collagen 6-related myopathy

description: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


thyroiditis, non-human animal

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

description: Thyroiditis that occurs in non-human animals.


name: uterine corpus mixed epithelial and mesenchymal neoplasm

description: A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.


acute rheumatic heart disease

description: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).


name: nemaline myopathy 5B, autosomal recessive, childhood-onset


cleft palate, horse

description: Cleft palate that occurs in horse.


pyruvate kinase deficiency of red cells

description: Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.


adult intestinal botulism

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


name: amyotrophic lateral sclerosis 27, juvenile


name: gastrointestinal defects and immunodeficiency syndrome 2

description: A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.


tremor, hereditary essential, 5

description: Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.


Curry-Jones syndrome

description: Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.


pigment dispersion syndrome

description: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.


uremic neuropathy

description: Neuropathy resulting from uremia.


pancreatic cancer, susceptibility to, 1

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.


Balo concentric sclerosis

description: Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.


description: X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.


Seckel syndrome 9

description: Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.


name: ocular albinism with late-onset sensorineural deafness

description: Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.


name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

description: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.


osteoporosis, horse

description: Osteoporosis that occurs in horse.


name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis


EZB-MYC+ diffuse large B-cell lymphoma

description: An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.


description: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


Neu-Laxova syndrome 1

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.


undifferentiated round cell sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.


name: linear skin defects with multiple congenital anomalies 1

description: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.


name: low density lipoprotein cholesterol, mild elevation of


polyvalvular heart disease syndrome

description: Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.


name: congenital stationary night blindness 2A

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.


name: polyneuropathy in collagen vascular disease


name: oocyte/zygote/embryo maturation arrest 20


age related macular degeneration 7

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.


name: conductive deafness-malformed external ear syndrome


cutaneous candidiasis

description: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)


hypomyelinating leukodystrophy 2

description: Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.


trisomy

description: A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.


smooth muscle cancer

description: A malignant neoplasm arising from smooth muscle.


name: Pierre Robin syndrome-faciodigital anomaly syndrome

description: This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.


name: conotruncal heart malformations, non-human animal

description: Conotruncal heart malformations that occurs in non-human animals.


name: hereditary thrombocytosis with transverse limb defect

description: Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.


name: chorea, remitting, with nystagmus and cataract


Prata-Liberal-Goncalves syndrome

description: Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.


retinitis pigmentosa 14

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.


osteonecrosis of the jaw

description: An area of necrotic bone in the mandible or maxilla.


hereditary thermosensitive neuropathy

description: Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.


description: Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.


benign neoplasm of cornea

description: A benign neoplasm that involves the cornea.


immunodeficiency 33

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


name: systemic lupus erythematosus, non-human animal

description: Systemic lupus erythematosus that occurs in non-human animals.


name: vitreoretinopathy with phalangeal epiphyseal dysplasia


feline melanoma

description: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.


name: primary non-gestational choriocarcinoma of ovary

description: Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.


description: Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.


name: hereditary hypophosphatemic rickets with hypercalciuria

description: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.


holoprosencephaly 8

description: A holoprosencephaly that has material basis in variation in the chromosome region 14q13.


hyperlipoproteinemia type 3

description: Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.


description: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.


Carey-Fineman-Ziter syndrome 1

description: A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.


name: theca steroid-producing cell malignant tumor of ovary, not further specified

description: Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.


primary ciliary dyskinesia 28

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.


epilepsy, familial adult myoclonic, 2

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.


congenital hematological disorder

description: A disorder of the blood that is present at birth.


prolactin producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


name: transient bullous dermolysis of the newborn

description: Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.


congenital hydrocephalus

description: Hydrocephalus that is present at birth.


corneal dystrophy, Fuchs endothelial, 8

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.


chronic canaliculitis

description: Chronic form of actinomycosis.


type 2 collagenopathy

description: Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.


bullous systemic lupus erythematosus

description: A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.


diabetic encephalopathy

description: A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.


name: isolated ankyloblepharon filiforme adnatum

description: Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.


name: DeSanto-Shinawi syndrome due to WAC point mutation


isolated microphthalmia 4

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.


name: multiple mitochondrial dysfunctions syndrome 6


Oguchi disease

description: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.


cone-rod dystrophy 20

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.


spermatogenic failure 10

description: Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.


name: B4GALT1-congenital disorder of glycosylation

description: B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.


thanatophoric dysplasia type 2

description: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.


name: thalamic degeneration, symmetric infantile


name: craniostenosis with congenital heart disease intellectual disability


mucolipidosis type IV

description: A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.


name: mitochondrial complex 1 deficiency, nuclear type 3


name: respiratory underresponsiveness to hypoxia and hypercapnia


ectodermal dysplasia 7, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.


Lemierre syndrome

description: Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.


cervical disk degenerative disorder

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


name: ichthyosis, split hairs, and amino aciduria


sarcoglycanopathy

description: Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.


name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


2-hydroxyglutaric aciduria

description: 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


sella turcica neoplasm

description: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


testicular dysgenesis syndrome

description: A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.


name: neonatal encephalopathy with non-epileptic myoclonus

description: A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.


name: non-saccular limited dorsal myeloschisis

description: A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.


name: autosomal recessive nonsyndromic congenital nuclear cataract


name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


partial septate uterus

description: Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.


premenstrual tension

description: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.


Duane-radial ray syndrome

description: A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.


bullous pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.


Waardenburg syndrome type 2C

description: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.


posteroinferior myocardial infarction

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


name: digital anomalies-intellectual disability-short stature syndrome


name: atypical childhood epilepsy with centrotemporal spikes

description: A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.


Ciliophora infectious disease

description: Infections with protozoa of the phylum ciliophora.


name: endocardial fibroelastosis, domestic cat

description: Endocardial fibroelastosis that occurs in domestic cat.


name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

description: A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.


ring dermoid of cornea

description: Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.


name: congenital heart defects, multiple types, 5


name: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

description: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.


episodic ataxia type 6

description: Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.


name: VACTERL association, X-linked, with or without hydrocephalus


legionellosis

description: Any disease caused by Legionella bacteria.


name: mitochondrial complex 1 deficiency, nuclear type 5


name: deafness, unilateral, with delayed endolymphatic hydrops


cleidorhizomelic syndrome

description: Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.


name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.


congenital hypothyroidism, horse

description: Congenital hypothyroidism that occurs in horse.


name: qualitative or quantitative defects of beta-sarcoglycan


juvenile chronic polyarthritis

description: A group of conditions used to describe polyarthritis occurring in children.


name: overgrowth syndrome with 2q37 translocation

description: A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.


primary ciliary dyskinesia 14

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.


seminal vesicle chronic gonorrhea

description: Chronic form of gonococcal seminal vesiculitis.


name: combined immunodeficiency due to STIM1 deficiency

description: Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.


name: diabetes mellitus, long-tailed chinchilla

description: Diabetes mellitus that occurs in long-tailed chinchilla.


non-autoimmune hemolytic anemia

description: Hemolytic anemia that is not mediated by immune mechanisms.


name: Tay-Sachs disease, B variant, adult form


Emanuel syndrome

description: Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.


Chagas disease

description: A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.


description: 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.


tuberous sclerosis

description: Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.


age related macular degeneration 9

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.


name: hyperuricemic nephropathy, familial juvenile type 3


haemophilus infectious disease

description: Infections with bacteria of the genus haemophilus.


third cranial nerve disorder

description: A disease involving the oculomotor nerve.


name: melanoma and neural system tumor syndrome

description: Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).


pulpitis

description: Inflammation of the dental pulp.


melorheostosis

description: Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5


T-cell leukemia

description: A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.


clear cell sarcoma of kidney

description: A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.


name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly


name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


Flinders island spotted fever

description: A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.


cardiomyopathy, domestic cat

description: Cardiomyopathy that occurs in domestic cat.


name: epilepsy, photogenic, with spastic diplegia and intellectual disability


toxocariasis

description: A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.


name: peroxisome biogenesis disorder 3A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


name: lissencephaly type 1 due to doublecortin gene mutation

description: Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.


choanal atresia, llama

description: Choanal atresia that occurs in llama.


adult extraskeletal osteosarcoma

description: An osteosarcoma arising from the soft tissue, and occurring in adults.


uterine cancer

description: Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.


spinocerebellar ataxia type 14

description: Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.


name: deafness-intellectual disability, Martin-Probst type syndrome

description: A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.


name: lissencephaly type 3-familial fetal akinesia sequence syndrome

description: Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.


name: holoprosencephaly, recurrent infections, and monocytosis


mild hemophilia B

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


osteogenesis imperfecta type 10

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.


severe cutaneous adverse reaction

description: A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).


name: microcephaly with lissencephaly and/or hydranencephaly

description: A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.


hereditary mucosal leukokeratosis

description: White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.


epiglottitis

description: Inflammation of the epiglottis.


cataract 11 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.


brachydactyly, rabbit

description: Brachydactyly that occurs in rabbit.


name: striatonigral degeneration, infantile, mitochondrial


new-onset refractory status epilepticus

description: New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.


Alzheimer disease 4

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.


description: Paraneoplastic syndrome that involves the digestive system.


African swine fever

description: A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).


pseudoxanthoma elasticum, forme fruste

description: An autosomal dominant form of PXE.


name: cleft palate-stapes fixation-oligodontia syndrome

description: Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.


name: autosomal dominant nonsyndromic hearing loss 69

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


name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia


intermediate nemaline myopathy

description: Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.


Ochoa syndrome

description: Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.


Alzheimer disease 13

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.


description: A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.


labia minora cancer

description: A malignant neoplasm that affects the labia minora.


Pauci-immune glomerulonephritis

description: Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.


lymphangitis

description: Inflammation of the lymphatic vessels.


oculopharyngeal muscular dystrophy

description: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.


name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


aJCC grade 1 sarcoma

description: Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)


hypospadias, non-human animal

description: Hypospadias that occurs in non-human animals.


poliomyelitis

description: An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.


name: syndromic complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.


hyper-IgM syndrome type 4

description: A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.


name: monomorphic epitheliotropic intestinal T-cell lymphoma


developmental disability

description: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)


severe ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.


Robinow-like syndrome

description: Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.


name: autosomal recessive distal renal tubular acidosis

description: Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.


cerebral cortex disorder

description: A disease or disorder that involves the cerebral cortex.


name: isolated congenital auditory ossicle malformation

description: Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.


canine lymphoma

description: A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.


seborrheic infantile dermatitis

description: Excessive shedding of dry scaly material from the scalp in humans.


neuropathy, hereditary sensory, type 2C

description: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.


name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities


familial goiter, goat

description: Familial goiter that occurs in goat.


name: congenital heart defect-round face-developmental delay syndrome

description: Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.


name: acute inferolateral myocardial infarction


name: autosomal dominant nonsyndromic hearing loss 4B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.


name: distal 7q11.23 microduplication syndrome

description: Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.


dermochondrocorneal dystrophy

description: Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.


hypereosinophilic syndrome, horse

description: Hypereosinophilic syndrome that occurs in horse.


name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


name: cleft lip and/or palate with mucous cysts of lower


nail-patella-like renal disease

description: A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.


name: cerebroretinal microangiopathy with calcifications and cysts 1

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.


ideomotor apraxia

description: A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)


name: urinary system disorder, non-human animal

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


description: Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.


name: autosomal dominant nocturnal frontal lobe epilepsy

description: A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


name: intellectual developmental disorder with neuropsychiatric features

description: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).


PAPASH syndrome

description: A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.


name: breast cancer, familial, susceptibility to, 2


preaxial polydactyly of fingers

description: Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.


electroclinical syndrome

description: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.


name: familial hyperreninemic hypoaldosteronism type 2


tabes dorsalis

description: A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.


myopathy, tubular aggregate, 1

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.


name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


description: Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.


name: mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


mouth disorder

description: A disease involving the mouth.


TOPORS-related retinopathy

description: Any retinopathy caused by a variant in the TOPORS gene.


central nervous system tuberculosis

description: A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.


canine nephroblastoma

description: A nephroblastoma occurring in a dog.


name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa


Sorsby fundus dystrophy

description: A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.


submandibular gland neoplasm

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


mirror movements 3

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.


name: twin-reversed arterial perfusion sequence


name: acute generalized exanthematous pustulosis

description: A widespread acute rash characterized by fever and multiple small pustules on a reddish background.


name: pronation-supination of the forearm, impairment of


laryngeal leiomyoma

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


mosaic trisomy 2

description: Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.


herpetic vulvovaginitis

description: Infection of the vulva and the vagina caused by herpes simplex virus.


description: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.


description: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.


name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia


description: Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.


description: Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.


name: epilepsy, early-onset, 3, with or without developmental delay


heart conduction disease

description: A disease that has its basis in the disruption of the heart's electrical conduction system.


mosaic trisomy 10

description: Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.


name: congenital heart defects, multiple types, 9


complex regional pain syndrome

description: Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.


name: Ehlers-Danlos syndrome, periodontal type 1


retinal detachment, dog

description: Retinal detachment that occurs in dog.


Ehlers-Danlos syndrome, classic type

description: Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.


description: Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.


xanthinuria type II

description: Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.


cerebral arteritis

description: An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.


name: hypouricemia, hypercalcinuria, and decreased bone density


name: polydactyly of a biphalangeal thumb, bilateral


typical nemaline myopathy

description: Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.


spondylosis

description: A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.


cutis laxa, non-human animal

description: Cutis laxa that occurs in non-human animals.


name: distal myopathy with posterior leg and anterior hand involvement

description: Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.


myositis fibrosa

description: A form of myositis that is characterized by the formation of connective tissue within the muscle.


cerebellar vermis medulloblastoma

description: A medulloblastoma arising from the vermis of the cerebellum.


cerebral toxoplasmosis

description: Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)


nonobstructive coronary artery disease

description: A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.


name: thyroid hormone resistance, generalized, autosomal recessive

description: A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.


name: developmental delay with short stature, dysmorphic facial features, and sparse hair


name: mitochondrial complex I deficiency, nuclear type 39


atypical hypotonia-cystinuria syndrome

description: A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).


microcystic meningioma

description: A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.


name: autosomal recessive degenerative and progressive cerebellar ataxia


name: complex neurodevelopmental disorder with or without congenital anomalies

description: A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.


name: drug-induced autoimmune hemolytic anemia

description: Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.


name: syndrome caused by partial chromosomal duplication

description: A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.


cryptorchidism, dog

description: Cryptorchidism that occurs in dog.


late-onset isolated ACTH deficiency

description: Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.


name: mitochondrial pyruvate carrier deficiency

description: An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.


ciguatera fish poisoning

description: Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.


Fanconi renotubular syndrome 2

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.


name: peroxisome biogenesis disorder, complementation group 2


retained medullary cord

description: A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.


name: absent tibia-polydactyly-arachnoid cyst syndrome

description: Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.


osteocraniostenosis

description: Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.


scoliosis, dog

description: Scoliosis that occurs in dog.


name: portal vein, cavernous transformation of


name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

description: Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.


name: glycogen storage disease due to lactate dehydrogenase deficiency


name: inherited lipoic acid biosynthesis defect

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


mal de Debarquement

description: Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.


name: intellectual developmental disorder, autosomal dominant 68


name: autosomal recessive metabolic cerebellar ataxia


Cooper-Jabs syndrome

description: Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.


name: pseudoxanthomatous diffuse cutaneous mastocytosis

description: Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.


peripheral epithelioid sarcoma

description: An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.


acute dacryocystitis

description: Acute form of dacryocystitis.


retinitis pigmentosa 63

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.


hereditary spastic paraplegia 28

description: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.


name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly


Laubry-Pezzi syndrome

description: Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.


myofascial pain syndrome

description: Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.


Klebsiella infectious disease

description: Infections with bacteria of the genus KLEBSIELLA.


cold agglutinin disease

description: Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).


hand, foot and mouth disease

description: A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.


name: hyper-IgE recurrent infection syndrome 3, autosomal recessive


name: blindness - scoliosis - arachnodactyly syndrome

description: This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.


polydactyly, llama

description: Polydactyly that occurs in llama.


tungiasis

description: An disease or disorder caused by infection with Tunga penetrans.


name: multiple pterygium-malignant hyperthermia syndrome

description: Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.


osteoarthritis, hand

description: Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).


description: Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.


dilated cardiomyopathy, domestic cat

description: Dilated cardiomyopathy that occurs in domestic cat.


name: autosomal dominant spastic paraplegia type 9

description: Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


name: combined oxidative phosphorylation defect type 2

description: Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.


diabetes mellitus, cattle

description: Diabetes mellitus that occurs in cattle.


name: cleft lower lip cleft lateral canthi chorioretinal


ureter tuberculosis

description: A tuberculosis that involves the ureter.


ACTH-producing pituitary gland neoplasm

description: An adenoma or carcinoma of the pituitary gland that produces corticotropin.


Brunner syndrome

description: Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.


lymphocytic choriomeningitis

description: A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)


Cogan syndrome

description: Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.


name: thumb stiffness-brachydactyly-intellectual disability syndrome

description: Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.


pericardium disorder

description: A disease involving the pericardium.


spermatogenic failure 9

description: Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.


acquired pseudoxanthoma elasticum

description: A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.


name: neurodegeneration and seizures due to copper transport defect


retinitis pigmentosa 70

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.


testicular thecoma

description: A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.


heterotaxy, visceral, 7, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.


atelosteogenesis type I

description: Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.


myxosarcoma

description: An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.


name: muscular dystrophy, limb-girdle, autosomal recessive 28


name: corneal dystrophy, punctiform and polychromatic pre-descemet


neuromyelitis optica

description: A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.


name: diffuse large B-cell lymphoma with chronic inflammation

description: Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.


septal myocardial infarction

description: A myocardial infarction (disease) that involves the cardiac septum.


name: xeroderma pigmentosum, type F/Cockayne syndrome


severe primary trimethylaminuria

description: Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.


retinitis pigmentosa 22

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.


Buschke-Ollendorff syndrome

description: Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.


name: multiple benign circumferential skin creases on limbs


cardiogenetic disease

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


Rh isoimmunization

description: The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.


Worster-Drought syndrome

description: Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.


name: thrombocytopenia with congenital dyserythropoietic anemia

description: Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.


name: developmental and epileptic encephalopathy, 75


name: complex cortical dysplasia with other brain malformations 5

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.


holoprosencephaly, horse

description: Holoprosencephaly that occurs in horse.


name: partial deletion of the long arm of chromosome 15


hereditary spherocytosis type 5

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.


benign neoplasm of oral cavity

description: A benign neoplasm that involves the oral cavity.


retinal nerve fiber layer disorder

description: A disease that involves the nerve fiber layer of retina.


name: congenital stationary night blindness 1A

description: A congenital stationary night blindness caused by variants in the X-linked NYX gene.


thymus gland disorder

description: A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.


name: microcephaly 27, primary, autosomal dominant


chronic prostatitis

description: An infectious or non-infectious chronic inflammatory process that affects the prostate gland.


name: inborn disorder of neurotransmitter metabolism and transport


familial goiter, chicken

description: Familial goiter that occurs in chicken.


sickle cell anemia

description: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.


description: An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.


Qazi Markouizos syndrome

description: Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.


name: spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome


hemoglobin E disease

description: Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.


name: acute myeloid leukemia, RUNX1 gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)


Goodman syndrome

description: Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.


pregnancy disorder

description: A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.


name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect


tumor of meninges

description: A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.


gingival hypertrophy

description: Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.


tetrasomy 9p

description: Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).


Fanconi renotubular syndrome 3

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.


3MC syndrome 3

description: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.


name: dementia/parkinsonism with non-Alzheimer amyloid plaques


name: endocardial fibroelastosis, non-human animal

description: Endocardial fibroelastosis that occurs in non-human animals.


Neu-Laxova syndrome

description: Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


name: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

description: An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.


Richards-Rundle syndrome

description: Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.


pregnancy, cornual

description: An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.


name: secretory diarrhea, myopathy, and deafness


Niemann-Pick disease

description: A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.


articular cartilage disorder

description: A disease involving the articular cartilage of joint.


name: cataract-aberrant oral frenula-growth delay syndrome

description: Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.


lupus vulgaris

description: A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.


agyria pachygyria polymicrogyria

description: Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.


name: mitochondrial complex III deficiency nuclear type 6

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.


parasitic disease, non-human animal

description: Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.


PHARC syndrome

description: Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.


digenic hemochromatosis

description: A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.


name: ectopia lentis 1, isolated, autosomal dominant

description: Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.


name: mitochondrial complex 4 deficiency, nuclear type 4


inherited isolated nail anomaly

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


giant cell tumor of soft tissue

description: A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.


iron poisoning

description: A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.


name: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies


PPP2R1A-related intellectual disability

description: Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.


name: glycosylphosphatidylinositol biosynthesis defect 17


ovarian remnant syndrome

description: Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.


periventricular nodular heterotopia 6

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.


name: myopathy with storage of glycoproteins and Glycosaminoglycans


name: adult-onset autosomal dominant demyelinating leukodystrophy

description: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.


name: hypothyroidism due to TSH receptor mutations

description: Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.


name: syndromic X-linked intellectual disability 12

description: X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.


adenoma, non-human

description: Adenoma that occurs in non-human animals.


name: neurodevelopmental disorder with absent language and variable seizures


infectious anterior uveitis

description: An infectious disease involving a pathogenic inflammatory response in the anterior uvea.


tracheal cancer

description: A malignant neoplasm involving the trachea


progressive non-fluent aphasia

description: Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.


tracheal agenesis

description: Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.


name: linear skin defects with multiple congenital anomalies

description: A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.


name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability


hereditary spastic paraplegia 54

description: A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.


Rocky mountain spotted fever

description: Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).


scalp dermatosis

description: Dermotosis of scalp


fetal akinesia deformation sequence 4

description: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.


sexual and gender identity disorders

description: A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.


Axenfeld-Rieger syndrome type 3

description: Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.


ACD-related short telomere syndrome

description: A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.


spermatogenic failure 16

description: Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.


name: horizontal gaze palsy with progressive scoliosis

description: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.


acrogeria

description: A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.


name: skeletal dysplasia, rhizomelic, with retinitis pigmentosa


pheochromocytoma-paraganglioma

description: A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.


name: pancreatitis, sclerosing cholangitis, and sicca complex