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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01887 |
3MC syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome |
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including ... | Congenital malformation | |
| H01888 | Carpenter syndrome | Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur ... | Congenital malformation | |
| H01889 |
Meier-Gorlin syndrome Ear-patella-short statute syndrome |
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ... | Congenital malformation | |
| H01890 |
Pattern dystrophies of the retinal pigment epithelium Patterned macular dystrophy Butterfly-shaped macular dystrophy |
Patterned macular dystrophy (MDPT) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition ... | Nervous system disease | |
| H01891 | Autosomal recessive spinocerebellar ataxias | Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... | Neurodegenerative disease | |
| H01892 | Peripheral T cell lymphoma | Peripheral T cell lymphomas (PTCLs) are a group of rare lymphomas originating from mature (i.e., post-thymic or "peripheral") T lymphocytes and NK cells. With regard to the current WHO classification, ... | Cancer | |
| H01893 |
Lateral meningocele syndrome Lehman syndrome |
Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft ... | Congenital malformation | |
| H01894 | Multiple mitochondrial dysfunctions syndrome | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01895 | Attention deficit hyperactivity disorder (ADHD) | Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized ... | Mental and behavioural disorder | |
| H01896 | Aplasia cutis congenita | Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous ... | Congenital malformation | |
| H01897 | Oocyte/zygote/embryo maturation arrest | Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... | Reproductive system disease | |
| H01898 | PNPLA6-related disorders | PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper ... | Nervous system disease | |
| H01899 | Dyslexia | Dyslexia is defined by severe difficulties in reading acquisition, often accompanied by spelling difficulties and affects a large number of people (5-10%). It is caused by multiple genetic and environmental ... | Mental and behavioural disorder | |
| H01900 | Encephalopathy due to defective mitochondrial and peroxisomal fission | Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) is a very rare lethal disorder characterized by cerebral dysgenesis, hypotonia, seizures, lactic acidosis, elevated very long ... | Inherited metabolic disorder | |
| H01901 | Barrett esophagus | Barrett esophagus (BE) is the premalignant lesion of esophageal adenocarcinoma (EAC) defined as specialized intestinal metaplasia (SIM) of the tubular esophagus. According to some studies, the incidence ... | Digestive system disease | |
| H01902 | Brittle cornea syndrome | Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of ... | Congenital malformation | |
| H01903 | Brown-Vialetto-Van Laere syndrome | Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded ... | Neurodegenerative disease | |
| H01904 |
Microphthalmia with linear skin defects syndrome Linear skin defects with multiple congenital anomalies MIDAS syndrome |
Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with ... | Congenital malformation | |
| H01905 | Trichomegaly | Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial ... | Skin disease | |
| H01906 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are ... | Congenital malformation | |
| H01907 | Acid-labile subunit deficiency | Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene ... | Endocrine and metabolic disease | |
| H01908 | Carey-Fineman-Ziter syndrome | Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other ... | Congenital malformation | |
| H01909 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic ... | Inherited metabolic disorder | |
| H01910 | Infantile myofibromatosis | Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 ... | Neoplasm | |
| H01911 | Syndromic autosomal recessive mental retardation | Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive ... | Mental and behavioural disorder | |
| H01912 |
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi CLOVE syndrome |
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose ... | Congenital malformation | |
| H01913 | Renpenning syndrome | Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly ... | Congenital malformation | |
| H01914 | Christianson syndrome | Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent ... | Congenital malformation | |
| H01915 | Borjeson-Forssman-Lehmann syndrome | Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ... | Congenital malformation | |
| H01916 | Stocco dos Santos X-linked mental retardation syndrome | Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short ... | Congenital malformation | |
| H01917 | CK syndrome | CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral ... | Congenital malformation | |
| H01918 | Familial autosomal recessive hypercholesterolemia | Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias ... | Inherited metabolic disorder | |
| H01919 | Proud syndrome | Proud syndrome is a syndromic X-linked mental retardation, characterized by agenesis of the corpus callosum, and abnormal genitalia. ARX is considered to have an important role in neuronal proliferation ... | Congenital malformation | |
| H01920 | Partington syndrome | Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis ... | Nervous system disease | |
| H01921 |
MICPCH syndrome Syndromic X-linked mental retardation, Najm type |
Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly ... | Congenital malformation | |
| H01922 | Infantile hypotonia with psychomotor retardation and characteristic facies | Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment ... | Congenital malformation | |
| H01923 | Microcephaly, short stature, and impaired glucose metabolism | Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation ... | Congenital malformation | |
| H01924 |
Sydenham chorea Chorea minor |
Sydenham chorea is a disabling pediatric hyperkinetic and neuropsychiatric disorder following streptococcal infection. Sydenham chorea occurs in approximately 10% of acute rheumatic fever and is one of ... | Immune system disease; Nervous system disease | |
| H01925 | Transient neonatal zinc deficiency | Transient neonatal zinc deficiency (TNZD) is a disorder caused by loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently ... | Inherited metabolic disorder | |
| H01926 | Ventricular septal defect | Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital ... | Cardiovascular disease |
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