hyperphalangy

description: Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.


name: glycosylphosphatidylinositol biosynthesis defect 16

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


name: microvillus inclusion disease, non-human animal

description: Microvillus inclusion disease that occurs in non-human animals.


gonococcal prostatitis

description: An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.


name: neuroaxonal dystrophy renal tubular acidosis


fibrochondrogenesis 1

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


ectropion, dog

description: Ectropion that occurs in dog.


name: autosomal recessive congenital ichthyosis 8

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.


intellectual disability, X-linked 100

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.


mosaic trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.


autosomal recessive brachyolmia

description: Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.


name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


subglottis cancer

description: A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.


benign endocrine neoplasm

description: A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.


name: spondyloepimetaphyseal dysplasia with joint laxity

description: A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.


name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


megacolon, non-human animal

description: Megacolon that occurs in non-human animals.


name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


hypotrichosis 5

description: A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.


name: familial hemophagocytic lymphohistiocytosis 5

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.


name: benign prostatic hyperplasia, non-human animal

description: Benign prostatic hyperplasia that occurs in non-human animals.


name: peroxisome biogenesis disorder due to PEX1 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


cataract-ataxia-deafness syndrome

description: Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.


osteochondrosis, sheep

description: Osteochondrosis that occurs in sheep.


retinal degeneration, cattle

description: Retinal degeneration that occurs in cattle.


name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

description: This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.


retinitis pigmentosa 57

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.


hyperostosis, non-human animal

description: Hyperostosis that occurs in non-human animals.


hemochromatosis type 5

description: Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.


benign PEComa

description: A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.


retroperitoneal lymphoma

description: A lymphoma that involves the retroperitoneal space.


familial hypobetalipoproteinemia 1

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.


Senior-Loken syndrome 1

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.


name: rolandic epilepsy-speech dyspraxia syndrome

description: A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.


name: hereditary hypercarotenemia and vitamin A deficiency

description: Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.


name: X-linked intellectual disability-spastic quadriparesis syndrome


name: pulmonary artery coming from patent ductus arteriosus


dystonia 27

description: Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.


furuncular myiasis

description: Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).


Lenz-Majewski hyperostotic dwarfism

description: Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.


name: multiple mitochondrial dysfunctions syndrome 5


name: retinitis pigmentosa with or without situs inversus

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.


inborn disorder of purine metabolism

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


description: Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.


deafness-lymphedema-leukemia syndrome

description: Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


name: microcephalic osteodysplastic primordial dwarfism


Gomez-Lopez-Hernandez syndrome

description: A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.


amelogenesis imperfecta type 1G

description: An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.


name: inborn disorder of serine family metabolism

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


acromegaly, non-human animal

description: Acromegaly that occurs in non-human animals.


name: Bicervical bicornuate uterus and blind hemivagina


Horner syndrome, non-human animal

description: Horner syndrome that occurs in non-human animals.


name: qualitative or quantitative protein defects in neuromuscular diseases


name: developmental and epileptic encephalopathy 31B


Joubert syndrome 8

description: Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.


name: melanoma, cutaneous malignant, susceptibility to, 6


tooth agenesis, selective, 7

description: Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.


melorheostosis with osteopoikilosis

description: Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.


platelet-type bleeding disorder 12

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.


name: parietal foramina with cleidocranial dysplasia

description: Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.


trombiculiasis

description: Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.


Nematoda infectious disease

description: Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.


Joubert syndrome 23

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.


epiphyseal dysplasia, multiple, 6

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.


familial Dupuytren contracture

description: Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).


name: persistent Mullerian duct syndrome, non-human animal

description: Persistent Mullerian duct syndrome that occurs in non-human animals.


spondyloepiphyseal dysplasia congenita

description: A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.


name: marfanoid habitus-inguinal hernia-advanced bone age syndrome


peeling skin syndrome 1

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.


lymphosarcoma, pig

description: Lymphosarcoma that occurs in pig.


name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


Adams-Oliver syndrome 3

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


description: This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.


name: intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome


hereditary spastic paraplegia 37

description: Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.


name: endometrioid stromal and related neoplasms of the vagina

description: A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.


RP1-related recessive retinopathy

description: An autosomal dominant retinopathy caused by variants in the RP1 gene.


chromosome 17q12 duplication syndrome

description: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.


cavitary myiasis

description: Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.


name: myopathy, epilepsy, and progressive cerebral atrophy


name: keratosis palmaris et plantaris-clinodactyly syndrome

description: Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.


name: inborn disorder of phenylalanine and tyrosine metabolism


description: Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.


description: Tricho-dento-osseous-like syndrome that occurs in cattle.


inherited Fanconi renotubular syndrome

description: An instance of Fanconi renotubular syndrome that is inherited.


pancytopenia due to IKZF1 mutations

description: Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.


name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


name: intellectual disability, autosomal recessive 28


rapadilino syndrome

description: RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.


name: epilepsy of infancy with migrating focal seizures

description: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.


acquired laryngomalacia

description: A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.


name: congenital disorder of glycosylation, type IIaa


name: melanoma, cutaneous malignant, susceptibility to, 4


hereditary spastic paraplegia 8

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.


name: mitochondrial complex 1 deficiency, nuclear type 11


name: autosomal recessive nonsyndromic hearing loss 65

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.


bovine rectal myxoma

description: A myxoma that occurs in the rectum of a cow.


name: autosomal dominant limb-girdle muscular dystrophy type 1F

description: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.


15q14 microdeletion syndrome

description: 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.


lymphatic malformation 1

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.


name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

description: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.


Usher syndrome type 1K

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.


CHEK2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.


name: split-hand/foot malformation with long bone deficiency 2


name: autosomal dominant nocturnal frontal lobe epilepsy 3

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.


hereditary spastic paraplegia 75

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


9p13 microdeletion syndrome

description: 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).


name: hereditary thrombophilia due to congenital protein S deficiency

description: Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.


name: rhabdoid tumor predisposition syndrome 1

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.


cardiomyopathy, goat

description: Cardiomyopathy that occurs in goat.


name: secondary hypoparathyroidism due to impaired parathormon secretion


name: intellectual disability, autosomal recessive 34

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


soft tissue amyloid neoplasm

description: A soft tissue neoplasm composed of acellular amyloid material.


hypotonic cerebral palsy

description: A type of cerebral palsy characterized by decreased muscle tone.


name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form


name: hemolytic anemia due to adenylate kinase deficiency

description: Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


name: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


name: hypogonadotropic hypogonadism 9 with or without anosmia

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


Hb Bart's hydrops fetalis

description: Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).


factor VII deficiency, Asiatic elephant

description: Factor VII deficiency that occurs in Asiatic elephant.


primary ciliary dyskinesia 2

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.


hereditary periodic fever syndrome

description: An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.


name: microcephaly 6, primary, autosomal recessive

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


Charcot-Marie-Tooth disease type 2J

description: Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


atherosclerosis, dog

description: Atherosclerosis that occurs in dog.


name: autosomal recessive nonsyndromic hearing loss 45

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.


chromosome 19p13.13 deletion syndrome

description: 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).


name: cloverleaf skull-multiple congenital anomalies syndrome

description: This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.


osteogenesis imperfecta type 13

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.


cystic fibrosis, non-human animal

description: Cystic fibrosis that occurs in non-human animals.


C syndrome

description: C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.


coloboma, Mexican tetra

description: Coloboma that occurs in Mexican tetra.


name: atrichia with papular lesions, Rhesus monkey

description: Atrichia with papular lesions that occurs in Rhesus monkey.


description: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: intellectual disability, X-linked, with or without seizures, arx-related


iris cancer

description: A malignant neoplasm involving the iris.


name: hereditary hemorrhagic telangiectasia type 4


lymphosarcoma, non-human animal

description: Lymphosarcoma that occurs in non-human animals.


name: hyperinsulinemic hypoglycemia, familial, 8


name: hyperphosphatasia with intellectual disability syndrome 6

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


name: multinodular and vacuolating neuronal tumor

description: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.


myotonic dystrophy, Japanese quail

description: Myotonic dystrophy that occurs in Japanese quail.


TSPAN12-related vitreoretinopathy

description: A vitreoretinopathy caused by variants in the TSPAN12 gene.


parametritis

description: Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.


occlusion precerebral artery

description: Evidence of occlusion and stenosis of unspecified precerebral artery.


name: hypophosphatemic rickets, autosomal recessive, 1

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.


name: hypogonadotropic hypogonadism 25 with anosmia


cataract 39 multiple types

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


name: developmental and epileptic encephalopathy, 70


trypanosomiasis, bovine

description: Infection in cattle caused by various species of trypanosomes.


Ascher syndrome

description: Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.


heterophyiasis

description: An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


hereditary spherocytosis type 4

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.


name: microcephaly 19, primary, autosomal recessive


name: autoimmune disorder of peripheral nervous system

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


cystic fibrosis, domestic ferret

description: Cystic fibrosis that occurs in domestic ferret.


name: familial clubfoot due to PITX1 point mutation


von Willebrand disease 3

description: Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).


name: chronic neurovisceral acid sphingomyelinase deficiency


retinal drusen

description: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.


20p13 microdeletion syndrome

description: 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.


atrial septal defect 6

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.


cone-rod dystrophy 5

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.


TTN-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.


piedra

description: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.


alopecia areata, horse

description: Alopecia areata that occurs in horse.


uterine corpus adenocarcinofibroma

description: A adenocarcinofibroma that involves the body of uterus.


isolated congenital ectropion

description: A congenital ectropion that is not part of a larger syndrome.


mesomelic dysplasia, Kantaputra type

description: Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.


retinitis pigmentosa 17

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.


scrotal disorder

description: A disease or disorder that involves the scrotum.


TEK-related primary glaucoma

description: Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.


name: intellectual disability, autosomal recessive 14

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


name: mucopolysaccharidosis type 6, slowly progressing


complete trisomy 13

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


benign vaginal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.


name: neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


name: partial trisomy of the long arm of chromosome 20


description: A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.


name: disorder of fatty acid oxidation and ketogenesis


oocyte maturation defect 4

description: An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.


cerebral palsy, spastic quadriplegic, 2

description: Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.


isolated focal cortical dysplasia

description: Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.


name: hypertrophic cardiomyopathy, woolly monkeys

description: Hypertrophic cardiomyopathy that occurs in woolly monkeys.


Senior-Loken syndrome 8

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: microcytic anemia with liver iron overload

description: Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.


prurigo nodularis

description: Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.


isolated microphthalmia 8

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.


acquired hyperprolactinemia

description: An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.


name: dyskeratosis congenita, autosomal recessive 1

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.


name: amelogenesis imperfecta hypomaturation type 2A3

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.


primary cutaneous lymphoma

description: Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.


epithelioid type angiomyolipoma

description: An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.


femoral-facial syndrome

description: Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.


intraocular medulloepithelioma

description: Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.


glycogen storage disease IXd

description: A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.


name: amelogenesis imperfecta hypomaturation type 2A2

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.


name: short-rib thoracic dysplasia 11 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.


nodular lichen myxedematosus

description: Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.


name: autosomal recessive nonsyndromic hearing loss 104

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.


name: developmental and epileptic encephalopathy, 53


corneal dystrophy, Fuchs endothelial, 6

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.


hereditary spastic paraplegia 29

description: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.


hypertrophic cardiomyopathy, cattle

description: Hypertrophic cardiomyopathy that occurs in cattle.


name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type

description: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.


name: sudden infant death-dysgenesis of the testes syndrome

description: Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.


sterol metabolism disorder

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


PALB2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.


acute laryngopharyngitis

description: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.


name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect


Johnson neuroectodermal syndrome

description: Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


name: neurodevelopmental disorder with seizures and brain abnormalities


congenital hypothyroidism, sheep

description: Congenital hypothyroidism that occurs in sheep.


benign soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the soft tissue.


mosaic trisomy 15

description: Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.


name: cardiovascular disorder, non-human animal

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


name: neurodevelopmental disorder with language impairment and behavioral abnormalities


Pelger-Huet anomaly, domestic cat

description: Pelger-Huet anomaly that occurs in domestic cat.


name: glycogen storage disorder due to hepatic glycogen synthase deficiency

description: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.


essential hypertension, genetic

description: An instance of essential hypertension that is caused by a modification of the individual's genome.


name: polymicrogyria with optic nerve hypoplasia

description: A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.


Feingold syndrome type 2

description: Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.


branchiogenic deafness syndrome

description: Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.


familial hypofibrinogenemia

description: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.


childhood brain meningioma

description: A brain meningioma that occurs during childhood.


name: epidermolysis bullosa dystrophica with subcorneal cleavage


name: SLC35A1-congenital disorder of glycosylation

description: SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 3


name: dyssegmental dysplasia, Rolland-Desbuquois type


name: Ehlers-Danlos syndrome, vascular-like type

description: Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.


familial thrombocytosis

description: Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.


syndactyly, non-human animal

description: Syndactyly that occurs in non-human animals.


name: Kallmann syndrome-heart disease syndrome

description: Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.


basal laminar drusen

description: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.


name: melanoma in congenital melanocytic nevus

description: A melanoma of the skin arising in a congenital melanocytic nevus.


name: melanoma, cutaneous malignant, susceptibility to, 2

description: Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)


name: autosomal recessive nonsyndromic hearing loss 85

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.


name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy


name: congenital pseudoarthrosis of the fibula


branchiootorenal syndrome 2

description: Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.


primary ciliary dyskinesia 26

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.


distal trisomy 2q

description: Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.


Aeromonas hydrophila infectious disease

description: Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.


name: Ehlers-Danlos syndrome due to tenascin-X deficiency


epidemic pleurodynia

description: An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.


multibacillary leprosy

description: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.


name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


linear atrophoderma of Moulin

description: Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.


trichodysplasia-xeroderma syndrome

description: Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.


name: autosomal dominant nonsyndromic hearing loss 59

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.


name: combined oxidative phosphorylation defect type 25

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.


atypical lymphoproliferative disorder

description: A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.


name: selective pituitary resistance to thyroid hormone

description: Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.


name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


cutaneous mastocytoma

description: Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


name: camptodactyly-tall stature-scoliosis-hearing loss syndrome

description: Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.


name: spondyloepimetaphyseal dysplasia, di rocco type


choroideremia-deafness-obesity syndrome

description: Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.


hereditary spastic paraplegia 18

description: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.


name: round cell sarcoma with FUS-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.


name: periodic paralysis with later-onset distal motor neuropathy


name: combined oxidative phosphorylation defect type 8

description: Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.


motor nerve neuritis

description: Inflammation of the peripheral motor nerves.


dermoid cyst of skin

description: A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.


name: non-specific autoimmune cerebellar ataxia without characteristic antibodies


reducing body myopathy

description: Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.


trigeminal nerve disorder

description: A disease involving the trigeminal nerve.


cervical dermoid cyst

description: Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.


name: hydrocephaly-tall stature-joint laxity syndrome

description: Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.


vaginal carcinosarcoma

description: An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.


name: intellectual disability, autosomal recessive 45

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.


name: multiple cutaneous and mucosal venous malformations

description: Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.


name: congenital absence of both lower leg and foot


name: multiple epiphyseal dysplasia, Beighton type

description: Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


acro-renal-mandibular syndrome

description: Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.


16q24.1 microdeletion syndrome

description: 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


name: spastic paraplegia-precocious puberty syndrome

description: Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.


lichen nitidus

description: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.


uterus intravascular leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.


name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


glomerulonephritis, non-human animal

description: Glomerulonephritis that occurs in non-human animals.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

description: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


name: acute anterolateral myocardial infarction

description: Acute form of anterolateral myocardial infarction.


benign neoplasm of lower jaw bone

description: A benign neoplasm that involves the bone of lower jaw.


schizophrenia 3

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


cone-rod dystrophy 15

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.


isolated microphthalmia 6

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.


hypereosinophilic syndrome, dog

description: Hypereosinophilic syndrome that occurs in dog.


hypomyelinating leukodystrophy 12

description: Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.


hearing loss with skin disease

description: Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


TPM2-related myopathy

description: A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.


name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

description: Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.


name: muscular dystrophy-dystroglycanopathy type B6

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


name: isolated focal non-epidermolytic palmoplantar keratoderma


name: hypotonia-failure to thrive-microcephaly syndrome

description: Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.


distal monosomy 7q36

description: Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.


name: congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

description: A benign neoplasm that involves the sense organ.


name: POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

description: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.


split hand, domestic cat

description: Split hand that occurs in domestic cat.


Osebold-Remondini syndrome

description: A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.


name: alpha-N-acetylgalactosaminidase deficiency type 2

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


baroreflex failure

description: Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.


polyp of vulva

description: A polyp that involves the mammalian vulva.


chordoid meningioma

description: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.


hyperprolinemia type 1

description: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


synovium neoplasm

description: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.


auditory system cancer

description: A malignant neoplasm involving the auditory system


name: congenital myopathy with myasthenic-like onset

description: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.


name: Prader-Willi syndrome due to paternal 15q11q13 deletion


name: congenital systemic arteriovenous fistula


retinitis pigmentosa 28

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.


orofacial cleft 5

description: Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.


name: autosomal recessive congenital ichthyosis 11


mitochondrial DNA depletion syndrome 13

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.


muscular channelopathy

description: A channelopathy that involves the muscle tissue.


aniseikonia

description: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


name: spondyloepimetaphyseal dysplasia, Missouri type

description: A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.


Rothmund-Thomson syndrome type 1

description: Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.


myopathy, centronuclear, 2

description: Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.


name: B-cell childhood acute lymphoblastic leukemia

description: An acute B-lymphoblastic leukemia occurring in children.


description: Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.


name: early-onset posterior subcapsular cataract


azoospermia, non-human animal

description: Azoospermia that occurs in non-human animals.


patent ductus arteriosus, horse

description: Patent ductus arteriosus that occurs in horse.


name: autosomal recessive cerebellar ataxia with late-onset spasticity

description: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.


parastremmatic dwarfism

description: Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.


synovial bursa disorder

description: A disease or disorder that involves the synovial bursa.


name: microcephaly 29, primary, autosomal recessive


name: recessive dystrophic epidermolysis bullosa inversa

description: Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.


Treacher Collins syndrome 3

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.


name: ovarian cancer, familial, susceptibility to, 3


benign fibrous histiocytoma

description: A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.


incontinentia pigmenti, horse

description: Incontinentia pigmenti that occurs in horse.


name: epileptic encephalopathy, infantile or early childhood, 1


TUBB2A-related tubulinopathy

description: A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


childhood malignant mesenchymoma

description: A malignant mesenchymoma occurring in children.


name: adult type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.


ABeta amyloidosis, Arctic type

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

description: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


name: combined oxidative phosphorylation deficiency 46


name: autosomal recessive intermediate Charcot-Marie-Tooth disease

description: Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.


petrous apex meningioma

description: A meningioma that affects the petrous apex.


brachydactyly type B2

description: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


urolithiasis, Javan langur

description: Urolithiasis that occurs in Javan langur.


name: acute myeloid leukemia, t(11;19)(q23;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)


name: autoinflammatory syndrome due to TBK1 deficiency

description: Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


acquired schizencephaly

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


name: cleft palate-short stature-vertebral anomalies syndrome

description: Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.


factor XII deficiency, dog

description: Factor XII deficiency that occurs in dog.


name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

description: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.


name: succinic semialdehyde dehydrogenase deficiency, non-human animal

description: Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.


myiasis

description: The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.


name: developmental and epileptic encephalopathy, 81


radial hemimelia

description: Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


fasciolopsiasis

description: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.


name: muscular dystrophy, limb-girdle, autosomal recessive 26


name: infantile-onset ascending hereditary spastic paralysis

description: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.


name: thrombophilia due to protein S deficiency, autosomal dominant

description: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.


nanophthalmos 4

description: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


name: renal hypoplasia, bilateral, non-human animal

description: Renal hypoplasia, bilateral that occurs in non-human animals.


actinobacillosis

description: A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.


name: autosomal dominant nonsyndromic hearing loss 28

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.


Far-East scarlet-like fever

description: A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


exudative vitreoretinopathy 5

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.


name: multiple mitochondrial dysfunctions syndrome 4

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


tick-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


akinetopsia

description: An agnosia that is a loss of motion perception.


name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

description: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


urofacial syndrome 2

description: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.


achondroplasia, sheep

description: Achondroplasia that occurs in sheep.


chronic endophthalmitis

description: Chronic form of endophthalmitis.


name: muscular dystrophy, Hemizygous lethal type


Kienbock disease

description: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


name: supravalvular aortic stenosis, domestic cat

description: Supravalvular aortic stenosis that occurs in domestic cat.


acquired testicular failure

description: Testicular failure, the cause of which is not present at birth.


chancroid

description: Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


name: congenital anomalies of kidney and urinary tract 1

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


traumatic myositis ossificans

description: Myositis Ossificans resulting from trauma.


retinitis pigmentosa 75

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.


sweat gland neoplasm

description: A benign or malignant neoplasm arising from the sweat glands.


achondroplasia, non-human animal

description: Achondroplasia that occurs in non-human animals.


name: combined immunodeficiency due to STK4 deficiency

description: A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).


acute lichenoid pityriasis

description: A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


description: X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.


name: pidermolysis bullosa simplex 5A, Ogna type

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.


multiple endocrine neoplasia type 4

description: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

description: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


name: neuronopathy, distal hereditary motor, autosomal recessive 3

description: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


NEK9-related lethal skeletal dysplasia

description: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.


Brugada syndrome 4

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


name: polycystic kidney disease 6 with or without polycystic liver disease

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.


name: neuronopathy, distal hereditary motor, type 7A

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.


name: preaxial digit brachydactyly-webbed fingers


name: combined oxidative phosphorylation deficiency 51


name: factor V and factor VIII, combined deficiency of, type 1

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


name: progressive familial heart block type IB

description: Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.


name: polycystic kidney disease, crab-eating macaque

description: Polycystic kidney disease that occurs in crab-eating macaque.


ringed hair disease

description: Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


inborn aminoacylase deficiency

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


name: generalized epilepsy with febrile seizures plus, type 12


paratesticular lipoma

description: A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


Weill-Marchesani syndrome 3

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


loricrin keratoderma

description: A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.


nephronophthisis 4

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


primary ciliary dyskinesia 32

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


name: 46,XX ovarian dysgenesis-short stature syndrome


prekallikrein deficiency

description: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.


periodic fever syndrome, dog

description: Periodic fever syndrome that occurs in dog.


Toriello-Lacassie-Droste syndrome

description: Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.


acquired primary ovarian failure

description: An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

description: Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


name: generalized epilepsy with febrile seizures plus, type 9

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


name: acute myeloid leukemia, t(6;11)(q27;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


name: Ehlers-Danlos syndrome, periodontitis type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.


myotubular myopathy 1, dog

description: Myotubular myopathy 1 that occurs in dog.


autosomal dominant primary microcephaly

description: Autosomal dominant form of microcephaly (disease).


brachial plexus neoplasm

description: A neoplasm (disease) that involves the brachial nerve plexus.


Joubert syndrome 26

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.


name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


aortic aneurysm, familial thoracic 10

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.


nephrotic syndrome, type 3

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


name: combined oxidative phosphorylation defect type 26

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


osteopetrosis, horse

description: Osteopetrosis that occurs in horse.


ring chromosome 9

description: Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


name: neurodevelopmental disorder with severe motor impairment and absent language


primary adult heart tumor

description: Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


name: intellectual developmental disorder, autosomal dominant 69


name: microphthalmia, isolated, with coloboma 3

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


nervous system disorder

description: A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.


name: Pelger-Huet-like anomaly and episodic fever with abdominal pain

description: An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


name: renal tubulopathy-encephalopathy-liver failure syndrome

description: Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


benign eccrine neoplasm

description: A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


pemphigus, cattle

description: Pemphigus that occurs in cattle.


acrorenal syndrome

description: Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.


name: respiratory system disorder, non-human animal

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


name: atrichia with papular lesions, non-human animal

description: Atrichia with papular lesions that occurs in non-human animals.


name: congenital dyserythropoietic anemia type type 1B


name: amyotrophic lateral sclerosis with polyglucosan bodies


RAD51C-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


name: neurodevelopmental disorder with progressive movement abnormalities


name: Charcot-Marie-Tooth disease, axonal, IIa 2II


Bruck syndrome 1

description: Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


name: combined immunodeficiency due to RELA haploinsufficiency


glucocorticoid deficiency 1

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.


retinitis pigmentosa 41

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.


name: developmental and epileptic encephalopathy, 13

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


neuroblastoma, susceptibility to, 3

description: Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.


pemphigus erythematosus

description: Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


name: autosomal dominant optic atrophy plus syndrome

description: Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.


oesophagostomiasis

description: Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


congenital adrenal hyperplasia, rabbit

description: Congenital adrenal hyperplasia that occurs in rabbit.


fetal cytomegalovirus syndrome

description: An infection with the Cytomegalovirus that is present from birth.


name: X-linked intellectual disability with marfanoid habitus

description: The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.


name: congenital disorder of deglycosylation 2


proximal-type epithelioid sarcoma

description: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.