| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Developmental cataract |
OMIM:618808 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Synophrys, Abnormal rib morphology, Thick eyebrow, Pectus carinatum |
ORPHA:3268 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism |
OMIM:612526 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis |
OMIM:603552 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Renal insufficiency, Short tho... |
ORPHA:474 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Thoracic dysplasia, Narrow chest, Ho... |
OMIM:615633 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cataract, Hypospadias, Pectus excavatum, Abnormal rib mo... |
ORPHA:3242 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal rib morphology, Iris coloboma |
ORPHA:195 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest |
ORPHA:1801 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, N... |
OMIM:617575 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ... |
ORPHA:2457 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Abnormal rib morphology |
ORPHA:2643 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Metatropic Dysplasia |
|
Abnormal rib morphology, Cataract, Long thorax, Narrow chest |
ORPHA:2635 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Cataract, Abnormal rib morphology, Narrow chest |
ORPHA:93267 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Abnormal rib morphology |
ORPHA:2772 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Generalized hirsutism |
ORPHA:363400 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hirsutism |
OMIM:604367 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Ectopic kidney, Low posterior hairline |
ORPHA:2578 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
| Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Prominent floating ribs, Neonatal hypoproteinemia |
OMIM:152800 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Werner Syndrome |
|
Alopecia of scalp, Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Renal insufficiency, Pig... |
OMIM:203800 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Synophrys, Abnormality of the ureter, Microcornea, Hypercholesterolemia |
ORPHA:819 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology |
ORPHA:2790 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Synophrys, Hypertriglyceridemia |
OMIM:182290 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pectu... |
ORPHA:98855 |
| Alagille Syndrome 1 |
|
Cataract, Hypertriglyceridemia, Band keratopathy, Multiple small medullary renal cysts, Abnormal ... |
OMIM:118450 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, H... |
ORPHA:528 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Abnormal rib morphology, Narrow chest, Hypospadias |
ORPHA:1703 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cataract, Flaring of lower rib cage, Cupped r... |
ORPHA:168549 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... |
ORPHA:79432 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pectu... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pectu... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pectu... |
ORPHA:98853 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Abnormal rib morphology, Pectus... |
ORPHA:3082 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| White Forelock With Malformations |
|
Sprengel anomaly, White forelock, Abnormal rib morphology |
ORPHA:2475 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Enlarged kidney, Corneal arcus, Micr... |
ORPHA:168569 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Subcapsular cataract, Abnormal circulating creatine kinase concentration, Hypertriglyce... |
ORPHA:98907 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
| Trisomy 13 |
|
Cataract, Abnormal eyelash morphology, Abnormal rib morphology, Abnormality of the ureter, Aplasi... |
ORPHA:3378 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Abnormal fingernail morphology, Missing ribs, Abnormal rib morphology,... |
ORPHA:1647 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Becker Nevus Syndrome |
|
Hypermelanotic macule, Supernumerary nipple, Pectus excavatum, Rib fusion, Pectus carinatum, Supe... |
ORPHA:64755 |
| Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Pectus excavatum, Ocular albinism, Blue irides, Hypopigmented ski... |
OMIM:611584 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, Nail dystrophy, Small nail, Hypercholesterolemia |
OMIM:610644 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Generalized hirsutism, Abnormality of the nail |
ORPHA:2348 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology, Low posterior hairline |
ORPHA:2345 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decr... |
OMIM:618156 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides, Hypospadias |
OMIM:614613 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Sparse body hair |
ORPHA:2234 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions |
OMIM:187760 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia |
ORPHA:31150 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Pectus excavatum, Abnormality of the ureter, Abnormal ... |
ORPHA:2522 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Hypertriglyceridemia, Alopecia, Pectus excavatum, Shoulder dislocation, Kerat... |
ORPHA:536532 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Generalized hirsutism |
ORPHA:79083 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Missing ribs, Abnormal rib morphology, Microcornea, Iris ... |
ORPHA:3301 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Short ribs, Opacification of the corn... |
OMIM:252600 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... |
ORPHA:363618 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Pectus excavatum, Hypercalciuria, Renal cyst, Nephrocalcinos... |
ORPHA:369837 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Pectus excavatum, Abnormal rib mo... |
ORPHA:2970 |
| Acquired Generalized Lipodystrophy |
|
Generalized hyperpigmentation, Proteinuria, Hypertriglyceridemia, Abnormal circulating lipid conc... |
ORPHA:79086 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Broad rib... |
ORPHA:2519 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Alopecia, Cataract, Abnormal eyebrow morphology, Absent eyel... |
ORPHA:90153 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Hypoplastic toenails, Thin clavicles,... |
OMIM:228520 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Hypospadias, Highly arched eyebrow, Abnormal rib morphology, Horsesh... |
ORPHA:2319 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
| Hypophosphatasia |
|
Hypercalcemia, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Femoral-Facial Syndrome |
|
Long penis, Rib fusion, Abnormal rib morphology, Polycystic kidney dysplasia, Sprengel anomaly |
ORPHA:1988 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology, Unilateral renal agenesis, Low posterior hairline |
OMIM:118100 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hypopigmentation of the skin, Elevated ... |
OMIM:615980 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Hypertriglyceridemia, Abno... |
ORPHA:79474 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... |
ORPHA:540 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Bell-shap... |
OMIM:614857 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail pits, Fine hair, Abnormali... |
OMIM:308300 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Generalized hirsutism, Premature g... |
ORPHA:280365 |
| Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Beaded ribs |
OMIM:259440 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Pectus excavatum, Sparse eyebrow, Thi... |
OMIM:619127 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... |
ORPHA:2021 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Sparse body hair, Pectus carinatum |
ORPHA:3068 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Abnormal rib morphology |
ORPHA:2145 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
| Cenani-Lenz Syndrome |
|
Cataract, Abnormal rib morphology, Absent fingernail, Crossed fused renal ectopia, Absent toenail |
ORPHA:3258 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Hirsutism, Hypertrich... |
OMIM:252930 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2180 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal rib morphology, Hypopigmented skin patches, Narrow chest, Vesicouretera... |
ORPHA:96061 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... |
ORPHA:79240 |
| Axial Mesodermal Dysplasia Spectrum |
|
Missing ribs, Abnormality of the ureter, Abnormal rib morphology, Renal cyst, Limbal dermoid, Hyd... |
ORPHA:1834 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hirsutism |
OMIM:613327 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... |
ORPHA:163934 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Rib fusion, Low posterior hairline, Coarse hair, Narrow chest, ... |
ORPHA:1394 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Cataract, Hypospadias, Abnormality of hair textur... |
ORPHA:96169 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Cafe-au-lait spot, Hypo... |
OMIM:618541 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Short thorax, Abnormal rib morphology, Pectus carinatum, Mucopolysacchariduria |
ORPHA:582 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... |
ORPHA:264580 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Short thorax, Narrow chest |
ORPHA:93299 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Hypospadias, Short thorax, Rib fusion, Abnormal rib morphology, A... |
ORPHA:2311 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hypospadias |
ORPHA:456328 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Abnormal rib morphology, Abnormality o... |
ORPHA:52 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Hyperlipidemia, Stage 5 chronic kidney disease, Progressive clavicular ac... |
OMIM:608612 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion |
OMIM:609813 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Hypoplastic toenails, Short thorax, Abnormal rib morphology, Congen... |
ORPHA:261344 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypoplastic scapulae, Hypertriglyceridemia, Elevated cir... |
OMIM:256040 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Metatropic Dysplasia |
|
Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage |
OMIM:156530 |
| Gracile Bone Dysplasia |
|
Aniridia, Micropenis, Hypocalcemia, Thin ribs |
OMIM:602361 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Renal insufficiency, Ocular albinism, Melan... |
ORPHA:79430 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:93324 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Hypospadias, Beaded ribs, Short ribs, Micropenis, Hydronephrosis, Thoraci... |
OMIM:616897 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short ribs, Anterior polar ca... |
OMIM:250420 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Nephrolithiasi... |
ORPHA:79259 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Mildly elevated creatine kinase |
ORPHA:1145 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ... |
OMIM:200600 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Cataract, Alopecia, Sparse eyelashes, Hy... |
OMIM:264090 |
| Melnick-Needles Syndrome |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Vesicoureteral reflux, Hydr... |
ORPHA:2484 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hirsutism |
OMIM:151660 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ureteral stenosis, Ocular albinism, Iris hyp... |
ORPHA:2719 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Conjunctivitis |
OMIM:617591 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal hair morphology, Hyperlipidem... |
ORPHA:90154 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Cataract, Polyuria, Developmental cataract, Pigmentary r... |
OMIM:606721 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Abnormal rib morphology, Hypopigmented... |
ORPHA:2907 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Nonketotic hyperglycinemia, Generalized hirsutism, Popliteal pterygium, ... |
ORPHA:1300 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Beaded ribs |
OMIM:166210 |
| 3M Syndrome |
|
Scapular winging, Thick eyebrow, Hypospadias, Short thorax, Thin ribs, Enlarged thorax, Horizonta... |
ORPHA:2616 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Cupped ribs, Ectopia pupillae, Lens subluxa... |
ORPHA:85167 |
| Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation, Hyperlipidemia, Abnormality of urine homeostasis |
ORPHA:1414 |
| Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Cataract, Shoulder flexion contracture, Elevated circulating creatin... |
ORPHA:800 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Glycosuria |
OMIM:617253 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Corneal opacity, Abnormal rib morphology, Abnormality of skin pigme... |
ORPHA:93473 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... |
ORPHA:275761 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Proteinuria, Minimal change glomerulonephritis, Hyperlipi... |
ORPHA:1830 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Abnormal rib morphology, Hyperconvex fingernails, Abnormal circulating creatine... |
ORPHA:2215 |
| Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1488 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Br... |
OMIM:304150 |
| Mucopolysaccharidosis Type 6 |
|
Broad ribs, Mucopolysacchariduria, Opacification of the corneal stroma |
ORPHA:583 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Thin ribs |
OMIM:618265 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cataract, Corneal opacity, Thick hair, Heparan sulfate excretion in... |
ORPHA:581 |
| Mucopolysaccharidosis, Type Iva |
|
Pectus carinatum, Prominent sternum, Flaring of rib cage, Opacification of the corneal stroma, Ch... |
OMIM:253000 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax |
OMIM:613686 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Pectus excavatum, Sparse eyebrow, Thin ribs, Fine ... |
OMIM:234100 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology |
ORPHA:1486 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le... |
ORPHA:534 |
| Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Prominent sternum, Opacification of the corneal stroma, Flaring of rib cage, Cho... |
OMIM:253010 |
| Cantú Syndrome |
|
Curly eyelashes, Low anterior hairline, Low posterior hairline, Long eyelashes, Narrow chest, Bro... |
ORPHA:1517 |
| Aspergillosis |
|
Keratitis, Abnormal rib morphology |
ORPHA:1163 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Low anterior hairline, Thin ribs, Prominent sternum, Thoracic kyphosis, Thi... |
OMIM:300232 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Down-sloping shoulders, Hyperlipidemia, Progressive clav... |
OMIM:248370 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology |
ORPHA:1836 |
| Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormal thorax morphology, Abnormal rib morphology, Multiple renal... |
ORPHA:1318 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Corneal crystals, Renal tubular dysfunction,... |
ORPHA:411629 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Ketonuria, Glycosuria |
ORPHA:2089 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Highly arched eyebrow, Supernumerary nipple, Pectus excavatum, Poliosis, Synophrys, Unilateral re... |
OMIM:213980 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias |
OMIM:300219 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Pectus carinatum, Short ribs, Nail dysplasia, Narrow chest, Horizontal ribs |
OMIM:225500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Lateral clavicle hook, Conjugated hyperbilirubinemia, Chronic k... |
OMIM:208500 |
| Otopalatodigital Syndrome Type 2 |
|
Cataract, Hypospadias, Developmental glaucoma, Abnormal rib morphology, Hydronephrosis, Narrow ch... |
ORPHA:90652 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavic... |
ORPHA:1452 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Abnormal rib morphology, Microcornea, Hydronephros... |
ORPHA:3380 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, P... |
ORPHA:239 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Ectopic kidney, Abnormal pupil morphology... |
ORPHA:233 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Down-sloping shoulders, Abnormal sternum morphology, Short ribs, Bifid ribs, Supernumer... |
OMIM:109400 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Nephrolithiasis, Dermatan sulfate excretion in urine, Broad ribs |
OMIM:619698 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Nephrolithiasis, Thin ribs, Narrow chest, Broad ribs,... |
OMIM:613848 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
| Phaver Syndrome |
|
Pterygium, Abnormal rib morphology |
ORPHA:2876 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Ectopic kidney, Abnormality of th... |
ORPHA:887 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Hypospadias, Sclerocornea, Missing ribs, Rib fusion, Supernumerary ribs, Micropenis |
OMIM:206900 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Broad ribs |
OMIM:277600 |
| Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Micropenis, Hypospadias, Thin ribs |
ORPHA:171430 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... |
ORPHA:189427 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Pectus excavatum, Rib fusion, Antecubital pterygium, Low ... |
ORPHA:2990 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
| Poland Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Renal hypo... |
ORPHA:2911 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
| Three M Syndrome 2 |
|
Thin ribs, Scapular winging, Short thorax, Pectus carinatum |
OMIM:612921 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs |
OMIM:300863 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Cataract, Corneal opacity, Hypertriglyceridemia, Hypospadias, Synophrys, Wide ... |
ORPHA:3455 |
| Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Mildly elevated creatine kinase, Thin ribs |
ORPHA:169189 |
| Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Frontal hirsutism, Long clavicles, Thin ribs |
OMIM:608149 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib, Enl... |
OMIM:618188 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia |
OMIM:151210 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hypertriglyceridemia, Elevated hemoglobin A1c, Hirsutism |
OMIM:269700 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Flaring of lower rib cage, Sparse eyebrow, Short thorax, Abn... |
ORPHA:175 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,... |
OMIM:242840 |
| Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Hypoplastic scapulae, Glenoid fossa hypoplasia, Sclerocornea, Latera... |
OMIM:600920 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Nephrolithiasis, Hirsutism |
OMIM:608594 |
| Xylt1-Cdg |
|
Broad ribs, Synophrys, Short clavicles, Hirsutism |
ORPHA:370930 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Rib fusion, Post... |
OMIM:611209 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Phimosis, Abnormal rib morphology, Neoplasm of the urethra, ... |
ORPHA:2908 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Thin ribs |
OMIM:312150 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Renal hypoplasia, Abnormality of iron homeostasis, Polycy... |
ORPHA:84064 |
| Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Thin ribs |
OMIM:615368 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Thin ribs, Corneal stromal edema, Cervical ribs, Sparse hair |
OMIM:601812 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Thin ribs, Rib osteolysis, Progres... |
OMIM:614008 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Short ribs, Hydronephrosis |
OMIM:271520 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Hypoplasia of penis, Multicystic kidney dysplasia, Sclerocorn... |
ORPHA:818 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Abnormal rib morphology, Hyperuricemia, Thick eyebrow |
ORPHA:2769 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Short ribs, Horizontal ribs |
OMIM:200610 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Thick eyebrow, Heparan sulfate excretion in urine, Synophrys,... |
OMIM:252940 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Enlarged kidney, Short ribs, Polycystic kidney dyspla... |
OMIM:613091 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Hyperconvex nail, Lateral clavicle hook, Flat glenoid fossa, Pectus ... |
OMIM:224690 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short thorax, Renal hypoplasia, Thoracic dysplasia, Short ribs, Narrow ches... |
OMIM:269860 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Thin ribs |
OMIM:253290 |
| Greenberg Dysplasia |
|
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... |
OMIM:215140 |
| Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:83 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... |
ORPHA:439232 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Hypercalcemia, Abnormal rib morphology, Large cafe-au-lait macules ... |
ORPHA:249 |
| Myhre Syndrome |
|
Abnormal penis morphology, Cataract, Hypospadias, Epispadias, Abnormal rib morphology |
ORPHA:2588 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly |
ORPHA:958 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Ectopic kidney... |
OMIM:117650 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Elevated circulating C-reactive protein concentration, Flaring of rib cage |
OMIM:612852 |
| Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Narrow chest, Beaded ribs |
OMIM:616229 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Narrow chest, Polycystic... |
OMIM:263520 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Penile hypospadias, Narrow chest, Thin ribs |
ORPHA:73230 |
| Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Corneal opacity, Cataract, Highly arched eyebrow, Pectus excavatum, Pectus carina... |
ORPHA:309282 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Hydronephrosis, Thoracic hypoplasia |
ORPHA:254528 |
| Dysosteosclerosis |
|
Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis |
OMIM:224300 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Curly hair |
ORPHA:85184 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thin ribs |
OMIM:617397 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Renal hypoplasia, Renal cyst, Bell-shaped thorax, Short ribs, Narrow chest, Horiz... |
OMIM:616300 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Synophrys, Low posterior hairline, Thin ribs, Hirsutism |
ORPHA:2463 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs |
OMIM:609616 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Micropenis, Hypo... |
OMIM:176270 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:1120 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal cyst, Thin ribs, Small nail, Opacification of the cornea... |
OMIM:229850 |
| Monosomy 9Q22.3 |
|
Pectus excavatum, Cataract, Abnormal rib morphology |
ORPHA:77301 |
| Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Dermatan sulfate excretion in urine, Pectus carinatum, Prominent sternum, Broad ... |
OMIM:253200 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Hy... |
OMIM:232200 |
| Kbg Syndrome |
|
Epispadias, Synophrys, Rib fusion, Low anterior hairline, Low posterior hairline, Cervical ribs, ... |
OMIM:148050 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
| Congenital Myopathy 22B, Severe Fetal |
|
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavatum, Synophrys, ... |
OMIM:620369 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Long clavicles, Hypospadias, Down-sloping shoulders, Rib fusion, Neck pterygia, Antecubital ptery... |
OMIM:265000 |
| Osteogenesis Imperfecta, Type Xviii |
|
Long eyelashes, Thin ribs |
OMIM:617952 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Pterygium, Thoracic hypoplasia |
OMIM:211350 |
| Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Hydroureter, Distal urethral duplication, Ectopic kidney, R... |
OMIM:146510 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Down-sloping shoulders, Widow's peak, Coarse hair |
ORPHA:1974 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology |
ORPHA:3035 |
| Fabry Disease |
|
Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P... |
ORPHA:324 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypospadias, Sclerocornea, Highly arched eyebrow, Abnormal thorax... |
ORPHA:280 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Micropenis, Abnormal rib morphology, Symblepharon, Thick eyebrow |
ORPHA:488434 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs |
OMIM:608940 |
| Aicardi Syndrome |
|
Cataract, Missing ribs, Rib fusion, Supernumerary ribs, Bifid ribs, Sparse lateral eyebrow |
OMIM:304050 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Ureteral stenosis, Hyperconvex nail, Hypospadias, Hydroureter, Hypoplasia of firs... |
OMIM:269150 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs |
OMIM:616294 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Sclerosteosis 1 |
|
Broad ribs, Nail dysplasia, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Hypoplastic scapulae, Hypospadias, Increased circulating co... |
ORPHA:95699 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Low posterior hairline, Long thorax, Narrow chest, Short ribs, Micropenis,... |
OMIM:617925 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Hypertrichosis |
OMIM:230500 |
| Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Hydroureter, Coat hanger sign of ribs, Hydronephrosis, Hirsutism |
OMIM:305620 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Hy... |
OMIM:232220 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Sparse scalp hair, Short nail, Ectopia lentis, Cupped ribs, Abnormal rib cage m... |
OMIM:271640 |
| Menkes Disease |
|
Hypopigmentation of hair, Pectus excavatum, Bladder diverticulum, Narrow chest, Sparse hair, Wool... |
ORPHA:565 |
| Holzgreve Syndrome |
|
Abnormal rib morphology |
ORPHA:2167 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
| Acrocapitofemoral Dysplasia |
|
Short nail, Pectus excavatum, Cupped ribs, Broad nail, Pectus carinatum, Short ribs, Narrow chest |
OMIM:607778 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs |
ORPHA:163966 |
| Monosomy 9P |
|
Hypospadias, Thin nail, Highly arched eyebrow, Synophrys, Abnormal rib morphology, Low posterior ... |
ORPHA:261112 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal rib morphology |
ORPHA:1666 |
| Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Missing ribs, Rib fusion, Abnormality of skin pigmentation, ... |
ORPHA:50 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Blotching pigmentation of the skin, Opacification of the corneal stroma, Thin ribs |
OMIM:601559 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis |
ORPHA:398079 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs |
OMIM:259420 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Absent nipple, Missing ribs, Abnormality of the ureter, Thin ribs, Narrow c... |
OMIM:200980 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the costochondral junction, Cataract |
ORPHA:79345 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, Supernumerary ribs |
OMIM:182212 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Rib fusion |
ORPHA:261197 |
| Cole-Carpenter Syndrome |
|
Abnormal rib morphology |
ORPHA:2050 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
| Lethal Congenital Contracture Syndrome 10 |
|
Broad ribs, Thoracic scoliosis, Narrow chest |
OMIM:617022 |
| Osteogenesis Imperfecta |
|
Multiple rib fractures, Corneal opacity, Pectus excavatum, Abnormal rib morphology, Nephrolithias... |
ORPHA:666 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormal rib morphology |
ORPHA:3015 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Thin ribs, Microcornea, Bladder diverticulum, Decreased urinary lysyl-pyridinoline-h... |
OMIM:225400 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, ... |
OMIM:619488 |
| Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Sparse eyelashes, Pectus excavatum, Sparse eyebrow, Renal cyst, Short ribs, ... |
OMIM:613610 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Myopic astigmatism, Hypopigmentation of the skin, Synophrys |
OMIM:301066 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs |
OMIM:618395 |
| Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Frontal hirsutism, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254519 |
| Autosomal Recessive Robinow Syndrome |
|
Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Pectus excavatum, Rib fusion, Pectus... |
ORPHA:1507 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis |
ORPHA:398069 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Abnormal rib morphology, Hypocalcemia, Narrow chest, Hypophosphatemia |
ORPHA:667 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Missing ribs, Pectus excavatum, Rib fusion, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Sm... |
OMIM:268310 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Micropenis |
OMIM:241080 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Abnormal eyebrow morphology, Hypoplasia of penis, Cataract, Hypospadias, Rib fu... |
ORPHA:1606 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ... |
ORPHA:1662 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplastic clavicle, Epispadias, Abnormal rib morphology, Breast ... |
ORPHA:2554 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Pectus excavatum, Abnormality of the ... |
ORPHA:96334 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Pectus excavatum, Undulate ribs, Antecubital pterygium, Horseshoe kidney, Popliteal ... |
OMIM:609945 |
| Bent Bone Dysplasia Syndrome 2 |
|
Micropenis, Short sternum, Short ribs, Thin ribs |
OMIM:620076 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Enlargement of the costochondral junction, Renal phosphate wasting, Hypocalciuria, H... |
ORPHA:89936 |
| Alström Syndrome |
|
Thoracic scoliosis, Hypertriglyceridemia, Cataract, Detrusor sphincter dyssynergia, Frontal baldi... |
ORPHA:64 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horseshoe kidney, Short ribs, Nail dysplasia, Narrow chest, Short clavicles, Horizontal ribs |
OMIM:617088 |
| Myhre Syndrome |
|
Cataract, Fine hair, Sparse hair, Broad ribs, Thick eyebrow |
OMIM:139210 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Short na... |
OMIM:114290 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Renal insufficiency, Urethral valve, Ectopic kidney, ... |
ORPHA:857 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Rib fusion, Micropenis, Nail dysplasia, Small nail, W... |
ORPHA:97360 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Xanthelasma, Focal segmental glomeru... |
OMIM:232240 |
| Zttk Syndrome |
|
Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Rib fusion, Horseshoe kidney, Ce... |
OMIM:617140 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Broad clavicles, Chordee, Sparse hair, Broad ribs |
OMIM:151050 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Pectus excavatum, Straight clavicles, Thoracolumbar kyphosis, Broad... |
OMIM:300373 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Pectus excavatum, Proximal renal tubular acid... |
ORPHA:2785 |
| Craniometadiaphyseal Dysplasia |
|
Broad ribs |
OMIM:269300 |
| Pyknoachondrogenesis |
|
Enlarged thorax, Short thorax, Short ribs, Horizontal ribs |
ORPHA:3003 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion |
OMIM:614688 |
| Charge Syndrome |
|
Highly arched eyebrow, Abnormal rib morphology, Horseshoe kidney, Hydronephrosis, Vesicoureteral ... |
ORPHA:138 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal thorax morphology, Abnormality of the ureter,... |
ORPHA:798 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Rieger anomaly, Hypospadias, Highly arched eyebrow, Rib fusion, A... |
OMIM:194190 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Abnormal rib morphology |
ORPHA:991 |
| Eiken Syndrome |
|
Broad ribs |
OMIM:600002 |
| Vater/Vacterl Association |
|
Hypospadias, Ectopic kidney, Abnormal rib morphology, Abnormal sternum morphology, Patent urachus... |
OMIM:192350 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal rib morphology, Renal hypoplasia, Thin ribs, Short sternum, S... |
ORPHA:3404 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Heparan sulfate excretion i... |
ORPHA:217085 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Thin ribs |
OMIM:610915 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Heparan sulfate excretion i... |
ORPHA:217093 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest |
OMIM:250220 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Cataract, Hypospadias, Ectopic kidney, Synophrys, Rib fusion, Horizontal eyebro... |
OMIM:607872 |
| Charge Syndrome |
|
Cataract, Down-sloping shoulders, Abnormal rib morphology, Renal hypoplasia, Horseshoe kidney, Hy... |
OMIM:214800 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Thin ribs, Coarse hair, Micropenis, Hydronephrosis |
ORPHA:83617 |
| Aromatase Deficiency |
|
Hyperlipidemia, Generalized hirsutism |
ORPHA:91 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs |
OMIM:618019 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad ribs, Mydriasis |
OMIM:619727 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow, Micropenis |
ORPHA:3464 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Hypospadias, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Pe... |
OMIM:276820 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hypocalcemic seizures |
OMIM:612301 |
| Osteogenesis Imperfecta, Type Vii |
|
Pectus excavatum, Multiple rib fractures, Narrow chest, Hydronephrosis |
OMIM:610682 |
| Femoral-Facial Syndrome |
|
Missing ribs, Rib fusion, Micropenis, Polycystic kidney dysplasia, Sprengel anomaly |
OMIM:134780 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Unilateral renal agenesis, Sparse eyebrow, Rib fusion, Horseshoe kidney, Cervical rib... |
ORPHA:500150 |
| Coccidioidomycosis |
|
Broad ribs, Renal insufficiency |
ORPHA:228123 |
| Baller-Gerold Syndrome |
|
Astigmatism, Rib fusion |
OMIM:218600 |
| Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Rib fusion, Horseshoe kidney |
OMIM:157800 |
| Cog1-Cdg |
|
Rib fusion, Posterior rib gap |
ORPHA:263508 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thoracic hypoplasia, Thin ribs |
OMIM:208150 |
| Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Rib fusion, Nail dysplasia, Micropenis |
ORPHA:672 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Renal artery stenosis |
ORPHA:391665 |
