| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| 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 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... |
OMIM:112910 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Azoosp... |
OMIM:615703 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... |
ORPHA:1972 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... |
ORPHA:52901 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hypocalcemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissu... |
OMIM:612526 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Postaxial foot polydactyly, Polydipsia, Obesity, Polydactyly, Postaxial p... |
OMIM:615986 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Pes cavus, Hyperchole... |
ORPHA:488650 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, Short... |
ORPHA:254531 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size |
OMIM:618086 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... |
OMIM:619868 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hip Dysplasia, Beukes Type |
|
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Temple Syndrome |
|
Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, Trunc... |
OMIM:616222 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Hyponatremia, Weight loss, Anorexia |
ORPHA:178029 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... |
ORPHA:2457 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Long foot, Adipose tissue loss, Amenorrhea, Lipodystrophy, Hypercholesterolemi... |
ORPHA:528 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Kleine-Levin Syndrome |
|
Polydipsia, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive com... |
ORPHA:33543 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... |
ORPHA:753 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Distal lower limb muscle weakness |
ORPHA:94124 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... |
OMIM:620211 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... |
OMIM:617994 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Micrognathia, Reduced subcutaneous adipose tissue, Loss... |
OMIM:248370 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Pes planus, Hypercholeste... |
OMIM:182290 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... |
OMIM:620076 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia |
OMIM:607250 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Polydipsia, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Polyda... |
OMIM:615994 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontali... |
ORPHA:77296 |
| Laron Syndrome |
|
Short toe, Micrognathia, Hypercholesterolemia, Brachydactyly, Osteoarthritis, Truncal obesity |
ORPHA:633 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:619468 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:30925 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small hand, Clinodactyly, Obesity, Micrognathia, Joint hypermobility, Hypercholesterolemia, Trunc... |
ORPHA:96184 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... |
ORPHA:1106 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... |
ORPHA:247585 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Hypocalcemia, Short humerus, Short ribs, ... |
OMIM:607143 |
| Cystinosis |
|
Rickets, Failure to thrive, Polydipsia, Hypokalemia, Hypophosphatemia, Motor stereotypy |
ORPHA:213 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Prader-Willi Syndrome |
|
Small hand, Clinodactyly, Genu valgum, Polyphagia, Primary amenorrhea, Short foot, Syndactyly, Se... |
OMIM:176270 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Fibular bowing, F... |
OMIM:600081 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... |
OMIM:307800 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypercholesterolemia, Motor ste... |
ORPHA:2479 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas... |
ORPHA:79237 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| East Syndrome |
|
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... |
ORPHA:199343 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... |
ORPHA:2378 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Micrognat... |
ORPHA:819 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... |
ORPHA:330015 |
| Familial Cold Urticaria |
|
Polydipsia, Arthritis |
ORPHA:47045 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Polydipsia, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... |
OMIM:151660 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... |
ORPHA:320 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Neuhauser Syndrome |
|
Genu recurvatum, Osteopenia, Genu valgum, Micrognathia, Arachnodactyly, Pes valgus, Pes planus, H... |
OMIM:249310 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly... |
OMIM:616730 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... |
OMIM:616300 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... |
ORPHA:198 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,... |
OMIM:258315 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... |
OMIM:620306 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Small hand, Short clavicles, Hypercholesterolemia, Overweight, Tapered finger |
ORPHA:401923 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Hypophosphatemic ... |
OMIM:241530 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Calcinosis, Metaphyseal irregular... |
OMIM:239200 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Whipple Disease |
|
Polydipsia, Hyponatremia, Cachexia, Arthritis, Anorexia, Erectile dysfunction, Pedal edema |
ORPHA:3452 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Polydipsia, Osteomyelitis, Xanthelasma, Hypogonadotropic hypogonad... |
ORPHA:35687 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... |
OMIM:264700 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Elevated circulating creatine kinase concentration, Increased body weight... |
ORPHA:79240 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Decreased circula... |
ORPHA:231580 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Hypernatremia |
OMIM:304800 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... |
ORPHA:251510 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Elevated circulating creatine kinase concentration, In... |
ORPHA:264580 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... |
ORPHA:8 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... |
OMIM:277440 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Finger swelling, Ricket... |
OMIM:309000 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:251274 |
| Nephronophthisis 9 |
|
Polydipsia |
OMIM:613824 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Failure to thrive, Umbilical hernia, ... |
ORPHA:90674 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Failure to thrive, Polyphagia, Hyperactivity, Craniosynostosis |
ORPHA:525731 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... |
ORPHA:96334 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Failure to thrive, Pol... |
OMIM:219800 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Galloway-Mowat Syndrome 7 |
|
Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly, Hallux valgus, ... |
OMIM:618348 |
| Panhypophysitis |
|
Polydipsia, Decreased male libido, Decreased female libido, Hyponatremia, Decreased circulating c... |
ORPHA:95513 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Female infertility, Obesity, Genu valgum, Hyperlipid... |
ORPHA:91 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... |
ORPHA:3035 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... |
OMIM:612780 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Hypernatremia, Anorexia |
ORPHA:223 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Gitelman Syndrome |
|
Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Hypokalemia, Salt craving, Incr... |
OMIM:263800 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... |
OMIM:617925 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Obesity, Hyperc... |
ORPHA:412 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating fer... |
ORPHA:470 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Failure to thrive, Polydipsia, Hypokalemia, Hypophosphatemia, Abnormal blood ion concent... |
ORPHA:411629 |
| Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... |
ORPHA:79239 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... |
OMIM:164900 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Polydipsia, Lipoma, Hypophosphatemia, Weight loss, Dysphagia, Osteoporosis, Hy... |
ORPHA:143 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... |
OMIM:248250 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Hyperaldosteronism |
ORPHA:369929 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Failure to thrive, Bifi... |
ORPHA:90793 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failur... |
OMIM:241200 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly,... |
OMIM:619471 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
| Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration, Micrognathia, Congenital diaphragmatic... |
ORPHA:2260 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Knee flexion contracture, Hypercholesterolemia, Short long bone, Bilateral talipe... |
OMIM:620454 |
| Distal Renal Tubular Acidosis |
|
Rickets, Failure to thrive, Polydipsia, Osteomalacia, Increased susceptibility to fractures, Hypo... |
ORPHA:18 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero... |
OMIM:278000 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... |
OMIM:615812 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Chondrocalcinosis, Polydipsia, Lipoma, Hypophosphatemia, Dysphagia, Osteoporosis, Hypercalcemia |
ORPHA:99880 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia |
ORPHA:91351 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia |
ORPHA:209902 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Dentinogenesis imperfecta, Radial bowing, Slender long bone, Femoral bowing, Inguinal... |
OMIM:610915 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Micrognathia, Genu valgum, Hypophosphatemia, Patellar dislocation, Motor stereotypy... |
ORPHA:534 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc... |
ORPHA:411634 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... |
ORPHA:289176 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Oncogenic Osteomalacia |
|
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... |
ORPHA:352540 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... |
OMIM:263520 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... |
OMIM:278850 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Osteopenia, Failure to thrive, Xanthelasma, Hyperlipidemia, Increased sus... |
ORPHA:79259 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Reduced subcutaneous adipose tissue, Polydactyly, Hypokalemia, Increased C-peptide level |
ORPHA:769 |
| Gaisböck Syndrome |
|
Obesity, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overw... |
ORPHA:90041 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... |
OMIM:603671 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia |
ORPHA:3157 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Hypercholesterolemia |
ORPHA:90065 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... |
OMIM:108720 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polydipsia |
OMIM:617671 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Senior-Boichis Syndrome |
|
Polydipsia, Increased total bilirubin, Aggressive behavior, Attention deficit hyperactivity disor... |
ORPHA:84081 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Enamel hypomineralization, Hypokalemia, Reduced bone mineral densi... |
ORPHA:47159 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... |
ORPHA:958 |
| Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ... |
OMIM:228520 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia... |
ORPHA:140 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
