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Entry Name Description Category Pathway
H00764 Chromosme 5p deletion syndrome
Cri du chat syndrome
Cat cry syndrome
The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry ... Chromosomal abnormality
H00765 Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened ... Congenital malformation
H00766 Wolcott-Rallison syndrome Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during ... Endocrine and metabolic disease
H00767 SEMD, Matrilin type
Spondyloepimetaphyseal dysplasia
SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism ... Congenital malformation
H00768 Autosomal recessive mental retardation Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Although X-linked MR has been extensively studied, and over ... Mental and behavioural disorder
H00769 Hyperekplexia
Startle disease
Hyperekplexia, also known as startle disease, is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterized by neonatal hypertonia and an exaggerated ... Nervous system disease
H00770 Congenital myasthenic syndrome Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation ... Nervous system disease
H00771 Inherited erythromelalgia
Primary erythromelalgia
Inherited erythromelalgia (IEM) is characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait ... Vascular disease
H00772 Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEPD) is a autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. ... Nervous system disease
H00773 Autosomal dominant mental retardation
Autosomal dominant intellectual developmental disorder
Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most MR genes identified so far were either located on the X ... Mental and behavioural disorder
H00774 Congenital insensitivity to pain Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP ... Nervous system disease
H00775 Hemiplegic migraine Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree ... Nervous system disease
H00776 Congenital motor nystagmus (CMN)
Idiopathic congenital nystagmus (ICN)
Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occur independent of these known ocular or systemic diseases is referred to as congenital motor ... Nervous system disease
H00777 SEMD, short limb-hand type
SEMD, short limb-abnormal calcification type
Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition ... Congenital malformation
H00778 Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. The fusion ... Congenital malformation
H00779 Usher syndrome (US) Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity ... Nervous system disease
H00780 Atrichia with papular lesions Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations ... Skin disease
H00781 Schopf-Schulz-Passarge syndrome
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis
Schopf-Schulz-Passarge syndrome is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis ... Congenital malformation
H00782 Hypotrichosis and recurrent skin vesicles Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated ... Skin disease
H00783 Febrile seizures Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile ... Nervous system disease
H00784 Localized autosomal recessive hypotrichosis Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs ... Skin disease
H00785 Congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration ... Congenital malformation
H00786 Hypotrichosis Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HSS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... Skin disease
H00787 Congenital stationary night blindness Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal ... Nervous system disease
H00788 Hoyeraal-Hreidarsson syndrome
X-linked dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome is a severe variant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar ... Ribosomopathy
H00789 Keratoconus Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. Nervous system disease
H00790 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
KLICK syndrome
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre ... Congenital malformation
H00791 Disseminated superficial actinic porokeratosis (DSAP) Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most ... Congenital malformation
H00792 Warburg micro syndrome Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism ... Congenital malformation
H00793 Poikiloderma with neutropenia Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and ... Skin disease
H00794 Aromatase excess syndrome Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal ... Endocrine disease
H00795 Seborrhea-like dermatitis with psoriasiform element Seborrhea-like dermatosis with psoriasiform elements is a chronic dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration ... Skin disease
H00796 Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the ... Congenital malformation
H00797 Martsolf syndrome Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone ... Congenital malformation
H00798 Familial carpal tunnel syndrome Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with ... Nervous system disease
H00799 CEDNIK syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations ... Congenital malformation
H00800 Loeys-Dietz syndrome Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent ... Congenital malformation
H00801 Familial thoracic aortic aneurysm and dissection
Aortic aneurysm familial thoracic type (AAT)
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single ... Cardiovascular disease
H00802 Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other ... Congenital malformation
H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
SeSAME/EAST syndrome
Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte ... Nervous system disease
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