description: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.


Cantu Sanchez-Corona Hernandez syndrome

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

description: Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies


primary ciliary dyskinesia 22

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.


non-syndromic brachydactyly of toes

description: A non-syndromic brachydactyly that involves the pes.


retinitis pigmentosa 55

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.


Dahlberg-Borer-Newcomer syndrome

description: Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.


name: mitochondrial complex 3 deficiency, nuclear type 10


description: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).


sialuria

description: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.


short QT syndrome type 2

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.


name: familial hemophagocytic lymphohistiocytosis 4

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.


name: microcephaly, developmental delay, and brittle hair syndrome


fibrochondrogenesis

description: Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.


urinary bladder posterior wall cancer

description: Evidence of a malignant neoplasm of the posterior wall of bladder.


neurocutaneous melanocytosis

description: Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.


name: corneal dystrophy ichthyosis microcephaly intellectual disability


entropion, cattle

description: Entropion that occurs in cattle.


chromosome 16 disorder

description: Chromosomal disorder in which chromosome 16 is affected.


name: qualitative or quantitative defects of perlecan


primary laryngeal lymphangioma

description: Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.


fibrogenesis imperfecta ossium

description: A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.


intellectual disability, X-linked 103

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.


torsion dystonia 4

description: DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).


name: homocystinuria due to methylene tetrahydrofolate reductase deficiency

description: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.


polydactyly, pig

description: Polydactyly that occurs in pig.


lipoma of face

description: A lipoma that involves the face.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.


name: brain malformations with or without urinary tract defects

description: A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


hereditary Wilms tumor

description: Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)


conventional leiomyosarcoma

description: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.


name: ulna hypoplasia-intellectual disability syndrome

description: Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.


name: Angelman syndrome due to imprinting defect in 15q11-q13


name: complex cortical dysplasia with other brain malformations 2

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.


name: Prader-Willi syndrome due to imprinting mutation


kidney liposarcoma

description: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.


Basaran Yilmaz syndrome

description: A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.


name: keratosis follicularis spinulosa decalvans

description: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

description: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


name: congenital primary megaureter, refluxing and obstructed form


name: mitochondrial proton-transporting ATP synthase complex deficiency

description: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


hypogonadism, deer

description: Hypogonadism that occurs in deer.


name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form


galactosemia, non-human animal

description: Galactosemia that occurs in non-human animals.


mirror movements 2

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.


post-traumatic epilepsy

description: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)


gestational trophoblastic neoplasm

description: A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.


large B-cell lymphoma

description: A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.


Meckel syndrome, type 5

description: Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


acute cervicitis

description: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.


name: enterovirus infectious disease, non-human animal

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


anencephaly

description: A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.


orchitis, dog

description: Orchitis that occurs in dog.


vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


cerebrocostomandibular syndrome

description: Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.


maculopapular cutaneous mastocytosis

description: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


thalamic disorder

description: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


diabetes insipidus, horse

description: Diabetes insipidus that occurs in horse.


name: spondyloepiphyseal dysplasia, MacDermot type

description: Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.


tricarboxylic acid cycle disorder

description: An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


Alzheimer disease type 1

description: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


split hand, non-human animal

description: Split hand that occurs in non-human animals.


cervical artery dissection

description: A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.


name: combined oxidative phosphorylation deficiency 58


PENS syndrome

description: PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


name: malignant epithelial tumor of salivary glands


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


fallopian tube disorder

description: A disease involving the fallopian tube.


name: chronic mucocutaneous candidiasis due to lymphokine deficiency


annular atrophic lichen planus

description: Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.


Borjeson-Forssman-Lehmann syndrome

description: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


acute flaccid myelitis

description: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.


myotonic syndrome

description: An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.


eccrine mixed tumor of skin

description: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.


SAMHD1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.


polydactyly, Western roe deer

description: Polydactyly that occurs in Western roe deer.


urolithiasis, cattle

description: Urolithiasis that occurs in cattle.


PSAT deficiency

description: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.


name: developmental and epileptic encephalopathy, 69


name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome


prurigo

description: A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


name: arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


pontocerebellar hypoplasia type 6

description: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


name: corticosterone methyloxidase type 2 deficiency


hepatitis, infectious canine

description: A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.


name: FASTKD2-related infantile mitochondrial encephalomyopathy


name: Van den Ende-Gupta syndrome, non-human animal

description: Van den Ende-Gupta syndrome that occurs in non-human animals.


osteogenesis imperfecta, type 18

description: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).


name: glutathione synthetase deficiency without 5-oxoprolinuria


autosomal dominant hypocalcemia 1

description: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.


primary lymphoma of the conjunctiva

description: Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.


name: ossification anomalies-psychomotor developmental delay syndrome

description: Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.


name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

description: A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.


name: non-syndromic metopic and sagittal craniosynostosis


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


name: hypertrophic cardiomyopathy, Rhesus monkey

description: Hypertrophic cardiomyopathy that occurs in Rhesus monkey.


TRAF3 haploinsufficiency

description: Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.


microcephaly-cardiomyopathy syndrome

description: A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.


description: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.


name: chlamydia trachomatis infectious disease

description: An infection that is caused by Chlamydia trachomatis.


name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


name: hypogonadotropic hypogonadism 24 without anosmia

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


ventricular tachycardia, familial

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


Proteus-like syndrome

description: Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.


bilateral frontoparietal polymicrogyria

description: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.


name: partial duplication of the long arm of chromosome 3

description: Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


name: acrofacial dysostosis, Kennedy-Teebi type

description: Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.


chromosome 4 disorder

description: Chromosomal disorder in which chromosome 4 is affected.


nutritional deficiency disease

description: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


cerebellar neoplasm

description: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003


autosomal recessive osteopetrosis 3

description: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.


name: epiphyseal dysplasia dysmorphism camptodactyly


supine hypotensive syndrome

description: A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.


larva migrans, visceral

description: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.


name: syndromic X-linked intellectual disability Siderius type


name: IKBKG-related immunodeficiency with or without ectodermal dysplasia

description: Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).


amnionitis

description: Inflammation of the amnion.


penile sarcoma

description: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.


enterobiasis

description: An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.


name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive

description: A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.


description: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.


acute frontal sinusitis

description: Acute form of frontal sinusitis.


craniolenticulosutural dysplasia

description: Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.


bipolar I disorder

description: A bipolar disorder that is characterized by at least one manic or mixed episode.


benign neonatal seizures

description: A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


name: congenital anomaly of kidney and urinary tract

description: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.


valvar pulmonary stenosis

description: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


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

description: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.


ameloblastoma, non-human animal

description: Ameloblastoma that occurs in non-human animals.


name: developmental and epileptic encephalopathy, 90


borna disease

description: An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.


name: spastic paraplegia 86, autosomal recessive


vitiligo, water buffalo

description: Vitiligo that occurs in water buffalo.


name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


name: intellectual developmental disorder, autosomal recessive 68


lymphoid system disorder

description: A disease or disorder that involves the lymphoid system.


congenital myopathy, Paradas type

description: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.


near-fatal asthma

description: An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.


neuritis of upper limb

description: A neuritis that involves the forelimb.


iatrogenic disease, non-human animal

description: Iatrogenic disease that occurs in non-human animals.


name: Ambras type hypertrichosis universalis congenita

description: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.


name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


non specific chronic endometritis

description: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.


name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


skin angiosarcoma

description: A malignant vascular neoplasm arising from the skin.


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


mycobacterial infectious disease

description: Infection due to organisms from the genus Mycobacteria.


myopathy, distal, 5

description: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.


name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies


canine lung adenocarcinoma

description: A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.


name: spinal muscular atrophy with intellectual disability


escherichia coli discitis

description: Discitis caused by infection with Escherichia coli.


name: colorectal cancer, susceptibility to, 11


name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


inherited epidermolysis bullosa

description: Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


benign neoplasm of adrenal medulla

description: A benign neoplasm that involves the adrenal medulla.


graft versus host disease

description: An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.


name: cornea guttata with anterior polar cataracts


name: combined hyperactive dysfunction syndrome of the cranial nerves


immunodeficiency 47

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.


ocular vascular disorder

description: A disorder that is caused by pathologic changes in the ocular vasculature.


name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

description: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.


adult pleomorphic rhabdomyosarcoma

description: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.


interventricular septum aneurysm

description: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.


name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

description: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.


sudden sensorineural hearing loss

description: Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


name: severe nonproliferative diabetic retinopathy


name: autosomal recessive nonsyndromic hearing loss 102

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


name: neurodevelopmental disorder with hypotonia and gross motor and speech delay


brachial amyotrophic diplegia

description: A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.


UV-sensitive syndrome

description: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.


hemophilia B, dog

description: Hemophilia B that occurs in dog.


epithelioid sarcoma

description: An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).


name: leukodystrophy and acquired microcephaly with or without dystonia;


early onset hypertension

description: A form of hypertension with early onset relative to normal range for a given population.


isolated congenital alacrima

description: Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.


name: partial trisomy of the long arm of chromosome 18


lissencephaly 6 with microcephaly

description: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.


name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


name: colorectal cancer, susceptibility to, 10

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.


name: neurodevelopmental disorder with epilepsy and brain atrophy


Kousseff syndrome

description: A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.


spina bifida-hypospadias syndrome

description: Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.


factor XII deficiency, non-human animal

description: Factor XII deficiency that occurs in non-human animals.


name: atrophia maculosa varioliformis cutis, familial


name: peroxisome biogenesis disorder 4A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


mucosal melanoma

description: A melanoma that arises from a mucosal site.


17q11.2 microduplication syndrome

description: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


bacillary angiomatosis

description: A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.


Schilbach-Rott syndrome

description: Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.


mitochondrial complex III deficiency

description: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).


name: spondyloepiphyseal dysplasia, kondo-fu type


name: leukemia, acute lymphocytic, susceptibility to, 1


corneal dystrophy, Fuchs endothelial, 4

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.


plasma cell neoplasm

description: A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.


equine neoplasm

description: Neoplasm that occurs in a horse.


erythroid neoplasm

description: A neoplasm affecting cells of the erythroid lineage.


childhood testicular choriocarcinoma

description: A choriocarcinoma that arises from the testis during childhood.


name: metachromatic leukodystrophy, late infantile form


myofibrillar myopathy 5

description: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.


name: paternal uniparental disomy of chromosome 1

description: Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


Charcot-Marie-Tooth disease type 3

description: A demyelinating peripheral neuropathy characterized by delayed motor development.


non-hodgkin lymphoma, non-human animal

description: Non-hodgkin lymphoma that occurs in non-human animals.


Scott Syndrome, non-human animal

description: Scott Syndrome that occurs in non-human animals.


name: SLC10A7-congenital disorder of glycosylation

description: SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.


name: developmental and epileptic encephalopathy, 48

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


name: Nodal T-follicular helper cell lymphoma, follicular type


adhesive otitis media

description: An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.


myotonic dystrophy type 2

description: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


lepromatous leprosy

description: A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.


Wilms tumor 5

description: Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.


thrombotic thrombocytopenic purpura

description: Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.


name: isolated bilateral hemispheric cerebellar hypoplasia

description: Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.


name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies


spinocerebellar ataxia type 38

description: Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.


cerebellar disorder

description: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.


tricho-dento-osseous syndrome

description: Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.


primary ciliary dyskinesia 6

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.


name: RNASEH2A-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


Joubert syndrome with ocular defect

description: Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.


Allen-Masters syndrome

description: A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.


name: neurodevelopmental disorder with poor growth and skeletal anomalies


name: onychogryposis, pedal, with keratosis plantaris and coarse hair


name: spondyloepimetaphyseal dysplasia, aggrecan type

description: A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.


name: intellectual disability, autosomal recessive 56

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.


T-cell adult acute lymphocytic leukemia

description: An acute T-lymphoblastic leukemia occurring in adults.


name: glutamyl ribose-5-phosphate storage disease


name: acute myeloid leukemia, t(16;21)(p11;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)


cataract 19 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.


pseudohypoparathyroidism type 2

description: Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.


osteopetrosis, cattle

description: Osteopetrosis that occurs in cattle.


allergic rhinitis, non-human animal

description: Allergic rhinitis that occurs in non-human animals.


CNGB3-related retinopathy

description: A retinopathy caused by biallelic variants in the CNGB3 gene.


name: ciliary dyskinesia, primary, 49, without situs inversus


distal monosomy 13q

description: Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.


gonococcal bursitis

description: An bursitis caused by infection with Neisseria gonorrhoeae.


description: A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.


name: multiple mitochondrial dysfunctions syndrome 3

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


focal segmental glomerulosclerosis 6

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.


caudal regression-sirenomelia spectrum

description: Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.


name: split-foot malformation-mesoaxial polydactyly syndrome


brachydactyly, pig

description: Brachydactyly that occurs in pig.


acquired agranulocytosis

description: Agranulocytosis that is autoimmune in origin.


stromal corneal pigmentation

description: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.


retinal cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.


name: chromosome 19q13.11 deletion syndrome, distal

description: Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.


mycosis fungoides, horse

description: Mycosis fungoides that occurs in horse.


name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

description: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.


disruptive behavior disorder

description: A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.


name: dyskeratosis congenita, autosomal recessive 6

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.


name: spinal muscular atrophy with congenital bone fractures 2

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.


name: autosomal recessive frontotemporal pachygyria


name: myopathy, distal, 6, adult-onset, autosomal dominant


overnutrition

description: An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.


name: pseudoacromegaly with severe insulin resistance


description: Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.


reciprocal translocation down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.


inherited kidney disorder

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


familial spontaneous pneumothorax

description: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.


bilateral multicystic dysplastic kidney

description: Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.


exercise-induced bronchoconstriction

description: An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.


epilepsy, familial temporal lobe, 1

description: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


parasitic infectious disease

description: A successful invasion of a host by an organism that uses the host for food and shelter.


name: hyperammonemia due to N-acetylglutamate synthase deficiency

description: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


acromesomelic dysplasia 2A

description: An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.


primary pulmonary lymphoma

description: Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).


retinitis pigmentosa 43

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.


name: blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome


name: granulomatous disease with defect in neutrophil chemotaxis


calciphylaxis cutis

description: Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.


phimosis

description: A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.


X-linked recessive disease

description: X-linked recessive form of disease.


ATTRV30M amyloidosis

description: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.


description: The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.


name: congenital myopathy 2c, severe infantile, autosomal dominant


Tay-Sachs disease AB variant

description: GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.


name: limbic encephalitis with caspr2 antibodies

description: Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.


name: polymicrogyria, bilateral perisylvian, autosomal recessive


congenital fibrinogen deficiency

description: Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).


atrophic rhinitis, non-human animal

description: Atrophic rhinitis that occurs in non-human animals.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.


description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.


social phobia

description: An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.


name: chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


benign struma ovarii

description: A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.


episodic ataxia type 5

description: Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.


acute gonococcal salpingitis

description: Acute form of gonococcal salpingitis.


name: neurodevelopmental disorder with or without autism or seizures


description: An epilepsy syndrome that has an onset during the adolescent or adult stage of life.


name: hypersecretion of adrenal androgens, familial


name: congenital disorder of glycosylation syndrome type 4


name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


eye allergy

description: An allergic disease involving a pathogenic inflammatory response in the camera-type eye.


name: muscle-eye-brain disease with bilateral multicystic leucodystrophy

description: Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.


name: hypomagnesemia, seizures, and intellectual disability 2


name: hypomyelination with brain stem and spinal cord involvement and leg spasticity


name: autosomal recessive nonsyndromic hearing loss 5

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.


mosaic trisomy 9

description: Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.


name: nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


name: cortical dysplasia, complex, with other brain malformations 12


heterotaxy, visceral, 4, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.


nephronophthisis 9

description: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


reticuloendotheliosis, X-linked

description: A greater than normal number of blood cells in the reticuloendothelial system.


semantic agnosia

description: An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.


name: myeloproliferative disease, autosomal recessive


geleophysic dysplasia 1

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


combat disorder

description: Neurotic reactions to unusual, severe, or overwhelming military stress.


name: developmental and epileptic encephalopathy, 79


name: developmental and epileptic encephalopathy, 40

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


name: medulloblastoma SHH activated and TP53 wild-type

description: A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.


name: lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy


polycythemia due to hypoxia

description: Polycythemia resulting from hypoxia.


congenital coronary artery aneurysm

description: Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.


retinoschisis, dog

description: Retinoschisis that occurs in dog.


congenital myopathy 23

description: Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.


name: intellectual disability, autosomal recessive 60


name: cerebellar hypoplasia-tapetoretinal degeneration syndrome

description: Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.


hereditary hypophosphatemic rickets

description: Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.


name: progeroid features-hepatocellular carcinoma predisposition syndrome


skin lipoma

description: A benign or malignant adipose tissue neoplasm of the skin.


hibernoma

description: A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.


zoster sine herpete

description: Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.


urolithiasis, Francois's langur

description: Urolithiasis that occurs in Francois's langur.


hemophilia

description: Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.


muscular dystrophy, sheep

description: Muscular dystrophy that occurs in sheep.


name: neurodevelopmental disorder with or without seizures and gait abnormalities


name: synovial chondromatosis, familial, with dwarfism


name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


dystonia 5

description: Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


aerobic Actinomyces infection

description: Infection with the less common aerobic antinomyces bacteria.


name: prostate cancer/brain cancer susceptibility


agnathia-otocephaly complex

description: Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.


name: autosomal dominant nonsyndromic hearing loss 66

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.


isolated optic neuritis

description: A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.


name: mandibulofacial dysostosis with mental deficiency


hymen, imperforate, non-human animal

description: Hymen, imperforate that occurs in non-human animals.


acromesomelic dysplasia

description: A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type


primary basilar invagination

description: Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.


name: deafness, congenital heart defects, and posterior embryotoxon


19p13.12 microdeletion syndrome

description: 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


glomerulonephritis, domestic cat

description: Glomerulonephritis that occurs in domestic cat.


Adams-Oliver syndrome 5

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.


name: conductive deafness-ptosis-skeletal anomalies syndrome

description: Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.


mosquito-borne viral encephalitis

description: Viral encephalitis that is transmitted by mosquitos.


body-stalk anomaly

description: A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.


name: autosomal recessive nonsyndromic hearing loss 42

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


name: lissencephaly 9 with complex brainstem malformation


spermatogenic failure 5

description: Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


coloboma, snow leopard

description: Coloboma that occurs in snow leopard.


nephronophthisis 14

description: Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.


name: oral-facial-digital syndrome with short stature and brachymesophalangy

description: A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.


congenital bronchobiliary fistula

description: Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.


name: neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


leukocyte disorder

description: A disease involving leukocytes.


name: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


11p15.4 microduplication syndrome

description: 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.


name: Ullrich congenital muscular dystrophy 1A


primary syphilis

description: The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.


malignant tumor of adrenal cortex

description: A cancer that involves the adrenal cortex.


name: autosomal recessive spinocerebellar ataxia 11

description: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.


vibratory angioedema

description: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


dystonia 23

description: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


desmoplastic spitz nevus

description: A Spitz nevus associated with fibrous stroma formation.


name: Ehlers-Danlos syndrome, musculocontractural type 2

description: Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.


distal trisomy 5q

description: Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).


tooth resorption

description: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)


name: circadian rhythm sleep disorder, advanced sleep phase type

description: A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.


cataract 1 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.


toluene embryopathy

description: Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.


Davenport-Donlan syndrome

description: An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.


MRI defined brain infarct

description: An infarct detected by MRI and not determined to be clinically significant


name: transient neonatal multiple acyl-CoA dehydrogenase deficiency

description: Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


Oroya fever

description: An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.


name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome


name: chondroectodermal dysplasia with night blindness

description: Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.


familial hyperaldosteronism type II

description: Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.


name: developmental and epileptic encephalopathy, 3

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


Juberg-Hayward syndrome

description: Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.


name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant


name: autosomal dominant childhood-onset proximal spinal muscular atrophy


osteogenesis imperfecta type 3

description: Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


name: osteopenia-intellectual disability-sparse hair syndrome

description: Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.


description: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.


name: erythrokeratodermia variabilis et progressiva 1


name: congenital heart defects and ectodermal dysplasia


hereditary spastic paraplegia 52

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome

description: Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.


root resorption

description: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)


classic congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.


microform holoprosencephaly

description: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.


orofaciodigital syndrome III

description: Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.


temporal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)


description: Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.


name: split-hand/foot malformation with long bone deficiency 1


Billet Bear syndrome

description: A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.


pulmonary artery leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.


pulmonary nodular lymphoid hyperplasia

description: Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.


3MC syndrome

description: 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.


environmental induced asthma

description: An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.


methemoglobin reductase deficiency

description: Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.


description: X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.


vesicoureteral reflux 2

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


name: T-cell childhood acute lymphocytic leukemia

description: An acute lymphoblastic leukemia of T-cell origin occurring in children.


herpes simplex infectious disease

description: A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)


cardiac valvular dysplasia, X-linked

description: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


name: macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance


name: Schistosoma japonicum infectious disease

description: An infection that is caused by Schistosoma japonicum.


Achard-Thiers syndrome

description: Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women


gingival disorder

description: A disease involving the gingiva.


herpes zoster with dermatitis of eyelid

description: A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.


melanotic medulloblastoma

description: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.


atrial septal defect, cattle

description: Atrial septal defect that occurs in cattle.


name: autosomal dominant cerebellar ataxia type I

description: Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


name: myopathy, centronuclear, 6, with fiber-type disproportion


drug-induced methemoglobinemia

description: Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).


faciodigitogenital syndrome

description: A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.


name: congenital insensitivity to pain with hyperhidrosis


dislocation of ear ossicle

description: Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.


name: mannose 6-phosphate receptor recognition defect, Lebanese type


name: porencephaly-microcephaly-bilateral congenital cataract syndrome


combined ApoA-I and ApoC-III deficiency

description: A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.


name: Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined


elephantiasis

description: Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.


noma

description: Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.


name: complete atrioventricular canal-ventricle hypoplasia syndrome


lymphatic malformation 4

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


urban-Rogers-Meyer syndrome

description: This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.


name: palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

description: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.


name: intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism


ulnar hemimelia

description: Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.