|
|
2-hydroxyglutaric aciduria +
abdominal obesity-metabolic syndrome +
Acroosteolysis dominant type
ADAR-related type 1 interferonopathy +
Aicardi-Goutieres syndrome +
apolipoprotein c-III deficiency
aromatase excess syndrome
arterial tortuosity syndrome
ASAH1-related disorders +
autoimmune interstitial lung disease-arthritis syndrome
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
autoinflammatory disease, systemic, with vasculitis
autoinflammatory disease, X-linked
autoinflammatory syndrome +
autoinflammatory syndrome with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like +
autosomal dominant dopa-responsive dystonia +
autosomal dominant hypophosphatemic rickets
autosomal dominant myoglobinuria
autosomal dominant proximal renal tubular acidosis
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive proximal renal tubular acidosis
autosomal systemic lupus erythematosus type 16
bone fragility with contractures, arterial rupture, and deafness
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
chondrocalcinosis 2 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).
chondrodysplasia with joint dislocations, gPAPP type
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
congenital disorder of deglycosylation +
congenital disorder of glycosylation +
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
deficiency of adenosine deaminase 2 +
dermatofibrosarcoma protuberans
Desmoid-type fibromatosis +
diaphyseal medullary stenosis-bone malignancy syndrome
disorder of lysosomal-related organelles +
disorder of metabolite absorption and transport +
disorder of peptide and amine metabolism +
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, spondylodysplastic type +
EMILIN-1-related connective tissue disease
encephalocraniocutaneous lipomatosis
familial chilblain lupus +
familial hypocalciuric hypercalcemia +
familial hypocalciuric hypercalcemia 1
familial hypoparathyroidism +
familial intrahepatic cholestasis +
familial isolated pituitary adenoma +
ferro-cerebro-cutaneous syndrome
gluthathione peroxidase deficiency
glycoprotein metabolism disease +
hemolytic anemia due to diphosphoglycerate mutase deficiency
hereditary hypophosphatemic rickets with hypercalciuria
hereditary lipodystrophy +
hereditary multiple osteochondromas +
hereditary periodic fever syndrome +
hereditary recurrent myoglobinuria +
hypercalcemia, infantile +
hypermanganesemia with dystonia +
hyperparathyroidism 2 with jaw tumors
hyperparathyroidism, transient neonatal
hypoalphalipoproteinemia, primary, 1
hypophosphatemic rickets, autosomal recessive, 2
hypophosphatemic rickets, X-linked recessive
hypotonia-failure to thrive-microcephaly syndrome
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
inborn aminoacylase deficiency +
inborn carbohydrate metabolic disorder +
inborn disorder of amino acid and other organic acid metabolism +
inborn disorder of amino acid metabolism +
inborn disorder of biogenic amine metabolism and transport +
inborn disorder of energy metabolism +
inborn disorder of porphyrin metabolism +
inborn disorder of purine or pyrimidine metabolism +
inborn glycerol kinase deficiency +
inborn metal metabolism disorder +
infantile myofibromatosis +
inherited acute myeloid leukemia
inherited lipid metabolism disorder +
inherited thyroid metabolism disease +
intermittent hydrarthrosis
jugulotympanic paraganglioma +
juvenile hyaline fibromatosis
juvenile idiopathic arthritis +
lysosomal storage disease +
Marfan and Marfan-related disorder +
mixed connective tissue disease +
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple epiphyseal dysplasia type 4
multiple symmetric lipomatosis
NAD(P)HX dehydratase deficiency
neonatal inflammatory skin and bowel disease +
neonatal severe primary hyperparathyroidism
neurodegeneration with brain iron accumulation +
normophosphatemic familial tumoral calcinosis
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
Pelger-Huet-like anomaly and episodic fever with abdominal pain
plasma protein metabolism disease +
progeria-associated arthropathy
progeroid and marfanoid aspect-lipodystrophy syndrome
proteosome-associated autoinflammatory syndrome +
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
rheumatic disease of mitral valve
rheumatic pulmonary valve disease
RNU7-1-related type 1 interferonopathy +
Singleton-Merten dysplasia +
Spondyloenchondrodysplasia with immune dysregulation
spondyloepimetaphyseal dysplasia, PAPSS2 type
spondyloepiphyseal dysplasia with congenital joint dislocations
STING-associated vasculopathy with onset in infancy
sulfation-related bone disorder
sulfide quinone oxidoreductase deficiency
tenosynovial giant cell tumor, diffuse type
thiopurine metabolic disease +
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
tumoral calcinosis, hyperphosphatemic, familial, 2
tumoral calcinosis, hyperphosphatemic, familial, 3
vitamin D-dependent rickets, type 1A
vitamin metabolic disorder +
Waldenstrom macroglobulinemia
X-linked dominant hypophosphatemic rickets
X-linked reticulate pigmentary disorder
|
|
