| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Myosclerosis, Autosomal Recessive |
|
Spinal rigidity, Facial palsy, Distal muscle weakness, Short stature, Thoracolumbar scoliosis, Ac... |
OMIM:255600 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619528 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Scoliosis, Distal muscle weakness, Short stature, Hip contracture, Muscle weakness, Lumbar hyperl... |
OMIM:619042 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 50 |
|
Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 63 |
|
Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Spondylolisthesis at L5-S1, Bulbar palsy, Limb muscle weakness, Short stature, Atl... |
OMIM:600561 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Spermatogenic Failure 25 |
|
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617960 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Gowers sign, Hyperlordosis, Distal muscle weakness, Flexion contracture, Proximal muscle weakness... |
ORPHA:363454 |
| Spermatogenic Failure 30 |
|
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia |
OMIM:618110 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Rigid Spine Syndrome |
|
Poor head control, Spinal rigidity, Neck muscle weakness, Gowers sign, Scoliosis, Hyperlordosis, ... |
ORPHA:97244 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak... |
OMIM:300718 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... |
ORPHA:40 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Congenital foot contractures, Scoliosis, Short stature, Hip contracture, Knee flexion contracture... |
OMIM:602484 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Diaphragmatic weakness, Distal lower limb muscle weakness, Hyperlordosis |
OMIM:607088 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis, Distal muscle weakness, Respiratory insufficiency due to muscle weaknes... |
OMIM:611067 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Congenital Myopathy 16 |
|
Spinal rigidity, Scoliosis, Distal muscle weakness, Axial muscle weakness, Flexion contracture, P... |
OMIM:618524 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis,... |
OMIM:600175 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Generalized muscle weakness, Gowers sign, Flexion contracture, Proximal muscle weakness, Lumbar h... |
OMIM:613723 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Poor head control, Gowers sign, Scoliosis, Hyperlordosis, Slender build, Achilles tendon contract... |
OMIM:620389 |
| Nemaline Myopathy 7 |
|
Kyphoscoliosis, Neck muscle weakness, Knee flexion contracture, Gowers sign, Shoulder girdle musc... |
OMIM:610687 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ... |
OMIM:620085 |
| Brachyolmia Type 1, Toledo Type |
|
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... |
OMIM:271630 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abduction, Irregular ... |
OMIM:609223 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Gowers sign, Hyperlordosis, Achilles tendon contracture, Thoracic scoliosis, Proximal muscle weak... |
ORPHA:62 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Gowers sign, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Proximal muscle ... |
OMIM:617404 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Late-onset distal muscle weakness, Generalized muscle weakness, Bulbar palsy, Sc... |
OMIM:161800 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis, Osteoporosis, Cryptorchidism |
ORPHA:408 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619949 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Ankle flexion contracture, Generalized muscle weakness, Hyperlordosis, Elbow fle... |
ORPHA:267 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Distal lower limb muscle weakness, Bulbar palsy, Gowers sign, Scoliosis, Hyperlordosis, Kyphosis,... |
OMIM:615290 |
| Osteomesopyknosis |
|
Low back pain, Infertility, Increased bone mineral density |
OMIM:166450 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Gowers sign, Ankle flexion contracture, Lumbar hyperlordosis |
ORPHA:280333 |
| Myopathy, Centronuclear, 2 |
|
Gowers sign, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Distal muscle weakness, Axial musc... |
OMIM:255200 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:143860 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gowers sign, Hyperlordosis, Progressive external ophthalmoplegia, Limb-girdle muscle weakness, Sl... |
ORPHA:352470 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Generalized muscle weakness, Thoracic kyphosis, Elbow flexion contracture, Thoracic scoliosis, Pr... |
ORPHA:206546 |
| Myopathy, Scapulohumeroperoneal |
|
Progressive muscle weakness, Scoliosis, Hyperlordosis, Facial palsy, Achilles tendon contracture,... |
OMIM:616852 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Spinal rigidity, Cachexia, Hyperlordosis, Limitation of joint mobility, Axial ... |
ORPHA:157973 |
| Myasthenic Syndrome, Congenital, 5 |
|
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Scoliosis, Hyperlordosis, ... |
OMIM:603034 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Gowers sign, Ankle flexion contracture, Limb-girdle muscle weakness, Lumbar hyperlordosis |
OMIM:613818 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ... |
OMIM:617872 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Reduced bone mineral density, Scoliosis, Hyperlordosis, Disproportionate short stature |
ORPHA:2501 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
OMIM:618433 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Proximal muscle weakness, Hyperlordosis, Arthrogryposis multiplex congenita, Distal muscle weakness |
OMIM:162370 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... |
ORPHA:2777 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia |
ORPHA:35710 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
| Familial Anetoderma |
|
Lumbar hyperlordosis, Generalized joint hypermobility |
ORPHA:228277 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Mucolipidosis Type Iii |
|
Reduced bone mineral density, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, H... |
ORPHA:577 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Generalized muscle weakness, Bulbar palsy, Scoliosis, Facial palsy, Failure to thrive, Respirator... |
OMIM:255310 |
| Myopathy, Centronuclear, 1 |
|
External ophthalmoplegia, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakn... |
OMIM:160150 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Gowers sign, Hyperlordosis, Progressive external ophthalmoplegia, Slender build, Muscle weakness,... |
OMIM:615156 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Spinal rigidity, Joint stiffness, Limb-girdle muscle weakness, Flexion contracture, Lumbar hyperl... |
OMIM:609308 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
| Myopathy, Distal, 1 |
|
Distal lower limb muscle weakness, Neck muscle weakness, Scoliosis, Facial palsy, Distal muscle w... |
OMIM:160500 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Ankle flexion contracture, Scoliosis, Hyperlordosis, Distal muscle weakness, Proximal muscle weak... |
OMIM:617760 |
| Pure Mitochondrial Myopathy |
|
Fatigable weakness of bulbar muscles, Gowers sign, Scoliosis, Shoulder girdle muscle weakness, Di... |
ORPHA:254854 |
| Bethlem Muscular Dystrophy |
|
Spinal rigidity, Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Di... |
ORPHA:610 |
| Nemaline Myopathy 2 |
|
Spinal rigidity, Late-onset distal muscle weakness, Generalized muscle weakness, Bulbar palsy, Sc... |
OMIM:256030 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Poor head control, Fatigable weakness, Gowers sign, Scoliosis, Facial palsy, Distal muscle weakne... |
ORPHA:353327 |
| Myasthenic Syndrome, Congenital, 14 |
|
Fatigable weakness, Gowers sign, Scoliosis, Hyperlordosis, Distal joint hypermobility, Limb-girdl... |
OMIM:616228 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Decreased testicul... |
ORPHA:3085 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Paget disease of bone, Progressive proximal muscle weakness, Facial palsy, Shoulder girdle muscle... |
OMIM:167320 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Progressive muscle weakness, Gowers sign, Hyperlordosis, Flexion contra... |
OMIM:611588 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Ankle flexion contracture, Generalized muscle weakness, Foot joint contracture, S... |
ORPHA:536516 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Diastrophic Dysplasia |
|
Kyphoscoliosis, Neonatal short-limb short stature, Disproportionate short-limb short stature, Sco... |
OMIM:222600 |
| Hypochondroplasia |
|
Childhood onset short-limb short stature, Abnormal form of the vertebral bodies, Scoliosis, Hyper... |
ORPHA:429 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Slender build, Joint hyper... |
OMIM:300831 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal muscle weakness, Back pain, Hyperlordosis, Abdominal wall muscle weakness |
OMIM:618129 |
| Anauxetic Dysplasia 2 |
|
Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Short stature, Ovoid ver... |
OMIM:617396 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the vertebral column,... |
ORPHA:99642 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
OMIM:614736 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Hyperlordosis, Fatigable weakness |
OMIM:614198 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... |
ORPHA:435387 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... |
OMIM:232700 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Failure to thrive, Hypokalemia |
OMIM:602722 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Generalized muscle weakness, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Achilles tendon co... |
OMIM:606612 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... |
ORPHA:93284 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Limited elbow extension, Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:610313 |
| Myotonia Permanens |
|
Hyperlordosis, Limitation of joint mobility, Short stature, Ophthalmoplegia, Muscle weakness, Oph... |
ORPHA:99735 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Disproportionate short-limb short stature, Lumbar hyperlordosis, Short s... |
ORPHA:156728 |
| Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis |
OMIM:303350 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... |
ORPHA:98798 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis |
OMIM:616756 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal cortical bone morphology, Hyperlordosis, Foot acroosteolys... |
ORPHA:970 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ... |
ORPHA:1159 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Postnatal growth retardation, Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-s... |
OMIM:313400 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Failure to thrive, Hyponatremia, Hypomagnesemia, Di... |
OMIM:613845 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Infertility, Oligozoospermia, Azoospermia |
OMIM:615703 |
| Central Diabetes Insipidus |
|
Failure to thrive, Hyponatremia, Weight loss |
ORPHA:178029 |
| Typical Nemaline Myopathy |
|
Spinal rigidity, Fatigable weakness of respiratory muscles, Scoliosis, Hyperlordosis, Facial dipl... |
ORPHA:171436 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck muscle weakness, Progressive muscle weakness, Generalized muscle weakness, Scoliosis, Hyperl... |
OMIM:620249 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... |
OMIM:179800 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... |
OMIM:620103 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Scoliosis, Camptodactyly, Failure to thrive, Hypoplasia of the odontoid process, Seve... |
OMIM:264180 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Disproportionate short stature, Scoliosis, Hyperlordosis, Short stature, Obesity,... |
OMIM:618363 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Kyphoscoliosis, Childhood-onset short-trunk short stature, Arthritis, Hypoplasia of the odontoid ... |
OMIM:184100 |
| Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Splenomegaly, Abnormal ... |
OMIM:617514 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... |
ORPHA:261529 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Spermatogenic Failure 2 |
|
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia |
OMIM:108420 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Limited elbow extension, Disproportionate short-limb short stature, ... |
ORPHA:750 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia |
OMIM:218030 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scoliosis, Hyperlordosis, ... |
OMIM:620285 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Proximal muscle weakness, Pelvic... |
OMIM:607155 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delayed menarche, Fema... |
ORPHA:52901 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:264350 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Pathologic fracture, Abnormality of the vertebral column, Hyperlordosis, Calvarial hyperostosis, ... |
ORPHA:52430 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis, Failure to thrive, Severe short stature, Intrauterine growth retardation |
OMIM:617352 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Proximal muscle weakness, Gowers sign, Hyperlordosis |
OMIM:613157 |
| King-Denborough Syndrome |
|
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Bilateral cryptorchidism, Failure to thrive, Joint ... |
OMIM:619542 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short stature, Premature osteoarthritis, Hip osteoarthritis, Lumbar hyperlordosis |
OMIM:165800 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia |
OMIM:620423 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Limitation of joint mobility, Hyperlordosis, Anemia, Cryptorchidism |
ORPHA:1192 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hypoglycemia, Hyperammo... |
ORPHA:6 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Severe short statu... |
ORPHA:1797 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Disproportionate short stature, Abnormal vertebral morphology, General... |
ORPHA:93352 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Generalized muscle weakness, Scoliosis, Hyperlordosis, Facial palsy, Flexion contracture, Proxima... |
OMIM:613156 |
| Fanconi-Bickel Syndrome |
|
Rickets, Increased serum bile acid concentration, Hypokalemia, Fasting hypoglycemia, Hypouricemia... |
OMIM:227810 |
| Myopathy, Myofibrillar, 7 |
|
Spinal rigidity, Shoulder flexion contracture, Scoliosis, Thoracic kyphosis, Facial palsy, Elbow ... |
OMIM:617114 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration |
OMIM:614817 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Joint stiffness, Scoliosis, Lumbar hyperlordosis, Mild short stature |
OMIM:618167 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Hypokalemia |
OMIM:611590 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Hypokalemia |
OMIM:267200 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Delayed pubic bone ossification, Disproportionate short-limb short stature, Scoliosis, Hyperlordo... |
OMIM:184250 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... |
ORPHA:324575 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Spinal rigidity, Gowers sign, Scoliosis, Triceps weakness, Limb-girdle muscle weakness, Proximal ... |
ORPHA:86812 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchidism |
ORPHA:1387 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... |
ORPHA:2114 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... |
ORPHA:91348 |
| Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia |
ORPHA:681 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Diaphragmatic weakness, Peroneal muscle weakness, Gowers sign, Scoliosis, Hyperlordosis, Facial p... |
OMIM:181405 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hypoglycemic seizures |
ORPHA:199296 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Scoliosis, Upper limb muscle weakness, Achilles tendon contracture, Neck flexor weak... |
ORPHA:353 |
| Steel Syndrome |
|
Limited elbow extension, Scoliosis, Short stature, Lumbar hyperlordosis, Carpal synostosis |
OMIM:615155 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia, Joint hypermobility, Elevat... |
OMIM:223360 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Kyphoscoliosis, External genital hypoplasia, Flexion contracture of digit, Hyperextensibility of ... |
ORPHA:3041 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis, Short stature |
ORPHA:63446 |
| Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Decreased body weight, Short stature, Growth delay, Jo... |
OMIM:614205 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Ck Syndrome |
|
Kyphoscoliosis, Joint hypermobility, Slender build, Lumbar hyperlordosis |
ORPHA:251383 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... |
ORPHA:682 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Gowers sign, Scoliosis, Hyperlordosis, Hamstring contractures, Respirat... |
OMIM:310200 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Progressive muscle weakness, Gowers sign, Hyperlordosis, Growth delay, Failure t... |
OMIM:600462 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... |
OMIM:620366 |
| Hypochondroplasia |
|
Limited elbow extension, Disproportionate short-limb short stature, Widened interpedicular distan... |
OMIM:146000 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia |
OMIM:214700 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscle weakness, Proximal muscle weakness, Abdominal obesity, Lumbar hyperlordosis, Lower limb mu... |
OMIM:615980 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
| Thoracomelic Dysplasia |
|
Joint hypermobility, Short neck, Hyperlordosis, Disproportionate short-limb short stature |
ORPHA:1803 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Osteomalacia |
OMIM:134600 |
| Cystinosis |
|
Rickets, Hypokalemia, Failure to thrive, Hypophosphatemia, Type I diabetes mellitus |
ORPHA:213 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia |
ORPHA:48 |
| Three M Syndrome 1 |
|
Postnatal growth retardation, Increased vertebral height, Spina bifida occulta, Hyperlordosis, In... |
OMIM:273750 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Scoliosis, Hyperlordosis, Vertebral segmentation defect, Synostosis of carpal bones, Joint stiffn... |
ORPHA:1323 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Autosomal Recessive Centronuclear Myopathy |
|
Progressive muscle weakness, Gowers sign, Facial diplegia, Hyperlordosis, Facial palsy, Hip contr... |
ORPHA:169186 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Proximal muscle weakness in upper limbs, Decreased cervical spine flexion due to... |
ORPHA:98863 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia, Recurrent hypoglycemia |
OMIM:620357 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:615761 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Disproportionate short stature, Scoliosis, Delayed ossification of c... |
OMIM:609616 |
| Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Hypoglycemia, Failure to thrive, Hyponatremia, ... |
ORPHA:199299 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Osteoarthritis, Disproportionate short-trunk short s... |
OMIM:271650 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia |
ORPHA:446 |
| Arthrogryposis, Distal, Type 3 |
|
Kyphoscoliosis, Scoliosis, Decreased hip abduction, Camptodactyly of toe, Thoracolumbar scoliosis... |
OMIM:114300 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Short neck, Abnormal reticulocyte... |
ORPHA:2522 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Breast hypoplasia, Small pituitary gland, Agonadism, Infertility, Impotence, Osteopor... |
ORPHA:2232 |
| Wieacker-Wolff Syndrome |
|
Congenital foot contractures, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Camptodactyly, Sh... |
OMIM:314580 |
| Mucolipidosis Iii Gamma |
|
Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finger joint contr... |
OMIM:252605 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Proximal muscle weakness in upper limbs, Decreased cervical spine flexion due to... |
ORPHA:98855 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kyphoscoliosis, Abnormal vertebral morphology, Increased vertebral height, Hyperlordosis, Cryptor... |
OMIM:616817 |
| Desbuquois Dysplasia 1 |
|
Joint hypermobility, Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Kyphosi... |
OMIM:251450 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Obesity, Hypercalcemia, Craniosynostosis, Recurrent fractures |
ORPHA:251004 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Proximal muscle weakness in upper limbs, Decreased cervical spine flexion due to... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Proximal muscle weakness in upper limbs, Decreased cervical spine flexion due to... |
ORPHA:98853 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... |
ORPHA:93314 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Kyphoscoliosis, Flexion contracture of toe, Shoulder flexion contracture, Quadriceps muscle weakn... |
OMIM:255800 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Scoliosis, Hyperlordosis, Flexion contracture |
OMIM:253700 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Joint hypermobility, Scoliosis, Hyperlordo... |
OMIM:253000 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Facial palsy, Limitation of joint mobility, Short statu... |
ORPHA:3068 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Scoliosis, Short stature, Ovoid vertebral bodies, Joint hypermobility, Craniosynostosis, Lumbar h... |
OMIM:619451 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Weight loss, Ost... |
OMIM:619381 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Spinal rigidity, Proximal muscle weakness in upper limbs, Distal upper li... |
ORPHA:268 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Thoracic kyphosis, Bilateral crypto... |
OMIM:242900 |
| Atelosteogenesis, Type Ii |
|
Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae, Platyspond... |
OMIM:256050 |
| Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:231111 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Obe... |
ORPHA:247353 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonata... |
ORPHA:1667 |
| Cap Myopathy |
|
Poor head control, Gowers sign, Facial palsy, Thoracic scoliosis, Fatiguable weakness of proximal... |
ORPHA:171881 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Cervical instability, Scol... |
ORPHA:94068 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Hyperlordosis |
ORPHA:369840 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Failure to thrive, Hyponatremia, Weigh... |
ORPHA:361 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral compression fracture, Joint hypermobility, Delayed epiphyseal ossification, Disproporti... |
OMIM:602557 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Flexion contract... |
ORPHA:2020 |
| Mirage Syndrome |
|
Hyperkalemia, Radial club hand, Decreased body weight, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Impaired glucose tolerance, Osteoporosis, Obesity, Abdominal obesity, Glucose intole... |
OMIM:219090 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypogonadi... |
ORPHA:432 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... |
OMIM:241520 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Failure to thrive, Hyponatremia |
OMIM:620157 |
| Anauxetic Dysplasia 1 |
|
Limited elbow extension, Rhizomelia, Joint hypermobility, Delayed ossification of carpal bones, T... |
OMIM:607095 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Hypokalemia |
OMIM:604278 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Joint hypermobility, Cryptorchidism, Micropenis, Lumbar hyper... |
OMIM:619185 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... |
OMIM:183900 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Glycosuria, Small for gestational age |
ORPHA:97362 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis, Failure to thrive, Hypoglycemia |
ORPHA:369 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Arthrogryposis, Distal, Type 5D |
|
Hypermobility of distal interphalangeal joints, Limited elbow movement, Scoliosis, Hyperlordosis,... |
OMIM:615065 |
| Alg8-Cdg |
|
Failure to thrive, Hyponatremia, Small for gestational age, Camptodactyly |
ORPHA:79325 |
| Spermatogenic Failure 14 |
|
Male infertility, Round spermatid arrest, Azoospermia |
OMIM:615842 |
| Osteootohepatoenteric Syndrome |
|
Reduced bone mineral density, Increased serum bile acid concentration, Hypokalemia, Failure to th... |
OMIM:619377 |
| Mucopolysaccharidosis Type 4 |
|
Reduced bone mineral density, Joint hypermobility, Scoliosis, Hyperlordosis, Kyphosis, Short stat... |
ORPHA:582 |
| Addison Disease |
|
Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Hypoglycemia, Increased circulati... |
ORPHA:85138 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Limited elbow extension, Childhood onset short-limb short stature, D... |
OMIM:177170 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Amen... |
ORPHA:3130 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Lead Poisoning |
|
Abnormal T cell morphology, Cranial hyperostosis, Anemia, Decreased male libido, Decreased female... |
ORPHA:330015 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Spinal rigidity, Generalized muscle weakness, Scoliosis, Hyperlordosis, Osteoporosis,... |
OMIM:613327 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Failure to thrive, Hyponatremia, ... |
ORPHA:95409 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Immunodeficiency 15B |
|
Failure to thrive, Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Dia... |
OMIM:616026 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Scoliosis, Limb muscle weakness, Distal muscle weakness, Proximal muscle weakness, Lumbar hyperlo... |
OMIM:601152 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Butterfly vertebrae, Scoliosis, Hyperlordosis, Limited knee extension, S... |
OMIM:618870 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Failure to thrive, Hypona... |
ORPHA:90791 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia |
OMIM:613090 |
| 3M Syndrome |
|
Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Joint hypermobilit... |
ORPHA:2616 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Spina bifida occulta, Increased bone mineral density, Scoliosis, Hyperlordosis, Fa... |
ORPHA:2780 |
| Adrenal Hypoplasia, Congenital |
|
Azoospermia, Oligozoospermia, Precocious puberty, Failure to thrive, Cryptorchidism, Hypogonadotr... |
OMIM:300200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Failure to thrive, Hyponatremia... |
OMIM:603553 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Hyperlordosis, Decreased body weight, Short stature, Hypoplasia of the o... |
OMIM:615222 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
| Cohen Syndrome |
|
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Leukopeni... |
OMIM:216550 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Delayed puberty, Lumbar kyphosis, Bilateral camptodactyly, Short stature, Back pain, Growth delay... |
OMIM:619234 |
| Achondroplasia |
|
Limited elbow extension, Cervical spinal canal stenosis, Disproportionate short stature, Rhizomel... |
ORPHA:15 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Scoliosis, Proportionate short stature, Short stature, Irregular vertebral endplates, Mild short ... |
OMIM:156500 |
| Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Spondylolysis, Spondylolisthesis, Increase... |
ORPHA:763 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
ORPHA:90790 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion |
ORPHA:313892 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea,... |
OMIM:614837 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis, Severe short stature |
ORPHA:2511 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Intellectual Disability And Myopathy Syndrome |
|
Limited elbow extension, Scoliosis, Achilles tendon contracture, Lumbar hyperlordosis |
OMIM:619719 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypoglycemia, Increased blood urea nitrogen, Insulin resistance, Elevated circu... |
ORPHA:230 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, ... |
ORPHA:2848 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hyperlordosis, Kyphosis, Osteoporosis, Joint stiffness, Ovoid vertebral bodies, Hypopl... |
OMIM:253010 |
| Hartsfield Syndrome |
|
Craniosynostosis, Hypernatremia |
OMIM:615465 |
| Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Joint stiffness, Failu... |
ORPHA:354 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Over... |
OMIM:617796 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Disproportionate short-limb short stature, Osteosclerosis of ribs,... |
ORPHA:174 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Multiple joint contractures |
OMIM:128100 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short stature, Severe short stature, Intrauterine growth retardation, Short neck, ... |
OMIM:612921 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Glycosuria, Hypophospha... |
ORPHA:411634 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Rhizomelia, Abnormal form of the vertebral bodies |
ORPHA:2831 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... |
ORPHA:168558 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short stature, Short neck, Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:3218 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... |
ORPHA:289548 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating go... |
ORPHA:8 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Cachexia, Hypomagnesemia, Hypokalemia |
OMIM:175500 |
| Corticosteroid-Binding Globulin Deficiency |
|
Reduced circulating cortisol-binding globulin concentration, Hypokalemia |
OMIM:611489 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Camurati-Engelmann Disease |
|
Anemia, Abnormality of the vertebral column, Hyperostosis, Cachexia, Scoliosis, Hyperlordosis, Li... |
ORPHA:1328 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Massively thic... |
ORPHA:1798 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Increased susceptibility to fractures, Abnormal bone ossification, Biconvex vertebral bodies, Abn... |
ORPHA:93315 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Whipple Disease |
|
Cachexia, Hyponatremia, Arthritis, Insulin resistance |
ORPHA:3452 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kypho... |
ORPHA:2789 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Spermatogenic Failure 13 |
|
Male infertility, Azoospermia |
OMIM:615841 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Obesity, Hyponatremia, Tracheomalacia |
OMIM:620155 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Hypokalemia, Failure to thrive, Glycosuria, Hypophosphatemia, Abnormal blood ion concent... |
ORPHA:411629 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Thoracic kyphosis, Lumbar hyperlordosis |
OMIM:619467 |
| 3Mc Syndrome |
|
Postnatal growth retardation, Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, L... |
ORPHA:293843 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
| Otospondylomegaepiphyseal Dysplasia |
|
Disproportionate short stature, Abnormal vertebral morphology, Limitation of joint mobility, Abno... |
ORPHA:1427 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hyperlordosis, Osteoporosis, Irregular tarsal ossification, Short stature, Hypoplasia of the odon... |
OMIM:226980 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Disproportionate short-limb short stature, Ovoid vertebral bodies, Platy... |
OMIM:608728 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Cervical spinal canal stenosis, Delayed epiphyseal ossification, Scoliosis, Hyperlord... |
OMIM:616007 |
| Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... |
OMIM:219800 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Blue Diaper Syndrome |
|
Increased body weight, Increased proinsulin:insulin ratio, Hypercalcemia, Recurrent hypoglycemia,... |
ORPHA:94086 |
| Jansen-De Vries Syndrome |
|
Short stature, Hyperlordosis |
OMIM:617450 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
| Oculoskeletodental Syndrome |
|
Short stature, Scoliosis, Hyperlordosis, Thoracic kyphosis |
ORPHA:557003 |
| Alg12-Cdg |
|
Abnormal bone ossification, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hypoglycemi... |
ORPHA:79324 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Kyphoscoliosis, Juvenile rheumatoid arthritis, Increased intervertebral space, Scoliosis, T lymph... |
OMIM:607944 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration |
OMIM:154230 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint hypermobility, Short neck, Rhizomelia, Lumbar hyperlordosis |
ORPHA:171866 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Hyperlordosis, Short stature, Failure to thrive, Joint hypermobility |
OMIM:300986 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia |
OMIM:617913 |
| Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility |
OMIM:617821 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... |
OMIM:613095 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Fail... |
ORPHA:1830 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Failure to thrive, Hyponatremia, Small for gestational age |
OMIM:618252 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
| Immunodeficiency 102 |
|
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... |
OMIM:301082 |
| Pfeiffer Syndrome |
|
Short stature, Short neck, Hyperlordosis, Synostosis of carpal bones |
ORPHA:710 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Postnatal growth retardation, Multicentric ossification of proximal ... |
OMIM:223800 |
| Mody |
|
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Abnormal circulating C-pep... |
ORPHA:552 |
| Bartter Syndrome Type 4 |
|
Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Failure ... |
ORPHA:89938 |
| Shigellosis |
|
Arthritis, Hyponatremia, Abnormal blood ion concentration, Failure to thrive in infancy, Hypoglyc... |
ORPHA:810 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia, Septic arthritis, Abscess |
OMIM:612260 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Joint contracture, Delayed ossification of pubic rami, Scapulohumeral synostosis, Cryptorchidism,... |
OMIM:602471 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Scoliosis, Cutaneous abscess, Lymphopenia, Joint hypermobility, Reduced natural killer cell count... |
OMIM:619752 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Joint hypermobility, Platyspondyly, Short neck, Lumbar hyperlordosis |
OMIM:612813 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... |
OMIM:250250 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Diabetes mellitus, Increased body weight, Weight loss |
ORPHA:1501 |
| Ring Chromosome 12 Syndrome |
|
Breast hypoplasia, Glandular hypospadias, Cryptorchidism, Symphalangism of the thumb, Uterine lei... |
ORPHA:1439 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Increased vertebral height, Pancytopenia, Thoracic kyphoscoliosis, Campt... |
OMIM:613385 |
| Chromosome 10Q26 Deletion Syndrome |
|
Limited elbow extension, Craniosynostosis, Small scrotum, Short neck, Cryptorchidism, Micropenis,... |
OMIM:609625 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... |
ORPHA:251510 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Scoliosis, Hyperlordosis, Posterior scalloping of vertebral bodies, ... |
OMIM:619698 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| East Syndrome |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
ORPHA:199343 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Scoliosis, Hyperlordosis, Kyphosis, Short stature, Thoracolumbar scoliosis, Obesity |
OMIM:618443 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Limited elbow extension, Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hy... |
OMIM:618019 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Short stature, Coronal cleft vertebrae, Lumbar hyperlordosis, Flexio... |
OMIM:215150 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev... |
OMIM:229070 |
| Acromesomelic Dysplasia 1 |
|
Beaking of vertebral bodies, Limited elbow extension, Disproportionate short-limb short stature, ... |
OMIM:602875 |
| Schwartz-Jampel Syndrome |
|
Spinal rigidity, Flexion contracture of toe, Increased bone mineral density, Cachexia, Scoliosis,... |
ORPHA:800 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased circulating renin level, Fail... |
OMIM:601678 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Diaphragmatic weakness, Fatigable weakness of respiratory muscles, Generalized muscle weakness, G... |
ORPHA:365 |
| Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Failure to thrive, Foot joint contracture |
ORPHA:90321 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Cervical spinal canal stenosis, Limited elbow movement, Sacral dimple, Decreased proportion of CD... |
ORPHA:508533 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Limited elbow extension, Craniosynostosi... |
ORPHA:457395 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... |
ORPHA:79102 |
| Fucosidosis |
|
Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v... |
OMIM:230000 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Osteopenia, Limited elbow extension, Rhizomelia, Disproportionate short-limb shor... |
OMIM:271510 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Rheumatoid ... |
ORPHA:49041 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Abnormal bone ossification, Biconvex vertebral bodies, Anemia, Sacral di... |
ORPHA:175 |
| Gapo Syndrome |
|
Abnormal form of the vertebral bodies, Oligozoospermia, Decreased skull ossification, Dysmenorrhe... |
ORPHA:2067 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Desbuquois Dysplasia 2 |
|
Postnatal growth retardation, Joint hypermobility, Severe short stature, Platyspondyly, Short nec... |
OMIM:615777 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Immunodeficiency 54 |
|
Failure to thrive, Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone e... |
OMIM:609981 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Anemia, Oligozoospermia, Abnormal testis morphology... |
ORPHA:85450 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, B lymphocytopenia, Arthritis, Hyperlordosis, Decreased proportion of CD4-positive hel... |
ORPHA:221139 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Scoliosis, Hyperlordosis, Short ... |
OMIM:190350 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hyponatremia, Recurrent hypoglycemia |
ORPHA:293978 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c... |
OMIM:616050 |
| Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis |
ORPHA:1764 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Camptodactyly of finger, Cryptorchidism |
ORPHA:568 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Breast hypoplasia, Hypoplastic sacrum, Oligozoospermia, Clitoral hypoplasia, Failure ... |
OMIM:614813 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Prostate cancer, Acute lymphoblas... |
ORPHA:158057 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa... |
ORPHA:95699 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
| Rabson-Mendenhall Syndrome |
|
Hypokalemia, Fasting hypoglycemia, Impaired glucose tolerance, Increased C-peptide level, Diabeti... |
ORPHA:769 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
| Alexander Disease |
|
Osteopenia, Scoliosis, Hyperlordosis, Kyphosis, Precocious puberty, Failure to thrive, Short neck |
ORPHA:58 |
| Martsolf Syndrome 1 |
|
Tracheomalacia, Finger joint hypermobility, Thoracic scoliosis, Joint hypermobility, Cryptorchidi... |
OMIM:212720 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... |
OMIM:228300 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Parathyroid hyperplasia, Nodular goiter, Jo... |
OMIM:162300 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Classic Galactosemia |
|
Delayed puberty, Premature ovarian insufficiency, Male infertility, Reduced bone mineral density,... |
ORPHA:79239 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia |
OMIM:602522 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-feto... |
OMIM:617049 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Kyphosis, Platyspondyly, Uterine leiomyoma, Lumbar hyperlordosis, Brain a... |
OMIM:616482 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Spondylolysis, Reduced bone mineral density, Spondylolisthesis, Knee joi... |
ORPHA:2614 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Distal Renal Tubular Acidosis |
|
Rickets, Reduced bone mineral density, Hypokalemia, Failure to thrive, Osteomalacia, Increased su... |
ORPHA:18 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Cachexia, Hyponatremia, Failure to thrive, Weight loss, Hyper... |
ORPHA:275761 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemia, Red... |
ORPHA:2126 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
| Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia |
OMIM:612782 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Increased susceptibility to fractures, External genital hypoplasia, Decreased testicu... |
ORPHA:251028 |
| Saethre-Chotzen Syndrome |
|
Abnormal form of the vertebral bodies, Proximal radio-ulnar synostosis, Scoliosis, Hyperlordosis,... |
ORPHA:794 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
| Achondroplasia |
|
Limited elbow extension, Neonatal short-limb short stature, Rhizomelia, Narrow vertebral interped... |
OMIM:100800 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... |
ORPHA:91351 |
| Sheehan Syndrome |
|
Hyponatremia, Obesity, Hypoglycemia |
ORPHA:91355 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe... |
OMIM:272460 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Rhizomelic arm shortening, Lumbar hyperlordosis |
OMIM:249700 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia, Hypokalemia |
OMIM:618426 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Gowers sign, Scoliosis, Hyperlordosis, Short stature, Proximal muscle weakness, Intrauterine grow... |
OMIM:615356 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Hyperlordosis, Hypogonadism |
ORPHA:3253 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hyp... |
OMIM:617093 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Leprechaunism |
|
Hyperinsulinemia, Hypokalemia, Fasting hypoglycemia, Decreased body weight, Increased circulating... |
ORPHA:508 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal muscle weakness, Poor head control, Hyperlordosis, Fatigable weakness of neck muscles |
ORPHA:26791 |
| Hallermann-Streiff Syndrome |
|
Decreased number of sternal ossification centers, Tracheomalacia, Scoliosis, Hyperlordosis, Joint... |
OMIM:234100 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased circulating renin level, Fail... |
OMIM:241200 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
| Gitelman Syndrome |
|
Increased circulating renin level, Failure to thrive, Hypomagnesemia, Hypokalemia |
OMIM:263800 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Azoospermia, Abnormal ... |
ORPHA:125 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... |
ORPHA:90797 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Decreased body weight, Facial palsy, Flexion contracture, Muscle weakne... |
ORPHA:258 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... |
ORPHA:79124 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Failure to t... |
ORPHA:276 |
| Distal Deletion 10Q |
|
Postnatal growth retardation, Spina bifida occulta, Facial diplegia, Short stature, Failure to th... |
ORPHA:96148 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono... |
ORPHA:86843 |
| Holoprosencephaly |
|
Hyponatremia, Joint hypermobility, Failure to thrive in infancy, Hypoglycemia, Diabetes mellitus |
ORPHA:2162 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Proximal muscle weakness, Lumbar hyperlordosis |
ORPHA:370959 |
| Pelvis-Shoulder Dysplasia |
|
Prominent protruding coccyx, Abnormal form of the vertebral bodies, Neonatal short-trunk short st... |
ORPHA:2839 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Arthritis, Joint stiffness, Failure to thrive, Hyponatremia, Hypophosphatemia, Osteo... |
ORPHA:534 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Proportionate short stature, Joint stiffness, Spinal canal stenosis, Thin bony cortex,... |
OMIM:277600 |
| Gitelman Syndrome |
|
Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Failure to thrive, Hypomagnesemia,... |
ORPHA:358 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
| Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Failure to thrive, Glycosuria |
ORPHA:47159 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity, Hyperlordosis, Lumbar hyperlordosis, Cryptorchidism |
OMIM:616078 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Elbow flexion contracture |
ORPHA:79139 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
OMIM:612780 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Acromesomelic Dysplasia 4 |
|
Beaking of vertebral bodies, Disproportionate short stature, Rhizomelia, Short stature, Thoracic ... |
OMIM:619636 |
| Macrophage Activation Syndrome |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Juv... |
ORPHA:158061 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Sacral dim... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Sacral dim... |
ORPHA:363958 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Delayed epiphyseal ossification, Osteoporosis, Hypergonadotropic hy... |
ORPHA:91 |
| Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hyperchloriduria, Hypokalemia |
OMIM:607364 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypocalcemia, Hyponatremia, Septic arthritis, Diabetes mellitus |
ORPHA:544482 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Scoliosis, Urogenital sinus a... |
ORPHA:1772 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Disproportionate short-limb short stature, Scoliosis, Obesity, Joint hypermobility, Lumbar hyperl... |
OMIM:250420 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Kyphoscoliosis, Platyspondyly, Severe short stature, Lumbar hyperlordosis |
OMIM:184253 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis, Adenoma sebaceum, Abnormal morphology of female internal genitalia |
ORPHA:3353 |
| Stiff-Person Syndrome |
|
Anemia, Lumbar hyperlordosis |
OMIM:184850 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Interver... |
OMIM:143095 |
| Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Cholelithiasis, Hyperlordosis, Precocious puberty, Obesity, Hepatospleno... |
OMIM:301066 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Art... |
OMIM:301074 |
| Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Limited elbow extension, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Flexion con... |
OMIM:620450 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Failure to thrive, Hyponatremia, Weight loss |
ORPHA:90794 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia |
ORPHA:167 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... |
OMIM:278850 |
| Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
| Mucopolysaccharidosis, Type Vi |
|
Kyphoscoliosis, Anterior wedging of L2, Joint stiffness, Short stature, Ovoid vertebral bodies, H... |
OMIM:253200 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility |
OMIM:617011 |
| Sponastrime Dysplasia |
|
Kyphoscoliosis, Generalized joint hypermobility, Limited elbow extension, Hyperconvex vertebral b... |
ORPHA:93357 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia |
ORPHA:514 |
| Vipoma |
|
Hypokalemia, Diabetes mellitus, Hypercalcemia, Weight loss |
ORPHA:97282 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Eosino... |
OMIM:243700 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Tarsal synostosis, Decreased circulating renin level, Camptodactyly, Humeroradial s... |
OMIM:201750 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Failure to thrive, Hyponatrem... |
OMIM:619991 |
| Pearson Syndrome |
|
Hypokalemia, Hypocalcemia, Hyperalaninemia, Glycosuria, Hypomagnesemia, Hypophosphatemia, Diabete... |
ORPHA:699 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Lumbar kyphosis, Thoracic kyphosis, Joint stiffness, Thrombocytopenia, Leukopenia, Hepato... |
ORPHA:505248 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
| Myotonic Dystrophy 2 |
|
Oligozoospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism |
OMIM:602668 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint hypermobility, Hypokalemia |
OMIM:170390 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Hypospadias, Multiple joint contractures, Camptodactyly, Short neck, Cryptorchidis... |
OMIM:305450 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Arthritis, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hypo... |
ORPHA:99826 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphoscoliosis, Large for gestational age, Limitation of joint mobility, Kyphosis, Slender build,... |
ORPHA:457359 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis, Short stature, Camptodactyly of finger, Growth delay, Joint hypermobility, Intraut... |
ORPHA:261330 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Frontorhiny |
|
Hypopituitarism, Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis |
ORPHA:391474 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Oligozoospermia, Adrenal hyperplasia, Precocious puberty, Female pseudohermaphroditi... |
ORPHA:786 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Scoliosis, Short stature, Back pain, Lumbar hyperlordosis |
OMIM:161200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Obesity, Hyperlipidemia, Hyperglycemia |
ORPHA:293987 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Scoliosis, Hyperlordosis, Failure to thriv... |
OMIM:615873 |
| Weill-Marchesani Syndrome 2 |
|
Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Proportionate short stature, Jo... |
OMIM:608328 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Scoliosis, Hyperlordosis, Precocious puberty, Failure to thrive, Joint hypermobili... |
OMIM:619950 |
| Shprintzen Omphalocele Syndrome |
|
Scoliosis, Decreased body weight, Kyphosis, Short stature, Lumbar hyperlordosis |
OMIM:182210 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Glycos... |
ORPHA:447 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis, Weight loss |
ORPHA:91347 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ... |
ORPHA:466677 |
| Acrocapitofemoral Dysplasia |
|
Disproportionate short-limb short stature, Scoliosis, Delayed ossification of carpal bones, Short... |
OMIM:607778 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Small for gestationa... |
OMIM:619573 |
| Williams Syndrome |
|
Abnormal form of the vertebral bodies, Hypoplasia of penis, Hyperlordosis, Kyphosis, Joint stiffn... |
ORPHA:904 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... |
ORPHA:1359 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... |
ORPHA:911 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
| Nelson Syndrome |
|
Type II diabetes mellitus, Hypokalemia |
ORPHA:199244 |
| Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Cervical neoplasm, Pheochromocytoma, Thyroid C cell hyperplasia, Hyperlordosis, P... |
ORPHA:653 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... |
ORPHA:158048 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... |
ORPHA:35078 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,... |
OMIM:600802 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Sacral dimple, Small pituitary gland, Hype... |
OMIM:619503 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint hypermobility, Scoliosis, Progressive flexion contractures, Lumbar hyperlordosis |
ORPHA:522077 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Hypospadias, Scoliosis, Cryptorchidism, Lumbar hyperlordosis |
OMIM:616975 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen, Weight loss |
OMIM:233450 |
| Iniencephaly |
|
Hyperlordosis, Rhizomelia, Absent vertebra, Arthrogryposis multiplex congenita |
ORPHA:63259 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
B lymphocytopenia, Reduced natural killer cell count, Pancytopenia |
OMIM:620133 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule... |
OMIM:608233 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Bone cyst, Scoliosis, Hyperlordosis, Granuloma, Joint hypermobility |
ORPHA:363700 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint hypermobility, Hyperlordosis, Hypoplastic sweat glands |
ORPHA:73223 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Lymphocytosis, Neutropenia in prese... |
ORPHA:3261 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Decreased body weight, Failure to thrive, Joint hypermobility, Lumbar hy... |
OMIM:618371 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Limited elbow extension, Delayed ossification of carpal bones, Kyphosis, Anterior wedging of T12,... |
OMIM:300106 |
| Tetrasomy 9P |
|
Sacral dimple, Arthritis, Infertility, Oligozoospermia, Absent gallbladder, Short neck, Cryptorch... |
ORPHA:3310 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Hyperextensible hand joints, Joint hypermobility, Hemivertebrae, Hyperextensibili... |
ORPHA:500150 |
| Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Hyperlordosis, Facial palsy, Elbow flexion contracture, Kyphosis, F... |
OMIM:113620 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... |
ORPHA:340 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty in females, Hypoplasia ... |
ORPHA:64 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, Vertebral compression fracture, Hyperextensibility of the finger joints, Scoliosi... |
OMIM:309583 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
| Cystic Fibrosis |
|
Osteopenia, Male infertility, Decreased body mass index, Osteoporosis, Failure to thrive |
ORPHA:586 |
| Noonan Syndrome 1 |
|
Kyphoscoliosis, Postnatal growth retardation, Male infertility, Synovitis, Short stature, Failure... |
OMIM:163950 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint hypermobility, Hypokalemia, Osteoarthritis, Osteolysis |
ORPHA:286 |
| Microphthalmia, Syndromic 1 |
|
Kyphoscoliosis, Hypospadias, Scoliosis, Camptodactyly, Cryptorchidism, Lumbar hyperlordosis, Join... |
OMIM:309800 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Hypospadias, Recurrent fractures, Osteoporosis, Kyphosis, Abnormality of the Leyd... |
ORPHA:3063 |
