name: lissencephaly with cerebellar hypoplasia type E

description: Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.


name: microphthalmia, isolated, with coloboma 8

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


nevus of Ito

description: Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


lymphomatoid papulosis

description: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked


name: cerebellar dysfunction with variable cognitive and behavioral abnormalities

description: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).


name: infantile osteopetrosis with neuroaxonal dysplasia

description: This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.


white sponge nevus 1

description: Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.


corneal infection

description: A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.


Bailey-Bloch congenital myopathy

description: Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.


congenital cataract-ichthyosis syndrome

description: Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.


name: gastrointestinal defect and immunodeficiency syndrome


name: non-neonatal early infantile epileptic encephalopathy

description: Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


name: aniridia-ptosis-intellectual disability-familial obesity syndrome

description: Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


amelogenesis imperfecta type 1E

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.


name: neuronopathy, distal hereditary motor, autosomal dominant

description: Autosomal dominant form of distal hereditary motor neuropathy.


name: marcothrombocytopenia with mitral valve insufficiency

description: Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.


name: deafness conductive stapedial ear malformation facial palsy


name: Duane retraction syndrome with congenital deafness

description: A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.


hyperekplexia 3

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.


name: cerebroretinal microangiopathy with calcifications and cysts 2

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.


treatment-refractory schizophrenia

description: Schizophrenia which does not respond to commonly used treatments.


auriculocondylar syndrome 2

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


congenital tricuspid stenosis

description: Tricuspid valve stenosis that is present at birth.


spinal dermal sinus

description: A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.


name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


testicular monophasic choriocarcinoma

description: A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.


name: congenital axonal neuropathy with encephalopathy

description: A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.


mycosis fungoides, domestic cat

description: Mycosis fungoides that occurs in domestic cat.


methamphetamine-induced psychosis

description: Abnormal mental state resulting from an abuse of methamphetamine


name: developmental and epileptic encephalopathy, 27

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


disease related to transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.


name: autosomal dominant nonsyndromic hearing loss 23

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.


description: X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.


name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

description: A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.


epithelioid trophoblastic tumor

description: An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.


Alkhurma hemorrhagic fever

description: A disease caused by infection with Alkhumra hemorrhagic fever virus.


B-cell acute lymphoblastic leukemia

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


acquired adult-onset immunodeficiency

description: A acquired immunodeficiency that occurs in an adult.


name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features


autoimmune retinopathy

description: An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


name: COG1-congenital disorder of glycosylation

description: COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.


parkinsonism with polyneuropathy

description: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial.


name: immunodeficiency 106, susceptibility to viral infections


name: spastic tetraplegia and axial hypotonia, progressive


name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


ectothrix infectious disease

description: A dermatophyte infection of the hair that infects the hair surface.


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

description: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.


benign dermal neurilemmoma

description: A benign schwannoma occurring in the skin.


hereditary retinoblastoma

description: An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


name: camptodactyly syndrome, Guadalajara type 2

description: Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.


name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.


Charcot-Marie-Tooth disease type 4G

description: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


name: leukoencephalopathy, hereditary diffuse, with spheroids 2


systemic polyarteritis nodosa

description: Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.


name: congenital anomaly of the inferior vena cava


name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


Charcot-Marie-Tooth disease type 2D

description: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


description: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


name: cardiac septal defects with coarctation of the aorta


hereditary spastic paraplegia 56

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.


name: intellectual disability, autosomal dominant 48


Alexander disease type II

description: Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.


loose anagen syndrome

description: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


retinitis pigmentosa 31

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


Sunflower syndrome

description: A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.


name: congenital cystic eye multiple ocular and intracranial anomalies


name: developmental and epileptic encephalopathy, 52


secondary hypertension

description: High blood pressure caused by an underlying medical condition.


congenital myasthenic syndrome 3B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.


hydatidiform mole, recurrent, 2

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


name: subepithelial mucinous corneal dystrophy

description: Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.


name: dystonia 37, early-onset, with striatal lesions


cleft palate, chicken

description: Cleft palate that occurs in chicken.


Charcot-Marie-Tooth disease type 4C

description: Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.


craniosynostosis 2

description: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


neoplasm of major salivary gland

description: A neoplasm (disease) that involves the major salivary gland.


name: developmental and epileptic encephalopathy, 30

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


name: hypogonadotropic hypogonadism 5 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.


name: hypogonadotropic hypogonadism 18 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


neonatal thrombocytopenia

description: A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


name: Zellweger-like syndrome without peroxisomal anomalies

description: An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.


familial partial epilepsy

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


canine cutaneous t-cell lymphoma

description: Cutaneous T-cell lymphoma occurring in a dog.


premature ovarian failure 6

description: Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.


name: micromelic bone dysplasia with cloverleaf skull


name: megalencephalic leukoencephalopathy with subcortical cysts

description: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.


urinary bladder cancer

description: A primary or metastatic malignant neoplasm involving the bladder.


3MC syndrome 1

description: Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.


name: Charcot-Marie-Tooth disease dominant intermediate D

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.


juvenile nephropathic cystinosis

description: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


name: neonatal urinary tract infectious disease


MOMO syndrome

description: MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.


name: symbrachydactyly of hand and foot, unilateral


name: familial intestinal malrotation-facial anomalies syndrome


distal monosomy 19p13.3

description: Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).


congenital structural myopathy

description: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


Bangstad syndrome

description: Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.


halo nevus

description: A benign melanocytic nevus with a halo appearance.


name: autosomal dominant nonsyndromic hearing loss 40

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


name: lymphoplasmacytic lymphoma without IgM production


X-linked cone-rod dystrophy

description: X-linked form of cone-rod dystrophy.


name: short stature-advanced bone age-early-onset osteoarthritis syndrome


inverted follicular keratosis

description: Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.


inclusion conjunctivitis

description: Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.


name: respiratory infections, recurrent, and failure to thrive with or without diarrhea


name: alacrima, congenital, autosomal dominant


congenital panfollicular nevus

description: Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.


pontocerebellar hypoplasia type 1

description: Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.


name: electroencephalographic peculiarity: fronto-precentral beta wave groups


name: anophthalmia esophageal atresia cryptorchidism

description: A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: trimethylaminuria (fishy taint), chicken

description: Trimethylaminuria (fishy taint) that occurs in chicken.


name: congenital pulmonary airway malformation type 3


cholesterol metabolism disease

description: A disease that has its basis in the disruption of cholesterol metabolic process.


name: calcific aortic disease with immunologic abnormalities, familial


name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy


atrioventricular septal defect 5

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


name: macrocephaly, acquired, with impaired intellectual development


anterior segment dysgenesis 3

description: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

description: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.


name: glutathione transferase activity toward trans-stilbene oxide


name: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

description: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


name: maternal uniparental disomy of chromosome 2

description: Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


giant cell reparative granuloma

description: A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


name: microcephaly, epilepsy, and diabetes syndrome 2


Dressler syndrome

description: A pericarditis characterized by inflammation, occurring after injury, located in pericardium.


holoprosencephaly 3

description: Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.


name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

description: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


pheochromocytoma, domestic cat

description: Pheochromocytoma that occurs in domestic cat.


name: neurological muscular channelopathy due to a genetic ryanodine receptor defect


exudative vitreoretinopathy 1

description: An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.


name: familial encephalopathy with neuroserpin inclusion bodies


verbal auditory agnosia

description: An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.


microphthalmia, syndromic 12

description: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


name: autosomal dominant striatal neurodegeneration type 1

description: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


PRPS1 deficiency disorder

description: A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.


pleomorphic lipoma

description: A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.


rubella

description: A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.


name: branchial myoclonus with spastic paraparesis and cerebellar ataxia


uterine ligament adenosarcoma

description: An extremely rare adenosarcoma that arises from the uterine ligament.


asphyxiating thoracic dystrophy 4

description: An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.


name: cardiomelic syndrome stratton Koehler type


name: microcephalic osteodysplastic primordial dwarfism, type 3


name: autosomal dominant hypohidrotic ectodermal dysplasia

description: Autosomal dominant form of hypohidrotic ectodermal dysplasia.


name: maternal uniparental disomy of chromosome 21


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


intellectual disability, X-linked 105

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.


name: Hao-Fountain syndrome due to USP7 mutation


Bartonellaceae infectious disease

description: Infections with bacteria of the family bartonellaceae.


name: medullomyoblastoma with myogenic differentiation

description: A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.


name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome


name: partial deletion of the short arm of chromosome 5


name: osteogenesis imperfecta and a reduction of bone mineral density.

description: A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


vascular neoplasm

description: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


name: partial duplication of the long arm of chromosome 22


DOORS syndrome

description: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


RCBTB1-related retinopathy

description: An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.


name: agammaglobulinemia 9, autosomal recessive

description: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.


Gaucher disease perinatal lethal

description: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).


name: craniosynostosis exostoses nevus epibulbar dermoid


name: autism spectrum disorder - epilepsy - arthrogryposis syndrome

description: SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).


name: hypotaurinemic retinal degeneration and cardiomyopathy


branchiooculofacial syndrome

description: Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.


name: congenital generalized lipodystrophy type 4

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.


name: autoinflammatory syndrome, familial, Behcet-like 1


name: Charcot-Marie-Tooth disease dominant intermediate F

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.


acute myeloid leukemia, t(v;11q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)


familial cystic renal disease

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


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4

description: An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.


benign mesothelioma

description: A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.


name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


familial multiple lipomatosis

description: Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.


inborn disorder of proline metabolism

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


name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization


14q11.2 microduplication syndrome

description: 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.


Togaviridae infectious disease

description: Virus diseases caused by the togaviridae.


name: partial trisomy/tetrasomy of the short arm of chromosome 5


name: night blindness, congenital stationary, type1i


nodular non-suppurative panniculitis

description: Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


autoimmune atherosclerosis

description: An autoimmune form of atherosclerosis.


chromosome 1q21.1 deletion syndrome

description: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


amelanotic skin melanoma

description: A amelanotic melanoma that involves the zone of skin.


autism spectrum disorder, zebra finch

description: Autism spectrum disorder that occurs in zebra finch.


name: immune system disorder, non-human animal

description: Immune system disorder that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 83


name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia

description: A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.


name: agammaglobulinemia 4, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.


name: metabolic myopathy due to lactate transporter defect

description: Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.


tremor, hereditary essential, 1

description: Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.


name: colorectal cancer, susceptibility to, 12

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.


name: congenital muscular dystrophy with cataracts and intellectual disability

description: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


MEHMO syndrome

description: MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.


congenital myotonic dystrophy

description: Myotonic dystrophy that is present at birth.


name: heterotaxy, visceral, 11, autosomal, with male infertility


name: mosaic genome-wide paternal uniparental disomy


description: A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.


name: spastic paraplegia 85, autosomal recessive


lower respiratory tract disorder

description: A disease involving the lower respiratory tract.


mosaic trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.


glycogen storage disease XV

description: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


Dengue hemorrhagic fever

description: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


cutaneous leukocytoclastic angiitis

description: Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.


isolated foveal hypoplasia

description: A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.


description: Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.


hypercholanemia, familial 1

description: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


Axenfeld-Rieger syndrome type 2

description: An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.


name: acute myeloid leukemia, KIT gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)


anterior segment dysgenesis 4

description: Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.


name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

description: A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.


name: extralobar congenital pulmonary sequestration


name: cone dystrophy, X-linked, with tapetal-like sheen


name: lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis


porphyrin metabolism disease

description: A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome

description: Autosomal dominant form of KID syndrome.


name: fibrosis of extraocular muscles, congenital, with synergistic divergence


ectopic thymus

description: A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.


auriculocondylar syndrome 1

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

description: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).


childhood leukemia

description: An acute or chronic leukemia that occurs during childhood.


description: This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.


familial hyperlipidemia

description: An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.


name: atypical hemolytic-uremic syndrome with B factor anomaly


Coffin-Siris syndrome 1

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.


HELIOS deficiency

description: A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.


orbit neoplasm

description: A benign or malignant neoplasm that affects the orbit.


name: multiple epiphyseal dysplasia due to collagen 9 anomaly

description: Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.


focal segmental glomerulosclerosis 2

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.


description: Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)


inborn disorder of ketolysis

description: An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.


digenic alpha thalassemia spectrum

description: An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.


typhus

description: A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.


bilateral meningioma of optic nerve

description: Meningiomas that affects both optic nerves.


autosomal recessive osteopetrosis 2

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.


congenital eyelid retraction

description: Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.


familial nasal acilia

description: Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.


name: mixed endometrial stromal and smooth muscle tumor

description: A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.


cellular leiomyoma

description: A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


Grant syndrome

description: Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.


name: auditory neuropathy-optic atrophy syndrome


name: disorder of fatty acid and ketone body metabolism


malignant conjunctival melanoma

description: A malignant melanoma within the conjunctiva of the eye.


refractory cytopenia of childhood

description: The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.


name: familial severe combined immunodeficiency


ulcer of lower limbs

description: Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.


primary orthostatic tremor

description: Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.


Thomas syndrome

description: Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.


protein-deficiency anemia

description: Anemia associated with inadequate protein intake.


hereditary neuromuscular disease

description: A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.


Joubert syndrome 14

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.


malignant urinary system neoplasm

description: A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.


name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


name: mitochondrial intermembrane space protein Tim12, yeast, homolog of


name: congenital disorder of glycosylation, type IIr


name: idiopathic macular telangiectasia type 1

description: A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.


acquired secondary polycythemia

description: An instance of secondary polycythemia that is acquired during the lifetime of the individual.


myoclonus, familial

description: A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.


description: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.


pinnae fistula or cyst

description: Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.


name: isolated growth hormone deficiency type II


endocrine gland neoplasm

description: A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


name: Erysipelothrix rhusiopathiae infectious disease

description: A disease caused by infection with Erysipelothrix rhusiopathiae.


ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


name: muscular dystrophy, progressive Pectorodorsal


description: A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


Peptostreptococcus infectious disease

description: A disease caused by infection with Peptostreptococcus.


opportunistic systemic mycosis

description: A mycosis that arises from infection in an immunologically compromised host and is systemic.


Coffin-Siris syndrome 5

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


benign neoplasm of nasal cavity

description: A benign neoplasm that involves the nasal cavity.


pseudotyphus of California

description: Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.


name: autosomal recessive nonsyndromic hearing loss 46

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


hyper-IgM syndrome type 5

description: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


moderately severe hemophilia B

description: Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


chromosome 6pter-p24 deletion syndrome

description: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


PANDAS

description: PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.


immunodeficiency 102

description: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


name: tumoral calcinosis, hyperphosphatemic, familial, 3


immunodeficiency 88

description: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


non-verbal learning disability

description: A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).


spondylocostal dysostosis

description: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


name: intellectual developmental disorder, X-linked 108


name: premalignant hematological system disease

description: A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.


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


name: light and heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


name: CACNA1A-related complex neurodevelopmental disorder

description: A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


name: agammaglobulinemia 8, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


X-linked endothelial corneal dystrophy

description: X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.


eye lymphoma

description: A lymphoma that involves the eye.


Prader-Willi-like syndrome

description: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.


Alzheimer disease 14

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


patterned macular dystrophy

description: A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.


name: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


otopalatodigital syndrome

description: A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


retinitis pigmentosa 24

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.


Jalili syndrome

description: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).


name: spastic paraplegia 87, autosomal recessive


name: panniculitis and localized lipodystrophy


longitudinal vaginal septum

description: A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


name: paternal 20q13.2q13.3 microdeletion syndrome

description: Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.


name: isolated focal cortical dysplasia type IIa


isolated arhinencephaly

description: Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.


dysraphism with stalk

description: A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.


nephrotic syndrome, type 10

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


ichthyosis, annular epidermolytic 1

description: Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


infantile-onset epilepsy

description: Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.


premenopausal osteoporosis

description: Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


salmonella discitis

description: Discitis caused by infection with Salmonella.


Cryoglobulinemic vasculitis

description: Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


fetal trimethadione syndrome

description: Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.


name: glycerol kinase deficiency, juvenile form

description: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


chronic laryngitis

description: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.


name: Leber-like hereditary optic neuropathy, autosomal recessive 2


autoimmune hemolytic anemia, cold type

description: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


T cell and NK cell immunodeficiency

description: A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


name: contractures, pterygia, and variable skeletal fusions syndrome 1B


Charcot-Marie-Tooth disease type 1F

description: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


vascular occlusion disorder

description: A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.


idiopathic localized lipodystrophy

description: Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).


dermatosis papulosa nigra

description: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.


cutaneous fibrous histiocytoma

description: A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.


name: hypopigmentation, organomegaly, and delayed myelination and development


autoimmune bullous skin disease

description: An autoimmune disease characterized by blisters on the skin.


subglottis neoplasm

description: A benign or malignant neoplasm that affects the subglottic area of the larynx.


hallucinogen dependence

description: A drug dependence for a hallucinogenic substance.


pulp degeneration

description: Deterioration of the normal pulp tissue.


name: demyelinating hereditary motor and sensory neuropathy


name: severe combined immunodeficiency due to LAT deficiency


name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


description: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.


name: spondyloepimetaphyseal dysplasia, PAPSS2 type

description: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


adult cerebellar neoplasm

description: A cerebellar neoplasm that occurs in an adult.


conus spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.


name: spinocerebellar ataxia, autosomal recessive 32


name: familial median cleft of the upper and lower lips

description: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

description: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.


name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


name: mitochondrial complex 1 deficiency, nuclear type 30


Cornelia de Lange syndrome 1

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.


deafness dystonia syndrome

description: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


LAMA5-related multisystemic syndrome

description: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis


dementia pugilistica

description: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


factor XI deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.


name: cancer, familial, with in vitro Radioresistance


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


panic disorder with agoraphobia

description: A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.


ring chromosome 10

description: Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


microcephaly and chorioretinopathy 3

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


name: intellectual disability, autosomal dominant 43

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


primary oculocerebral lymphoma

description: Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.


Strongylida infectious disease

description: Infections with nematodes of the order strongylida.


intermittent explosive disorder

description: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


name: X-linked syndromic intellectual disability

description: A syndromic intellectual disability with an X-linked mode of inheritance.


complement component 7 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


AH amyloidosis

description: A rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.


nutritional disorder, non-human animal

description: Nutritional disorder that occurs in non-human animals.


name: microcephaly 5, primary, autosomal recessive

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


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


childhood acute myeloid leukemia

description: Acute myeloid leukemia occurring in childhood.


name: viral infectious disease, non-human animal

description: Viral infectious disease that occurs in non-human animals.


scleredema adultorum

description: A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


name: autoinflammatory disease, systemic, with vasculitis


osteogenesis imperfecta

description: Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.


Kerion celsi

description: A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.


name: combined immunodeficiency due to POLE2 deficiency

description: Any combined immunodeficiency due to a deficiency in the POLE2 gene.


name: facial clefting corpus callosum agenesis


Oguchi disease-1

description: Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.


name: primary focal segmental glomerulosclerosis

description: A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


paraquat poisoning

description: Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.


name: combined oxidative phosphorylation defect type 21

description: Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


familial periodic paralysis

description: A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.


polydactyly, chicken

description: Polydactyly that occurs in chicken.


canine oral melanoma

description: A melanoma that affects the lip and/or oral cavity of a dog.


name: mitochondrial complex 4 deficiency, nuclear type 12


brachydactyly type E

description: Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


name: progressive deafness with stapes fixation

description: Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


gonococcal urethritis

description: Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


2p13.2 microdeletion syndrome

description: 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.


Baller-Gerold syndrome

description: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


baker Vinters syndrome

description: A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: gaze palsy, familial horizontal, with progressive scoliosis 1


monieziasis

description: Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

description: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


benign neoplasm of soft palate

description: A benign neoplasm that involves the soft palate.


name: neuropathy, hereditary motor and sensory, type 6B

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


developmental disorder of mental health

description: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


name: acute myeloid leukemia with t(9;11)(p22;q23)


name: congenital generalized lipodystrophy type 3

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

description: A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

description: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

description: A disease involving the vitreous humor.


intellectual disability, X-linked 63

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


name: intellectual developmental disorder with autistic features and language delay, with or without seizures


orofacial cleft 10

description: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

description: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


inborn serine deficiency

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


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

description: A neoplasm (disease) that involves the uterine cervix.


name: autosomal recessive nonsyndromic hearing loss 63

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


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


Waardenburg syndrome type 3

description: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.


swine erysipelas

description: An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.


auditory system benign neoplasm

description: A sensory system benign neoplasm that is located in the auditory system.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


name: corneal dystrophy pigmentary anomaly malabsorption


name: neuronopathy, distal hereditary motor, type 7B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

description: An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


orbit sarcoma

description: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


subaortic course of innominate vein

description: Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


name: intellectual developmental disorder, autosomal recessive 71


name: holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

description: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.


description: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


name: mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

description: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


name: childhood-onset benign chorea with striatal involvement