congenital disorder of glycosylation, type Iw, autosomal dominant


progressive scapulohumeroperoneal distal myopathy

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon


screw worm infectious disease

Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


radioulnar synostosis-developmental delay-hypotonia syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

Chromosomal disorder in which the chromosomal anomaly involves an autosome.


inherited neurodegenerative disorder

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


IVIC syndrome

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.


respiratory system benign neoplasm

A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


methylcobalamin deficiency type cblE

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


superficial Fibromatosis

A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


neurodevelopmental disorder with seizures and gingival overgrowth


choroidal dystrophy, central areolar, 1

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


trochlear nerve disorder

A disease involving the trochlear nerve.


neurotic depression

A term used for any state of depression that is not psychotic.


Morvan syndrome

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


atrial conduction disease

Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


osteosclerotic plasma cell myeloma

A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.


ciliary discoordination due to random ciliary orientation


A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003


mitochondrial complex 2 deficiency, nuclear type 2


Ross river fever

A disease caused by infection with Ross River virus.


aromatase excess syndrome

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.


childhood intracortical osteosarcoma

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


hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


progressive familial heart block

A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.


schizophrenia 12

A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


secondary glomerular disease

Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.


malignant ovarian cyst

A cystic cancerous tumor arising from the ovary.


amyotrophic neuralgia

An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.


periventricular nodular heterotopia 7

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.


Charlevoix-Saguenay spastic ataxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.


primary antiphospholipid syndrome

An antiphospholipid syndrome that occurs as an isolated disorder.


Desbuquois dysplasia 1

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.


mitochondrial complex 1 deficiency, nuclear type 37


Mitochondrial complex IV deficiency, nuclear type 22


acromelic frontonasal dysostosis

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.


omodysplasia

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.


acute myeloid leukemia, der12p

Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


foix chavany Marie syndrome

Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


TPM4-related platelet disorder

A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


superficial mycosis

A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


cardiovirus infectious disease

Infections caused by viruses of the genus cardiovirus, family picornaviridae.


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.


pontocerebellar hypoplasia type 4

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


tactile agnosia

An agnosia that is a loss of the ability to recognize or identify objects by touch alone.


neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


premature ovarian failure 8

Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.


tinea favosa

A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.


combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


acquired angioedema with C1Inh deficiency


amusia

An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.


Leber congenital amaurosis 4

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.


intellectual disability, autosomal recessive 47

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


syphilitic aortitis

Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.


dyskeratosis congenita, autosomal dominant 2

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


distal trisomy 20q

Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


butterfly-shaped pigment dystrophy

A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.


Senior-Boichis syndrome

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.


neonatal iodine exposure

A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.


platelet-type bleeding disorder 10

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.


neurodevelopmental disorder with neuromuscular and skeletal abnormalities


immunodeficiency 94 with autoinflammation and dysmorphic facies


paroxysmal familial ventricular fibrillation

A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


NYX-related retinopathy

An X-linked retinopathy caused by variants in the NYX gene.


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


pyrimidine metabolism disease

A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.


disorder of lysosomal-related organelles


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.


myostatin-related muscle hypertrophy

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


autosomal semi-dominant severe lipodystrophic laminopathy


Beemer-Langer syndrome

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.


vascular bone neoplasm

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


congenital disorder of glycosylation, type ICC


anti-HLA hyperimmunization

Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.


Senior-Loken syndrome 7

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


Charcot-Marie-Tooth disease, dominant intermediate G


myoclonus, familial, 2

Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.


pyruvate kinase hyperactivity

Autosomal dominant phenotype characterized by increase of red blood cell ATP.


galactosialidosis

A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.


clivus chordoma

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


sporadic amyotrophic lateral sclerosis

Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


autosomal dominant titinopathy

Autosomal dominant form of TTN-related myopathy.


fibroepithelial polyp

A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


gas gangrene

A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.


autosomal recessive spastic ataxia

Autosomal recessive form of spastic ataxia.


blepharophimosis-ptosis-epicanthus inversus syndrome plus


Murray valley encephalitis

An disease caused by infection with Murray Valley encephalitis virus.


severe combined immunodeficiency due to CARD11 deficiency

Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.


paramedian nasal cleft

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.


EYS-related retinopathy

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


ichthyosis, X-linked, without steroid sulfatase deficiency


fournier gangrene

An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.


Alzheimer disease 10

An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


benign infantile focal epilepsy with midline spikes and wave during sleep

Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.


Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


pili bifurcati

Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.


maternal uniparental disomy of chromosome 14

Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).


autosomal recessive limb-girdle muscular dystrophy type 2R1

An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.


phakomatosis pigmentokeratotica

Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.


intellectual disability, X-linked 91

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.


congenital absence of both forearm and hand, unilateral

Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.


Trichomonas tenax infectious disease

An disease or disorder caused by infection with Trichomonas tenax.


ulnar neuropathy

Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.


glossopharyngeal nerve neoplasm

A neoplasm involving a glossopharyngeal nerve.


pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.


retinitis pigmentosa 56

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.


immunodeficiency, common variable, 10

Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.


Charcot-Marie-Tooth disease axonal type 2O

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.


neurodevelopmental disorder with speech impairment and with or without seizures


ring chromosome 2

Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).


holoprosencephaly 11

Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.


angioid streaks of choroid

A angioid streaks that involves the optic choroid.


benign neoplasm of cerebrum

A benign neoplasm that involves the telencephalon.


foramen magnum meningioma

A meningioma that affects the foramen magnum.


Leber hereditary optic neuropathy, autosomal recessive


pregnancy associated osteoporosis

A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.


systolic heart failure

Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


supraglottis neoplasm

A benign or malignant neoplasm that affects the supraglottic area of the larynx.


acquired metabolic disease

An instance of metabolic disease that is acquired during the lifetime of the individual.


ovarian ectopic pregnancy

An abnormal pregnancy in which the conception is implanted on the ovary.


retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene


mitochondrial DNA depletion syndrome 8a

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.


oculodentodigital dysplasia

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.


familial amyotrophic lateral sclerosis

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


hereditary progressive mucinous histiocytosis

Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.


spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


neonatal sepsis

Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


taurodontia-absent teeth-sparse hair syndrome

This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.


urinary bladder tuberculosis

A tuberculosis that involves the urinary bladder.


congenital pseudoarthrosis of the tibia

A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.


lingual goiter

Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.


Coronaviridae infectious disease

Virus diseases caused by coronaviridae.


primary ciliary dyskinesia 15

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.


GATA1-Related X-Linked Cytopenia

X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.


partial trisomy of the long arm of chromosome 5

Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q 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.


Perrault syndrome 4

Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.


xeroderma pigmentosum, type G/cockayne syndrome


hereditary epidermal appendage anomaly

An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.


X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.


juvenile idiopathic inflammatory myopathy


hemophagocytic lymphohistiocytosis due to RhoG deficiency

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.


hyperekplexia 1

A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.


mitochondrial complex 1 deficiency, nuclear type 31


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


anaplastic cancer

A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.


leukodystrophy, hypomyelinating, 19, transient infantile


intellectual developmental disorder, autosomal recessive 78


intellectual disability, X-linked 45

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.


familial temporal lobe epilepsy syndrome

This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


bone angiosarcoma

A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.


vestibulocochlear nerve neoplasm

A neoplasm (disease) that involves the vestibulocochlear nerve.


uterine inversion

A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.


mitochondrial DNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


neuronal ceroid lipofuscinosis 3

A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


sensory ataxia

Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.


microcephaly 17, primary, autosomal recessive

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


autosomal dominant hypophosphatemic rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


prepuce cancer

A malignant neoplasm involving the prepuce.


torsion dystonia 6

Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.


autosomal recessive nonsyndromic hearing loss 84B

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


sporadic Creutzfeld Jacob disease

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.


late-adult onset retinitis pigmentosa

A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.


non-herpetic acute limbic encephalitis

Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.


tubal pregnancy

An abnormal pregnancy in which the conception is implanted in the fallopian tube.


kidney angiomyolipoma

An angiomyolipoma arising from the kidney.


porokeratotic eccrine ostial and dermal duct nevus

A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.


Leigh syndrome

A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.


corpus callosum dysgenesis X-linked recessive


immunodeficiency 105

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


Stankiewicz-Isidor syndrome

A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.


mitochondrial DNA depletion syndrome 20 (mngie type)


Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.


An embryonal rhabdomyosarcoma located in the parameningeal region.


photosensitive occipital lobe epilepsy

A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.


miliaria crystallina

A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.


myoclonic epilepsy in non-progressive encephalopathies

A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.


breast implant-associated anaplastic large cell lymphoma


chronic mast cell leukemia

A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.


microphthalmia with brain and digit anomalies

Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.


distal trisomy 3p

Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.


cone-rod dystrophy 3

Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.


lower lip fistula

A cysts and fistulae of the face and oral cavity that involves the lower lip.


Seckel syndrome 10

Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.


testicular leukemia

A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03


hypothyroidism, congenital, nongoitrous, 8


inborn disorder of ornithine, proline and hydroxyproline metabolism

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.


hereditary renal hypouricemia

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).


spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.


cholesteryl ester storage disease

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.


brachial plexus neuritis

An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.


univentricular heart with single atrio-ventricular valve


autosomal dominant Robinow syndrome 1

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.


autosomal dominant disease

Autosomal dominant form of disease.


congenital epulis

A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.


cerebellar ataxia and hypergonadotropic hypogonadism


AREDYLD syndrome

AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.


autoinflammatory syndrome, familial, X-linked, Behcet-like 2


Young syndrome

Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.


central nervous system cystic malformation


autosomal recessive spastic paraplegia type 66


supratentorial meningioma

A meningioma that affects the supratentorial brain.


choroidal dystrophy, central areolar 2

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


retinitis pigmentosa 39

Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.


congenital disorder of glycosylation, type IIy


West-Nile encephalitis

An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.


Japanese encephalitis

A disease due to a virus transmitted by an arthropod).


melanocytic skin neoplasm

A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

A disease that involves the orbital region.


sialidosis

Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.


methemoglobinemia type 4

Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.


bacterial exanthem

A bacteria-induced exanthem


retinitis pigmentosa 76

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.


pituitary hormone deficiency, combined, 2

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.


mycotoxicosis

Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).


beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


congenital cerebellar ataxia due to RNU12 mutation

A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.


refractory hematologic cancer

A hematologic malignancy that is resistant to treatment.


multifocal osteogenic sarcoma

A primary bone osteosarcoma affecting multiple bone sites.


facial dermoid cyst

Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.


trypanosomiasis

Infection with protozoa of the genus trypanosoma.


tooth agenesis, selective, 4

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.


RLBP1-related retinopathy

A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.


von Willebrand disease type 2M

A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.


barbiturate abuse

A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.


An electroclinical syndrome with onset in adolescence and adulthood.


autoimmune urticaria

An autoimmune form of urticaria (disease).


aspergillus niger infection

A infectious disease involving the Aspergillus niger.


neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


mesomelic dwarfism-cleft palate-camptodactyly syndrome

Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.


oculootodental syndrome

Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.


malignant Leydig cell tumor

A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.


actinic lichen planus

Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.


inflammatory liposarcoma

A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.


Warburg micro syndrome 4

Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.


dentatorubral-pallidoluysian atrophy

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.


abdominal tuberculosis

An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.


Usher syndrome type 1J

Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.


hematohidrosis

Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.


qualitative or quantitative defects of calpain


neurodevelopmental disorder with impaired language and ataxia and with or without seizures


posterior cranial fossa meningioma

A meningioma that affects the posterior cranial fossa.


hereditary sebaceous gland anomaly

An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.


disorder of visual system

A disease that involves the visual system.


X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.


overhydrated hereditary stomatocytosis

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.


congenital pericardium anomaly

Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).


renal hypomagnesemia 3

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.


anosmia, isolated congenital, X-linked

X-linked form of anosmia, isolated congenital.


posterior polymorphous corneal dystrophy 3

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


vesicoureteral reflux 3

Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.


Ehlers-Danlos syndrome, fibronectinemic type

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.


46,XX sex reversal 1

Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).


Seckel syndrome 8

Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.


lung agenesis-heart defect-thumb anomalies syndrome

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.


juvenile dermatomyositis

Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.


pulmonary hypertension, primary, 2

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.


atrial septal defect 4

Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.


lissencephaly due to TUBA1A mutation

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.


epidermolysis bullosa simplex 2A, generalized severe


TMEM165-congenital disorder of glycosylation

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).


cancer-associated retinopathy

Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.


striatal degeneration, autosomal dominant 2

Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.


primary coenzyme Q10 deficiency 8

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.


wound botulism

Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.


pityriasis lichenoides

A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).


thanatophoric dysplasia, Glasgow variant


parkinsonism-dystonia, infantile

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.


congenital primary megaureter

An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.


autosomal recessive nonsyndromic hearing loss 17

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.


coccygodynia

Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.


nemaline myopathy 5C, autosomal dominant


Charlie M syndrome

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.


Usher syndrome type 1C

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.


milker's nodule

Virus diseases caused by the poxviridae.


glottis cancer

A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.


acquired purpura fulminans

A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


clonorchiasis

Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)


Zimmermann-Laband syndrome 1

Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.


autosomal recessive lower motor neuron disease with childhood onset

A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


Charcot-Marie-Tooth disease, Guadalajara neuronal type


partial duplication of the short arm of chromosome 7

Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. 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 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


neurodegeneration with brain iron accumulation 2B


atelosteogenesis type III

A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.


intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


hydroa vacciniforme-like lymphoma

A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.


Schistosoma mansoni infectious disease

An infection that is caused by Schistosoma mansoni.


14q32 duplication syndrome

14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


radial neuropathy

Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.


mitochondrial non-syndromic sensorineural hearing loss


alacrima, congenital, autosomal recessive


neural tube closure defect

A disease that has its basis in the disruption of neural tube closure.


inclusion body myopathy and brain white matter abnormalities


neurodevelopmental disorder with language delay and seizures


gingival fibroepithelial polyp

A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


autosomal dominant nonsyndromic hearing loss 25

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.


pontocerebellar hypoplasia type 2E

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.


female urethral cancer

A cancer that involves the female urethra.


infiltrating lipoma

A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.


anterior spinal artery syndrome

Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)


GM1 gangliosidosis type 3

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.


childhood-onset Steinert myotonic dystrophy


hyperphosphatasia with intellectual disability syndrome 4

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.


acute ackee fruit intoxication

Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


qualitative or quantitative defects of plectin


immunodeficiency 25

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.


ichthyosis-cheek-eyebrow syndrome

Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.


mitochondrial complex 4 deficiency, nuclear type 8


atypical dentin dysplasia due to SMOC2 deficiency


autosomal recessive nonsyndromic hearing loss 101

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.


Joubert syndrome 28

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.


non-cutaneous melanoma

Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)


vitamin K-dependent clotting factors, combined deficiency of, type 2

Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.


hypothalamic adipsic hypernatraemia syndrome


Pick disease

A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


colobomatous microphthalmia-rhizomelic dysplasia syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


familial hypoparathyroidism

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.


peritoneal neoplasm

A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


rhizomelic syndrome, Urbach type

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.


retinitis pigmentosa 48

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.


Morgagni cataract

A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.


neurotic excoriation

A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.


Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.


malignant tumor of parathyroid gland

A cancer that involves the parathyroid gland.


neuroferritinopathy

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


thrombocytopenia 5

Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.


chronic dacryoadenitis

Chronic form of dacryoadenitis.


chromosome 1, uniparental disomy 1q12 q21


Charcot-Marie-Tooth disease recessive intermediate D

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.


bathing suit ichthyosis

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.


non-amyloid monoclonal immunoglobulin deposition disease


neuronopathy, distal hereditary motor, type 5B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.


focal facial dermal dysplasia type II

Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


celiac trunk compression syndrome

A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.


disorder of galactose and fructose metabolism

An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


autosomal dominant cerebellar ataxia

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


premature ovarian failure 5

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


RDH12-related recessive retinopathy

A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.


combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.


Alzheimer disease 8

An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.


synovium cancer

A cancer that involves the layer of synovial tissue.


transposition of the great arteries and conotruncal cardiac anomaly


Freiberg disease

Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.


anterior urethra cancer

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


erythrokeratodermia variabilis et progressiva 7


neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


mitochondrial complex 4 deficiency, nuclear type 3


pseudoachondroplasia

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.


benign mixed tumor of the vulva

A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.


retinitis pigmentosa 23

Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.


intellectual developmental disorder, autosomal dominant 73


adrenal medulla cancer

A malignant neoplasm involving the adrenal medulla


amyotrophic lateral sclerosis type 18

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.


osteogenesis imperfecta type 16

An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.


mitochondrial complex 1 deficiency, nuclear type 10


nonsyndromic congenital nail disorder 3

Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.


Hodgkin's lymphoma, lymphocytic-histiocytic predominance

A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)


pericardial effusion, chronic

Chronic form of pericardial effusion (disease).


childhood gonadal germ cell tumor

A germ cell tumor that arises from the testis or ovary and occurs during childhood.


auditory agnosia

An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.


primitive neuroectodermal tumor of the cervix uteri

Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


primary ciliary dyskinesia 27

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.


paraneoplastic neurologic syndrome

A paraneoplastic syndrome that involves the nervous system.


SBDS-related severe neonatal spondylometaphyseal dysplasia


congenital pseudoarthrosis of the radius


mitochondrial complex 1 deficiency, nuclear type 24


combined dystonia

A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


isolated cleft palate

A cleft palate that is not part of a larger syndrome.


benign peritoneal solitary fibrous tumor

A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.


Weill-Marchesani syndrome 2, dominant

A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


intellectual disability, autosomal recessive 43

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.


atrial fibrillation, familial, 11

Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


generalized pustular psoriasis

A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


Yunis-Varon syndrome

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


acute mountain sickness

Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.


maternal uniparental disomy of chromosome 16


metaphyseal chondrodysplasia, Spahr type


sickle cell disease associated with an other hemoglobin anomaly


gonococcal spondylitis

An spondylitis caused by infection with Neisseria gonorrhoeae.


trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


melanoma associated retinopathy

Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.


encephalocraniocutaneous lipomatosis

A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.


rabies

Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.


imperforate oropharynx-costo vetebral anomalies syndrome

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.


caudal regression sequence

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.


Seckel syndrome 7

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.


T-B+ severe combined immunodeficiency

T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.


cranial neuralgia

A neuralgia that involves the cranial neuron projection bundle.


myopathy, myofibrillar, 9, with early respiratory failure


Joubert syndrome 15

Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.


encephalomyelitis

Inflammation of the brain and the spinal cord.


Wallerian degeneration

A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.


advanced sleep phase syndrome 3

Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.


blepharophimosis - intellectual disability syndrome, MKB type

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.


Bjornstad syndrome

Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.


malignant peritoneal solitary fibrous tumor

A malignant form of peritoneal solitary fibrous tumor.


congenital bile acid synthesis defect 3

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.


lysosomal lipid storage disorder

An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


short-rib thoracic dysplasia 8 with or without polydactyly

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


galactose epimerase deficiency

Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Keutel syndrome

Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.


congenital disorder of glycosylation, type Ibb


familial porencephaly

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


mitochondrial DNA depletion syndrome, hepatocerebral form


hookworm infectious disease

Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.


variant ABeta2M amyloidosis

A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.


early congenital syphilis

A congenital syphilis that is manifested between 0 and 2 years old.


combined oxidative phosphorylation defect type 17

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.


Doyne honeycomb retinal dystrophy

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.


trigonocephaly 2

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


spermatogenic failure 12

Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.


skull neoplasm

A benign or malignant neoplasm that affects the bones and structures of the skull.


helicoid peripapillary chorioretinal degeneration

Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.


microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.


trisomy 10p

Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.


hypotonia, infantile, with psychomotor retardation and characteristic facies

A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


intellectual disability, X-linked 19

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.


combined oxidative phosphorylation deficiency 45


immunodeficiency 67

An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


Gaisbock syndrome

Polycythemia that is caused by stress.


CPOX-related hereditary coproporphyria

Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


brain hypoxia - ischemia

A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.


autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


nephrogenic syndrome of inappropriate antidiuresis

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


inherited dystonia

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


hypercarotenemia and vitamin A deficiency, autosomal recessive


plantar nerve lesion

A peripheral nerve lesion that involves the plantar nerve.


null syndrome

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


idiopathic hypersomnia

Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.


Bietti crystalline corneoretinal dystrophy

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.


hereditary spastic paraplegia 11

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.


D-glyceric aciduria

A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


hypotrichosis simplex

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.


cutaneous porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


Singleton-Merten dysplasia

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).