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.


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

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.


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.


holoprosencephaly 8

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


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.


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.


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.


corneal dystrophy, Fuchs endothelial, 8

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


type 2 collagenopathy

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


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


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: mitochondrial complex 1 deficiency, nuclear type 3


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.


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.


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.


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: 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: mitochondrial complex 1 deficiency, nuclear type 5


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


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.


syndromic intellectual disability

description: A intellectual disability that is part of a larger syndrome.


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).


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5


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: 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.


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.


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.


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.


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


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.


pseudoxanthoma elasticum, forme fruste

description: An autosomal dominant form of PXE.


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.


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.


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.


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.


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.


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.


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


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.


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: 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


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.


canine nephroblastoma

description: A nephroblastoma occurring in a dog.


name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa


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.


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: 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.


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


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.


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.


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: 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: 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.


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.


scoliosis, dog

description: Scoliosis that occurs in dog.


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.


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.


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).


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.


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.


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.


ureter tuberculosis

description: A tuberculosis that involves the ureter.


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.


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


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.


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.


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


name: inborn disorder of neurotransmitter metabolism and transport


familial goiter, chicken

description: Familial goiter that occurs in chicken.


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.


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.


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: endocardial fibroelastosis, non-human animal

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


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.


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.


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.


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: 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.


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.


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.


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.


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.


Desbuquois dysplasia

description: Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.


vulvar benign neoplasm

description: A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.


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

description: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.


name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


name: autosomal dominant epilepsy with auditory features

description: A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.


ovarian dysgenesis 3

description: Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.


ischemic fasciitis

description: A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.


name: intellectual developmental disorder, autosomal dominant 67


epilepsy, golden hamster

description: Epilepsy that occurs in golden hamster.


dicrocoeliasis

description: Infection with flukes of the genus Dicrocoelium.


retroperitoneal germ cell neoplasm

description: A germ cell tumor that involves the retroperitoneal space.


disorder of extraembryonic membrane

description: A disease or disorder that involves the extraembryonic membrane.


name: spondylocostal dysostosis 6, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.


name: recurrent Neisseria infections due to factor D deficiency


name: acute intermittent porphyria, domestic cat

description: Acute intermittent porphyria that occurs in domestic cat.


periocular meningioma

description: A meningioma that affects the periocular region.


atrial fibrillation, dog

description: Atrial fibrillation that occurs in dog.


white fibrous papulosis of the neck

description: White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.


name: lethal congenital contracture syndrome 11

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.


name: combined immunodeficiency due to CRAC channel dysfunction

description: A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.


distal trisomy 2p

description: Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.


name: developmental and epileptic encephalopathy 103


name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


name: congenital stationary night blindness 1E

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.


name: disorder of defective peroxisomal and mitochondrial fission

description: A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


name: bile acid CoA ligase deficiency and defective amidation

description: Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.


name: primary non-essential cutis verticis gyrata


von Voss-Cherstvoy syndrome

description: Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.


Wolff-Parkinson-White syndrome, cattle

description: Wolff-Parkinson-White syndrome that occurs in cattle.


name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.


BNAR syndrome

description: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.


name: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


cataract 3 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.


name: autosomal recessive nonsyndromic hearing loss 53

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


description: The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.


anterolateral myocardial infarction

description: Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.


description: Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.


name: cystic malformation of the posterior fossa


description: Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.


name: 46,XX disorder of sex development-skeletal anomalies syndrome


MAK-related retinopathy

description: Any retinopathy caused by variants in the MAK gene.


name: acute megakaryoblastic leukemia without down syndrome


Moyamoya disease 5

description: Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.


name: multiple mitochondrial dysfunctions syndrome 1

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


conjunctival pigmentation

description: Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.


name: mitochondrial complex 1 deficiency, nuclear type 17


Good syndrome

description: Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.


coronaviral enteritis of turkeys

description: An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.


focal facial dermal dysplasia type I

description: Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.


name: intellectual disability, autosomal recessive 42

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.


name: parasitic Ichthyosporea infectious disease

description: A disease caused by infection with Ichthyosporea.


name: melanoma, cutaneous malignant, susceptibility to, 1


name: atypical hemolytic-uremic syndrome with I factor anomaly


congenital lethal erythroderma

description: A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.


name: autoimmune disorder of cardiovascular system

description: A hypersensitivity reaction type II disease that involves the cardiovascular system.


name: fatal post-viral neurodegenerative disorder


bifid nose, autosomal recessive

description: Autosomal recessive form of bifid nose.


laryngotracheitis

description: An inflammation of both larynx and trachea.


name: auditory neuropathy, autosomal dominant 3


name: intellectual developmental disorder, X-linked 111


holoprosencephaly 7

description: Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.


spinal muscular atrophy type 0

description: A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.


name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


vibrio infectious disease

description: Infections with bacteria of the genus vibrio.


Paris-Trousseau thrombocytopenia

description: Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.


primary ciliary dyskinesia 12

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.


description: Trichostrongyloidiasis that occurs in non-human animals.


name: spondyloepiphyseal dysplasia with punctate corneal dystrophy


description: Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.


atelosteogenesis type II

description: A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.


heart defects-limb shortening syndrome

description: Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.


femur-fibula-ulna complex

description: Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.


lymph node palisaded myofibroblastoma

description: A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.


name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


non-distal trisomy 9q

description: Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.


malignant testicular Leydig cell tumor

description: A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.


name: intellectual disability, autosomal dominant 15

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.


pancreatic cancer, susceptibility to, 3

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.


name: intellectual disability, autosomal recessive 18

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.


hyperparathyroidism, transient neonatal

description: Hyperparathyroidism in an infant less than one month of age that resolves spontaneously.


name: gastroenteritis, transmissible, of swine

description: A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.


muscle-eye-brain disease

description: A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.


name: limb transversal defect-cardiac anomaly syndrome


diabetes mellitus, domestic cat

description: Diabetes mellitus that occurs in domestic cat.


name: autosomal recessive Ehlers-Danlos syndrome, vascular type

description: The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


autosomal dominant Alport syndrome

description: Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.


neonatal dacryocystitis

description: Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.


name: autosomal dominant nonsyndromic hearing loss 16

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.


name: proteasome-associated autoinflammatory syndrome 4


Seckel syndrome 6

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.


McDonough syndrome

description: A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.


name: adult familial nephronophthisis-spastic quadriparesia syndrome

description: This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.


enzootic bovine leukosis

description: A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.


name: malignant mixed epithelial stromal tumor of the kidney

description: A mixed epithelial stromal tumor of the kidney with malignant stromal features.


name: embryonal rhabdomyosarcoma, non-human animal

description: Embryonal rhabdomyosarcoma that occurs in non-human animals.


name: non-syndromic bicoronal and metopic craniosynostosis


familial sick sinus syndrome

description: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.


narcolepsy, sheep

description: Narcolepsy that occurs in sheep.


name: familial adrenal hypoplasia with absent pituitary luteinizing hormone


name: leukemia, chronic lymphocytic, susceptibility to, 1


name: immunodeficiency 72 with autoinflammation


round ligament malignant neoplasm

description: A malignant neoplasm involving the round ligament of uterus.


name: pruritic urticarial papules and plaques of pregnancy


hypercholesterolemia, familial, 1

description: An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.


name: brain malformation-congenital heart disease-postaxial polydactyly syndrome

description: Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.


eclampsia, dog

description: Eclampsia that occurs in dog.


name: acroosteolysis-keloid-like lesions-premature aging syndrome


isosporiasis

description: An intestinal infection with Isospora belli.


familial isolated hyperparathyroidism

description: A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.


tuberculous epididymitis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.


cocoon syndrome

description: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.


name: schmid metaphyseal chondrodysplasia dwarfism, non-human animal

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals.


name: autosomal recessive nonsyndromic hearing loss 21

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


name: cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


description: Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.


pemphigoid gestationis

description: A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.


name: autosomal recessive nonsyndromic hearing loss 32

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.


uterine ligament neoplasm

description: A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.


name: palmoplantar keratoderma, punctate type 1A

description: Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.


aberrant subclavian artery

description: Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..


name: familial hyperthyroidism due to mutations in TSH receptor

description: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.


tetralogy of fallot, domestic cat

description: Tetralogy of fallot that occurs in domestic cat.


mirror movements 1

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


anauxetic dysplasia

description: A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.


name: short-rib thoracic dysplasia 15 with polydactyly


complement component 4a deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.


chromosome 6 disorder

description: Chromosomal disorder in which chromosome 6 is affected.


galactosemia, kangaroo

description: Galactosemia that occurs in kangaroo.


name: autosomal dominant nonsyndromic hearing loss 50

description: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.


conotruncal heart malformations, dog

description: Conotruncal heart malformations that occurs in dog.


name: porcine postweaning multisystemic wasting syndrome

description: A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 3

description: A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.


subcutaneous tissue disorder

description: A disease involving the superficial fascia.


Adams-Oliver syndrome 4

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


primary progressive freezing gait

description: Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.


name: pyruvate carboxylase deficiency, severe neonatal type

description: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


nephronophthisis 19

description: Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.


name: pneumonia, progressive interstitial, of sheep

description: Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.


name: fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


name: 46,XX true hermaphroditism, SRY-positive


polyneuropathy-hand defect syndrome

description: Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.


schizophrenia 5

description: A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


embryonal rhabdomyosarcoma, cattle

description: Embryonal rhabdomyosarcoma that occurs in cattle.


name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1

description: A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).


intellectual disability, X-linked 41

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.


isolated delta-storage pool disease

description: Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.


description: Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.


osteochondritis dissecans, dog

description: Osteochondritis dissecans that occurs in dog.


mild pre-eclampsia

description: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.


cerebellar degeneration, chicken

description: Cerebellar degeneration that occurs in chicken.


Achilles bursitis

description: An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.


6q terminal deletion syndrome

description: 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.


name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

description: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.


ventricular septal defect, alpaca

description: Ventricular septal defect that occurs in alpaca.


name: microcephaly with or without short stature

description: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.


methamphetamine dependence

description: A drug dependence that is a psychological dependency on the regular use of methamphetamine.


chorea, benign familial

description: Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


uncombable hair syndrome 3

description: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.


inferolateral myocardial infarct

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


parasitic eye infection

description: Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.


name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.


name: TH-deficient infantile parkinsonism and motor delay

description: A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).


name: neurodevelopmental disorder with poor language and loss of hand skills


glioependymal/ependymal cyst

description: Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).


central nervous system leiomyoma

description: A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.


dependent personality disorder

description: A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.