1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.


PSAT deficiency

description: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.


name: developmental and epileptic encephalopathy, 69


pontocerebellar hypoplasia type 6

description: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


name: corticosterone methyloxidase type 2 deficiency


name: FASTKD2-related infantile mitochondrial encephalomyopathy


osteogenesis imperfecta, type 18

description: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).


name: glutathione synthetase deficiency without 5-oxoprolinuria


autosomal dominant hypocalcemia 1

description: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.


primary lymphoma of the conjunctiva

description: Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.


name: ossification anomalies-psychomotor developmental delay syndrome

description: Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.


name: non-syndromic metopic and sagittal craniosynostosis


name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type


description: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.


name: chlamydia trachomatis infectious disease

description: An infection that is caused by Chlamydia trachomatis.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


name: hypogonadotropic hypogonadism 24 without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.


ventricular tachycardia, familial

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


bilateral frontoparietal polymicrogyria

description: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.


name: partial duplication of the long arm of chromosome 3

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


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


name: acrofacial dysostosis, Kennedy-Teebi type

description: Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


nutritional deficiency disease

description: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


cerebellar neoplasm

description: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003


autosomal recessive osteopetrosis 3

description: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.


supine hypotensive syndrome

description: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


name: syndromic X-linked intellectual disability Siderius type


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


penile sarcoma

description: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


description: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.


acute frontal sinusitis

description: Acute form of frontal sinusitis.


benign neonatal seizures

description: A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


name: congenital anomaly of kidney and urinary tract

description: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.


valvar pulmonary stenosis

description: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


name: autosomal recessive limb-girdle muscular dystrophy type 2L

description: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.


name: developmental and epileptic encephalopathy, 90


name: spastic paraplegia 86, autosomal recessive


name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


name: intellectual developmental disorder, autosomal recessive 68


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


congenital myopathy, Paradas type

description: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.


near-fatal asthma

description: An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.


neuritis of upper limb

description: A neuritis that involves the forelimb.


name: Ambras type hypertrichosis universalis congenita

description: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.


name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


non specific chronic endometritis

description: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.


name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


skin angiosarcoma

description: A malignant vascular neoplasm arising from the skin.


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


myopathy, distal, 5

description: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


escherichia coli discitis

description: Discitis caused by infection with Escherichia coli.


name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


inherited epidermolysis bullosa

description: Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


name: combined hyperactive dysfunction syndrome of the cranial nerves


immunodeficiency 47

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.


ocular vascular disorder

description: A disorder that is caused by pathologic changes in the ocular vasculature.


name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

description: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.


adult pleomorphic rhabdomyosarcoma

description: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


interventricular septum aneurysm

description: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.


name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

description: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


name: severe nonproliferative diabetic retinopathy


name: autosomal recessive nonsyndromic hearing loss 102

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


name: neurodevelopmental disorder with hypotonia and gross motor and speech delay


brachial amyotrophic diplegia

description: A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.


UV-sensitive syndrome

description: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.


early onset hypertension

description: A form of hypertension with early onset relative to normal range for a given population.


isolated congenital alacrima

description: Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.


name: partial trisomy of the long arm of chromosome 18


lissencephaly 6 with microcephaly

description: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.


name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


name: neurodevelopmental disorder with epilepsy and brain atrophy


name: peroxisome biogenesis disorder 4A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


heart failure

description: Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.


mucosal melanoma

description: A melanoma that arises from a mucosal site.


17q11.2 microduplication syndrome

description: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


mitochondrial complex III deficiency

description: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).


name: spondyloepiphyseal dysplasia, kondo-fu type


corneal dystrophy, Fuchs endothelial, 4

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.


plasma cell neoplasm

description: A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.


erythroid neoplasm

description: A neoplasm affecting cells of the erythroid lineage.


childhood testicular choriocarcinoma

description: A choriocarcinoma that arises from the testis during childhood.


name: metachromatic leukodystrophy, late infantile form


myofibrillar myopathy 5

description: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.


name: paternal uniparental disomy of chromosome 1

description: Paternal uniparental disomy of chromosome 1 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.


Charcot-Marie-Tooth disease type 3

description: A demyelinating peripheral neuropathy characterized by delayed motor development.


name: SLC10A7-congenital disorder of glycosylation

description: SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.


name: developmental and epileptic encephalopathy, 48

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


name: Nodal T-follicular helper cell lymphoma, follicular type


adhesive otitis media

description: An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.


myotonic dystrophy type 2

description: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


lepromatous leprosy

description: A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.


Wilms tumor 5

description: Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.


name: isolated bilateral hemispheric cerebellar hypoplasia

description: Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.


name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies


spinocerebellar ataxia type 38

description: Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.


tricho-dento-osseous syndrome

description: Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.


primary ciliary dyskinesia 6

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.


name: RNASEH2A-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Joubert syndrome with ocular defect

description: Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.


Allen-Masters syndrome

description: A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.


name: neurodevelopmental disorder with poor growth and skeletal anomalies


name: spondyloepimetaphyseal dysplasia, aggrecan type

description: A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.


name: intellectual disability, autosomal recessive 56

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.


T-cell adult acute lymphocytic leukemia

description: An acute T-lymphoblastic leukemia occurring in adults.


name: acute myeloid leukemia, t(16;21)(p11;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)


cataract 19 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.


pseudohypoparathyroidism type 2

description: Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.


CNGB3-related retinopathy

description: A retinopathy caused by biallelic variants in the CNGB3 gene.


name: ciliary dyskinesia, primary, 49, without situs inversus


distal monosomy 13q

description: Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.


gonococcal bursitis

description: An bursitis caused by infection with Neisseria gonorrhoeae.


description: A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.


name: multiple mitochondrial dysfunctions syndrome 3

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


focal segmental glomerulosclerosis 6

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.


name: split-foot malformation-mesoaxial polydactyly syndrome


acquired agranulocytosis

description: Agranulocytosis that is autoimmune in origin.


stromal corneal pigmentation

description: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.


retinal cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.


name: chromosome 19q13.11 deletion syndrome, distal

description: Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.


name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

description: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.


name: dyskeratosis congenita, autosomal recessive 6

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.


name: spinal muscular atrophy with congenital bone fractures 2

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.


name: autosomal recessive frontotemporal pachygyria


overnutrition

description: An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.


description: Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.


reciprocal translocation down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.


inherited kidney disorder

description: A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.


familial spontaneous pneumothorax

description: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.


bilateral multicystic dysplastic kidney

description: Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.


exercise-induced bronchoconstriction

description: An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.


epilepsy, familial temporal lobe, 1

description: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


name: hyperammonemia due to N-acetylglutamate synthase deficiency

description: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


acromesomelic dysplasia 2A

description: An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.


primary pulmonary lymphoma

description: Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).


retinitis pigmentosa 43

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.


name: granulomatous disease with defect in neutrophil chemotaxis


calciphylaxis cutis

description: Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.


phimosis

description: A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.


ATTRV30M amyloidosis

description: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.


description: The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.


name: congenital myopathy 2c, severe infantile, autosomal dominant


Tay-Sachs disease AB variant

description: GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.


name: limbic encephalitis with caspr2 antibodies

description: Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.


name: polymicrogyria, bilateral perisylvian, autosomal recessive


congenital fibrinogen deficiency

description: Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).


name: Charcot-Marie-Tooth disease axonal type 2Z

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.


description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.


name: chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


benign struma ovarii

description: A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.


episodic ataxia type 5

description: Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.


acute gonococcal salpingitis

description: Acute form of gonococcal salpingitis.


name: neurodevelopmental disorder with or without autism or seizures


description: An epilepsy syndrome that has an onset during the adolescent or adult stage of life.


name: congenital disorder of glycosylation syndrome type 4


name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


eye allergy

description: An allergic disease involving a pathogenic inflammatory response in the camera-type eye.


name: muscle-eye-brain disease with bilateral multicystic leucodystrophy

description: Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.


name: hypomagnesemia, seizures, and intellectual disability 2


name: hypomyelination with brain stem and spinal cord involvement and leg spasticity


name: autosomal recessive nonsyndromic hearing loss 5

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.


mosaic trisomy 9

description: Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.


name: nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


name: cortical dysplasia, complex, with other brain malformations 12


heterotaxy, visceral, 4, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.


nephronophthisis 9

description: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


reticuloendotheliosis, X-linked

description: A greater than normal number of blood cells in the reticuloendothelial system.


semantic agnosia

description: An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.


name: myeloproliferative disease, autosomal recessive


geleophysic dysplasia 1

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


combat disorder

description: Neurotic reactions to unusual, severe, or overwhelming military stress.


name: developmental and epileptic encephalopathy, 79


name: developmental and epileptic encephalopathy, 40

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


name: medulloblastoma SHH activated and TP53 wild-type

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


name: lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy


polycythemia due to hypoxia

description: Polycythemia resulting from hypoxia.


congenital coronary artery aneurysm

description: Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.


congenital myopathy 23

description: Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.


name: intellectual disability, autosomal recessive 60


name: cerebellar hypoplasia-tapetoretinal degeneration syndrome

description: Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.


hereditary hypophosphatemic rickets

description: Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.


skin lipoma

description: A benign or malignant adipose tissue neoplasm of the skin.


hibernoma

description: A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


zoster sine herpete

description: Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.


name: neurodevelopmental disorder with or without seizures and gait abnormalities


name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


dystonia 5

description: Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


aerobic Actinomyces infection

description: Infection with the less common aerobic antinomyces bacteria.


agnathia-otocephaly complex

description: Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.


name: autosomal dominant nonsyndromic hearing loss 66

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


isolated optic neuritis

description: A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.


acromesomelic dysplasia

description: A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type


primary basilar invagination

description: Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.


19p13.12 microdeletion syndrome

description: 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


Adams-Oliver syndrome 5

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.


name: conductive deafness-ptosis-skeletal anomalies syndrome

description: Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.


mosquito-borne viral encephalitis

description: Viral encephalitis that is transmitted by mosquitos.


name: autosomal recessive nonsyndromic hearing loss 42

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


name: lissencephaly 9 with complex brainstem malformation


spermatogenic failure 5

description: Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


nephronophthisis 14

description: Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.


congenital bronchobiliary fistula

description: Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.


name: neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


name: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


11p15.4 microduplication syndrome

description: 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.


name: Ullrich congenital muscular dystrophy 1A


primary syphilis

description: The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.


malignant tumor of adrenal cortex

description: A cancer that involves the adrenal cortex.


name: autosomal recessive spinocerebellar ataxia 11

description: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.


vibratory angioedema

description: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


dystonia 23

description: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


desmoplastic spitz nevus

description: A Spitz nevus associated with fibrous stroma formation.


name: Ehlers-Danlos syndrome, musculocontractural type 2

description: Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.


distal trisomy 5q

description: Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).


name: circadian rhythm sleep disorder, advanced sleep phase type

description: A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.


cataract 1 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.


toluene embryopathy

description: Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.


MRI defined brain infarct

description: An infarct detected by MRI and not determined to be clinically significant


name: transient neonatal multiple acyl-CoA dehydrogenase deficiency

description: Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


Oroya fever

description: An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.


name: chondroectodermal dysplasia with night blindness

description: Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.


familial hyperaldosteronism type II

description: Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.


name: developmental and epileptic encephalopathy, 3

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy


osteogenesis imperfecta type 3

description: Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


description: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.


name: erythrokeratodermia variabilis et progressiva 1


hereditary spastic paraplegia 52

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


root resorption

description: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)


classic congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.


microform holoprosencephaly

description: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


orofaciodigital syndrome III

description: Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.


description: Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.


name: split-hand/foot malformation with long bone deficiency 1


nontoxic goiter

description: Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.


pulmonary artery leiomyosarcoma

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


pulmonary nodular lymphoid hyperplasia

description: Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.


environmental induced asthma

description: An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.


methemoglobin reductase deficiency

description: Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.


vesicoureteral reflux 2

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


name: T-cell childhood acute lymphocytic leukemia

description: An acute lymphoblastic leukemia of T-cell origin occurring in children.


cardiac valvular dysplasia, X-linked

description: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


name: Schistosoma japonicum infectious disease

description: An infection that is caused by Schistosoma japonicum.


herpes zoster with dermatitis of eyelid

description: A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.


melanotic medulloblastoma

description: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


name: autosomal dominant cerebellar ataxia type I

description: Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


name: myopathy, centronuclear, 6, with fiber-type disproportion


drug-induced methemoglobinemia

description: Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).


name: congenital insensitivity to pain with hyperhidrosis


dislocation of ear ossicle

description: Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.


combined ApoA-I and ApoC-III deficiency

description: A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


noma

description: Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.


name: complete atrioventricular canal-ventricle hypoplasia syndrome


lymphatic malformation 4

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.


ulnar hemimelia

description: Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.


name: severe phosphoribosylpyrophosphate synthetase superactivity

description: Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.


age related macular degeneration 6

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


description: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.


name: autosomal recessive nonsyndromic hearing loss 124


name: fibrosis of extraocular muscles, congenital, 3c


name: isolated unilateral hemispheric cerebellar hypoplasia

description: Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.


retinitis pigmentosa 30

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


name: hyper-IgE recurrent infection syndrome 4A, autosomal dominant

description: An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.


name: lipodystrophy due to peptidic growth factors deficiency

description: Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).


endometrial type cervical adenomyoma

description: An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.


spitz nevus

description: A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.


German syndrome

description: German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.


description: A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.


CNGB1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.


Foster-Kennedy syndrome

description: An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.


name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.


name: hyper-IgE syndrome 6, autosomal dominant, with recurrent infections


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


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


name: neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


fetal akinesia deformation sequence 2

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


name: microphthalmia, isolated, with cataract 1


name: autosomal recessive nonsyndromic hearing loss 71

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.


name: benign familial nocturnal alternating hemiplegia of childhood

description: Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.


Reis-Bucklers corneal dystrophy

description: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.


nephrotic syndrome, type 11

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.


name: microcephaly 28, primary, autosomal recessive


spindle cell oncocytoma

description: A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.


name: MELAS syndrome caused by mutation in MTTL1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.


pneumonic tularemia

description: A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.


nasopharyngeal diphtheria

description: Infection of the nasopharynx by Corynebacterium diphtheriae.


form agnosia

description: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.


posterior cerebral artery infarction

description: Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).


nervous system neoplasm

description: A neoplasm (disease) that involves the nervous system.


name: mitochondrial DNA deletion syndrome with progressive myopathy


tetrasomy 21

description: Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.


cranioectodermal dysplasia 3

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.


name: immunodeficiency 113 with autoimmunity and autoinflammation


superficial epidermolytic ichthyosis

description: Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.


name: odontochondrodysplasia 2 with hearing loss and diabetes


name: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency

description: An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).


name: MELAS syndrome caused by mutation in MTTS1

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.


name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


congenital contractural arachnodactyly

description: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.


optic atrophy 11

description: Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.


bullous impetigo

description: Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.


spondyloarthropathy

description: A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.


name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma

description: A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.


name: neuropathy, congenital hypomyelinating, 2


immunodeficiency 81

description: A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.


spermatogenic failure 11

description: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


upper limb mononeuronitis

description: A disease affecting a single peripheral nerve of the upper limb.


striated muscle rhabdoid tumor

description: A rhabdoid tumor that involves the striated muscle tissue.


name: inborn disorder of aspartate family metabolism

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


isolated aniridia

description: Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.


mixed-type autoimmune hemolytic anemia

description: Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.


benign conjunctival neoplasm

description: Abnormal growth of the cells of the conjunctiva without malignant characteristics.


Leber congenital amaurosis 7

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.


mild phenylketonuria

description: Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.


name: short-rib thoracic dysplasia 19 with or without polydactyly


name: intellectual disability, autosomal recessive 52

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


amyotrophic lateral sclerosis type 5

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.


name: developmental delay and seizures with or without movement abnormalities

description: DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).


mu-heavy chain disease

description: Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).


name: progressive familial heart block type II


name: congenital stationary night blindness 1D

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.


neoplasm of floor of mouth

description: A neoplasm (disease) that involves the mouth floor.


buccal mucosa neoplasm

description: A neoplasm (disease) that involves the buccal mucosa.


vulvar lichen sclerosus

description: A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.


name: RFT1-congenital disorder of glycosylation

description: RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).


cervical adenofibroma

description: A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.


myosclerosis

description: Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.


Charcot-Marie-Tooth disease type 2R

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.


pre-malignant neoplasm

description: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.


name: immunodeficiency due to ficolin3 deficiency


name: isolated partial cerebellar vermis agenesis


name: developmental and epileptic encephalopathy, 18


name: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

description: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.


cortisone reductase deficiency

description: A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.


benign peritoneal mesothelioma

description: A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.


name: intellectual disability, autosomal recessive 9


name: non-syndromic X-linked intellectual disability

description: Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.


Rickettsia parkeri spotted fever

description: A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.


meralgia paresthetica

description: Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.


Leber congenital amaurosis 10

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.


description: X-linked form of spondyloepimetaphyseal dysplasia.


glanders

description: A condition resulting from infection by Burkholderia mallei, which mainly affects horses.


eyelid seborrheic keratosis

description: A seborrheic keratosis that involves the eyelid.


name: familial hemophagocytic lymphohistiocytosis 2

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.


calcifying epithelial odontogenic tumor

description: A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.


hemidystonia-hemiatrophy syndrome

description: Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.


name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


name: spondyloepiphyseal dysplasia tarda, autosomal dominant

description: Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.


monosomy 13q34

description: Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.


congenital bile acid synthesis defect 5

description: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


acral peeling skin syndrome

description: Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


SNRNP200-related dominant retinopathy

description: A retinopathy caused by heterozygous variants in the SNRNP200 gene.


leiomyosarcoma of the cervix uteri

description: Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.


chromosome 13q14 deletion syndrome

description: Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.


name: acquired hemophagocytic lymphohistiocytosis associated with malignant disease


PHACE syndrome

description: PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.


barbiturate dependence

description: A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.


manganese poisoning

description: Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)


name: autosomal recessive myogenic arthrogryposis multiplex congenita

description: Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.


Hao-Fountain syndrome

description: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).


name: neuronopathy, distal hereditary motor, type 2B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


name: dyskeratosis congenita, autosomal recessive 3

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.


cranioectodermal dysplasia

description: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


name: DPM3-congenital disorder of glycosylation

description: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


paragonimiasis

description: A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.


synaptopathy

description: A disease caused by dysfunction of synapses.


7p22.1 microduplication syndrome

description: 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.


Siegler-Brewer-Carey syndrome

description: Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.


name: congenital myopathy 4A, autosomal dominant