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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00883 |
Lipoid proteinosis Urbach-Wiethe disease |
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and ... | Congenital malformation | |
| H00884 | Familial progressive hyperpigmentation | Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules ... | Skin disease | |
| H00885 |
Hypomelanosis of Ito Pigmentary mosaicism |
Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system ... | Skin disease | |
| H00886 |
Donnai-Barrow syndrome Faciooculoacousticorenal syndrome |
Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial ... | Congenital malformation | |
| H00887 | Lipoprotein glomerulopathy | Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually ... | Inherited metabolic disorder | |
| H00888 | Nephrolithiasis/osteoporosis, hypophosphatemic | Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired ... | Urinary system disease | |
| H00889 |
Lujan-Fryns syndrome X-linked mental retardation with Marfanoid habitus |
Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow ... | Congenital malformation | |
| H00890 | Azoospermia | Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia ... | Reproductive system disease | |
| H00891 | Combined oxidative phosphorylation deficiency | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00892 | Bronchiectasis with or without elevated sweat chloride | Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown ... | Respiratory system disease | |
| H00893 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) is a recently reported autosomal dominant phenotype of Carvajal syndrome [DS:H02094] associated with leukonychia and oligodontia | Congenital malformation | |
| H00894 |
FG syndrome Opitz-Kaveggia syndrome |
FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity ... | Congenital malformation | |
| H00895 |
Basal cell nevus syndrome Nevoid basal cell carcinoma syndrome Gorlin syndrome |
Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic ... | Congenital malformation | |
| H00896 | Lymphangioleiomyomatosis | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of ... | Respiratory system disease | |
| H00897 | Pontocerebellar hypoplasia | Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... | Congenital malformation | |
| H00898 |
Myopathy with lactic acidosis and sideroblastic anaemia Mitochondrial myopathy and sideroblastic anemia |
Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. MLASA has been associated with ... | Inherited metabolic disorder | |
| H00899 | Lysinuric protein intolerance | Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by ... | Inherited metabolic disorder | |
| H00900 | Geleophysic dysplasia | Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, ... | Congenital malformation | |
| H00901 | Cystinuria | Cystinuria is an inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary ... | Inherited metabolic disorder | |
| H00902 | Speech-language disorder 1 | Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized ... | Mental and behavioural disorder | |
| H00903 |
Congenital clubfoot Congenital talipes equinovarus |
Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation ... | Congenital malformation | |
| H00904 |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Urban-Rifkin-Davis syndrome |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial ... | Congenital malformation | |
| H00905 | Iminoglycinuria | Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex ... | Inherited metabolic disorder | |
| H00906 |
Macrocephaly, alopecia, cutis laxa, and scoliosis MACS syndrome |
Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity ... | Congenital malformation | |
| H00907 |
Kleefstra syndrome Chromosome 9q34.3 deletion syndrome 9q Subtelomeric deletion syndrome |
Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra ... | Congenital malformation | |
| H00908 | Mowat-Wilson syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung ... | Congenital malformation | |
| H00909 | Cleft palate with ankyloglossia | Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female ... | Congenital malformation | |
| H00910 | Hirschsprung disease | Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying ... | Congenital malformation | |
| H00911 | Dicarboxylic aminoaciduria | Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino ... | Inherited metabolic disorder | |
| H00912 |
Tumor necrosis factor receptor-associated periodic syndrome Familial periodic fever |
The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile ... | Immune system disease | |
| H00913 |
Brain-lung-thyroid syndrome Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia ... | Endocrine and metabolic disease | |
| H00914 | Warsaw breakage syndrome | Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1 ... | Congenital malformation | |
| H00915 |
Tuberous sclerosis complex Bourneville-Pringle disease |
Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the ... | Congenital malformation | |
| H00916 | Congenital central hypoventilation syndrome | Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic ... | Nervous system disease | |
| H00917 | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid ... | Hematologic disease | |
| H00918 | Double-outlet right ventricle | Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal ... | Cardiovascular disease | |
| H00919 | Arterial tortuosity syndrome | Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers ... | Congenital malformation | |
| H00920 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00921 |
Revesz syndrome Dyskeratosis congenita, autosomal dominant 5 Exudative retinopathy with bone marrow failure |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation ... | Congenital malformation | |
| H00922 | Schinzel-Giedion midface retraction syndrome | Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, ... | Congenital malformation |
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