Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
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 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
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 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Flattened femoral head, Multicentric femoral head ossification, Leukocytosis, Congenital hip disl... |
ORPHA:168621 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Fibular Hemimelia |
|
Craniosynostosis, Structural foot deformity, Talipes equinovalgus, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract, Rod-cone dystrophy |
OMIM:300719 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Alg6-Cdg |
|
Failure to thrive, Ataxia, Retinal degeneration, Shortening of all distal phalanges of the finger... |
ORPHA:79320 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait |
OMIM:607250 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Pes cavus, E... |
OMIM:208920 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Vacuolated ly... |
OMIM:204200 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Microcytic anemia, Cataract, Hypoalbuminemia, Dilated cardiomyopathy, Failure t... |
OMIM:618805 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, Step... |
ORPHA:94124 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cognitive impairment, Brachydactyly, Retinal dystrophy, Cataract, Obesity |
OMIM:615995 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... |
ORPHA:752 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hypoproteinemia, Increas... |
OMIM:267700 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Slc35A2-Cdg |
|
Inability to walk, Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin lev... |
ORPHA:356961 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... |
OMIM:264300 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... |
ORPHA:1505 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... |
OMIM:607143 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... |
ORPHA:292 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
Abetalipoproteinemia |
|
Corneal ulceration, Ataxia, Osteopenia, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fu... |
ORPHA:14 |
Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism |
OMIM:617575 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... |
ORPHA:891 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Clinodactyly of the 5th finger, Hypoalbuminemia, Paroxysmal bursts of laug... |
OMIM:618347 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Atrial septal defect, Flared iliac wing, Splenomegaly, Flexion contracture, Me... |
OMIM:617303 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hypoproteinemia, Hemopha... |
OMIM:603553 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... |
ORPHA:247585 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... |
ORPHA:1667 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Self-mutilation, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular h... |
OMIM:619487 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Morm Syndrome |
|
Truncal obesity, Retinal dystrophy, Cataract, Retinal atrophy, Aggressive behavior |
ORPHA:75858 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentrat... |
OMIM:608104 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volu... |
ORPHA:86839 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Ataxia, Rod-cone dystrophy, Flexion contracture, Hypergonadotropic hypogonadis... |
OMIM:212065 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Short long bone, Clinodactyly ... |
ORPHA:79324 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... |
ORPHA:2070 |
Flynn-Aird Syndrome |
|
Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Increased bon... |
OMIM:136300 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Retinal thinning, Arthralgia of the hip, Genu valgum, Pedal edema, Cataract, Double-layered patel... |
ORPHA:166011 |
Senior-Loken Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone mineral d... |
ORPHA:3156 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Reduced bone mineral density, Depression, Mental deterioration, Oligomeno... |
ORPHA:79239 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Flexion contracture, Depression, Anxiety, Abnormal circ... |
ORPHA:89842 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... |
OMIM:246700 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Ventricular septal defect, Di... |
OMIM:616730 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hypoalbuminemia, Periostosis, Hyperostosis |
OMIM:614441 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, R... |
ORPHA:2611 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Failure to thrive, Cachexia, Pes cavus, Attenuation of retinal blood vessels, O... |
OMIM:610965 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, S... |
ORPHA:93296 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Retinal detachment, Irregular epiphyses, Flattened epiphys... |
ORPHA:1856 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finger, Short lower li... |
OMIM:127200 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... |
ORPHA:64743 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Rod-cone dystrophy, Hypergonadotropic hypogonadism, Depression, Pigmentary retinopathy, E... |
OMIM:614307 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypoalbuminemia |
ORPHA:84090 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, Palm... |
OMIM:242150 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Abnormal pericardium morphology, Constrictive pericarditis, Weight loss, Hypoalbumi... |
ORPHA:67 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... |
ORPHA:103910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Optic atrophy, Cataract,... |
OMIM:613154 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Galactosemia |
|
Gait imbalance, Failure to thrive, Ataxia, Reduced bone mineral density, Cognitive impairment, In... |
ORPHA:352 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... |
OMIM:305390 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux, Enamel hypoplasia, S... |
OMIM:251190 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... |
ORPHA:64753 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... |
ORPHA:247598 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Talipes equinovarus, Slender finger, Hiatus hernia, Joint contracture of the hand, Small ... |
OMIM:251300 |
Orofaciodigital Syndrome Ix |
|
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Atrial septal defect, Flexion contracture... |
ORPHA:505248 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Apathy, Abnormal retinal vascular morphology, Cognitive impairment, Depression, Macular edema, An... |
ORPHA:247691 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Talipes equinovarus, Joint contracture of the hand, Atrial septal defect, Coronal craniosynostosi... |
OMIM:235510 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... |
OMIM:226300 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Flexion contracture, Hepatosplenomegaly, Dilated cardiomyopathy, Hypoalbuminem... |
ORPHA:367 |
Phenylketonuria |
|
Blue irides, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylala... |
OMIM:261600 |
Al Amyloidosis |
|
Abnormal heart morphology, Abnormal cardiac ventricle morphology, Autonomic erectile dysfunction,... |
ORPHA:85443 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Attenuat... |
OMIM:615986 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Chorioretinal hyperpigmentation, Progressive neurologic deterioration, Optic a... |
OMIM:618329 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Retinal dystrophy, Upper limb undergrowth, Optic atrophy, Cataract, Narrow greater sc... |
ORPHA:168549 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Abscess, Elevated circulating cr... |
ORPHA:36234 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Brachydactyly, Retinal thinning, Asteroid hyalosis, Short phalanx of finger... |
OMIM:132450 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... |
ORPHA:1106 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Inguinal hernia, Dysmetria, ... |
OMIM:256550 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Wilson Disease |
|
Increased circulating copper concentration, Dementia, Hyperbilirubinemia, Splenomegaly, Chondroca... |
OMIM:277900 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Rod-cone dystrophy, Pes cavus, Elevated levels of phytanic acid, Cataract, Cardiomyopathy |
OMIM:614879 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... |
OMIM:264700 |
Pseudopseudohypoparathyroidism |
|
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Short me... |
OMIM:612463 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tet... |
OMIM:103580 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... |
OMIM:180080 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Splenomegaly, Pulmonic stenosis, Small for gestational age, Cognitive impairme... |
OMIM:222470 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... |
ORPHA:190 |
Marinesco-Sjögren Syndrome |
|
Ataxia, Abnormality of finger, Hip dysplasia, Avascular necrosis of the capital femoral epiphysis... |
ORPHA:559 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... |
OMIM:600081 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival icterus, Hypoalbum... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbum... |
ORPHA:529808 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Inguinal hernia, Flar... |
OMIM:156550 |
Refsum Disease, Classic |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Pes cavus, Elevated le... |
OMIM:266500 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Microcornea, Cataract, Anterior bowing of long bones, Bow... |
OMIM:255800 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Scarring, Corneal opacity, Craniosynostosis, Enamel hypoplasia, Hypoalbuminemi... |
ORPHA:79396 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Cach Syndrome |
|
Apathy, Optic neuritis, Irritability, Flexion contracture, Limb ataxia, Dysmetria, Cognitive impa... |
ORPHA:135 |
Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Cachexia, Clubbing of fingers, Broad thumb, Midclavicular hypoplasia, Hypoa... |
ORPHA:79076 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Smith-Lemli-Opitz Syndrome |
|
Self-mutilation, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Cataract, Epi... |
OMIM:270400 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Orchitis, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kin... |
ORPHA:99826 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... |
OMIM:277440 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Reduced bone mineral density, Hypergonadotropic hypogonadism, Primary amenorrhea, Osteoporosis, C... |
ORPHA:2410 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Depression, Mental deterioration, Elevated circulating creatine kinase concentration, Pig... |
ORPHA:79095 |
Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperp... |
OMIM:612462 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... |
ORPHA:37042 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... |
ORPHA:166016 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Ataxia, Depression, Osteopenia, Hepatosplenomegaly, Anxiety, Optic disc pallor, ... |
ORPHA:309288 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Impotence, Cataract, Cardiomyopathy, Anemia, Elevat... |
OMIM:606069 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Irritability, Increased bone mineral density, Depression, Anx... |
ORPHA:94089 |
Omodysplasia 1 |
|
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Pedal edema, Weight loss, Hypoalbu... |
ORPHA:88673 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hiatus hernia, Arachnodactyly, Micrognathia, Camptodactyly, Hypoalbuminemia, H... |
OMIM:617729 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Kniest Dysplasia |
|
Flexion contracture of finger, Abnormal bone structure, Cataract, Dumbbell-shaped long bone, Shor... |
ORPHA:485 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:255249 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Irritabi... |
ORPHA:289157 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Short 3rd metacarpal, Cataract, Calcinosis, Broad distal phalanx ... |
ORPHA:79444 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... |
ORPHA:1988 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystro... |
OMIM:263520 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... |
OMIM:241530 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Inguinal hernia, Metaphyseal widening, Attenuation of retinal blood vessels, Br... |
OMIM:614376 |
Galactokinase Deficiency |
|
Failure to thrive, Nuclear cataract, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Pseudohypoparathyroidism Type 1A |
|
Band keratopathy, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Cataract, Calcinosis, Bro... |
ORPHA:79443 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Reduced bone mineral density, Sm... |
OMIM:613658 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ... |
ORPHA:2298 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia, Anemia, Clubbing |
OMIM:174900 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostosis, Increased ... |
OMIM:259720 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Mevalonic Aciduria |
|
Failure to thrive, Ataxia, Elevated circulating C-reactive protein concentration, Nuclear catarac... |
OMIM:610377 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short distal phalanx of finger, Multiple joint contractures, Broad-based gait, Band keratopathy, ... |
ORPHA:2959 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Irritability, Increased bone mineral density, Depression, Anxiety, Hypocalcemic tet... |
ORPHA:36913 |
Muscle-Eye-Brain Disease |
|
Cognitive impairment, Elevated circulating creatine kinase concentration, Optic atrophy, Gait dis... |
ORPHA:588 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Small for... |
OMIM:619055 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr... |
ORPHA:186 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Mietens Syndrome |
|
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Hypoplasia of the radius,... |
ORPHA:2557 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Constrict... |
ORPHA:90363 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Ataxia, Cherry red spot of the macula, Inguinal hernia, Dysmetria, Hepatosplenom... |
ORPHA:93400 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Depression, Osteopenia, Hepatosplenomegaly, Osteoporosis, Hypoalbuminemia, Weight loss |
ORPHA:171 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... |
OMIM:609441 |
Spondyloocular Syndrome |
|
Decreased body weight, Atrial septal defect, Osteopenia, Retinal detachment, Long fingers, Mitral... |
OMIM:605822 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Atrioventricular canal defect, Osteopenia, Ventricu... |
OMIM:619534 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pericardial ef... |
OMIM:618183 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Retinal dystr... |
OMIM:209900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Ataxia, Limited mobility of proximal interphalangeal jo... |
OMIM:222300 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... |
OMIM:300554 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Lymphopenia, Inguinal hernia, Abnormal circulating lipid concentration,... |
OMIM:616541 |
Usher Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Cognitive impairment, Depression, Anxiety, Astigmati... |
ORPHA:886 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... |
OMIM:164900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Proteus-Like Syndrome |
|
Genu recurvatum, Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Sha... |
ORPHA:2969 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Ataxia, Retinal degeneration, Optic atrophy, Genu valgum, Catar... |
ORPHA:581 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Ocular albinism, Hypochromic anemia, Arachnodactyly, Reduced bone mineral density, Abnorm... |
ORPHA:2720 |
Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... |
OMIM:227270 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... |
OMIM:119800 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Ankle swe... |
ORPHA:514 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Osteopenia, Micrognathia, Congenital hip dislocation, Optic atrophy, Cataract,... |
OMIM:617913 |
Werner Syndrome |
|
Retinal degeneration, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Hypert... |
OMIM:277700 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... |
OMIM:600002 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Cataract,... |
ORPHA:959 |
Primary Ciliary Dyskinesia |
|
Abnormal heart morphology, Double outlet right ventricle, Female infertility, Anomalous pulmonary... |
ORPHA:244 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... |
OMIM:228520 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute my... |
ORPHA:86843 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Pmm2-Cdg |
|
Photoreceptor layer loss on macular OCT, Multiple joint contractures, Ataxia, Failure to thrive, ... |
ORPHA:79318 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cataract, Bowing of the long bones, Omphalocele, Carpal synos... |
ORPHA:90652 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Cachexia, Eosinophili... |
ORPHA:75565 |
Charge Syndrome |
|
Self-mutilation, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Catar... |
OMIM:214800 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning glory anomaly, ... |
OMIM:612109 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Absent radi... |
OMIM:227650 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, B lymphocytopenia, Rhizomelic arm shorteni... |
ORPHA:508542 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Tibial bowing, Talipes equinovarus, Inguinal hernia, Retinal coloboma, Abnormal righ... |
ORPHA:500095 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Lipodystrophy,... |
OMIM:617099 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Pedal edema, Hypoalbuminemia |
ORPHA:567546 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... |
ORPHA:231222 |
Fabry Disease |
|
Abnormality of femur morphology, Corneal opacity, Hyperlipidemia, Reduced bone mineral density, D... |
ORPHA:324 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Transketolase Deficiency |
|
Self-injurious behavior, Atrial septal defect, Ventricular septal defect, Secondary amenorrhea, C... |
ORPHA:488618 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Ventricular septal defect, Iridodonesis, Cataract, Umbilical hernia, Ectopia le... |
OMIM:608328 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Cushing Disease |
|
Amenorrhea, Abdominal obesity, Lymphopenia, Leukocytosis, Depression, Increased body weight, Olig... |
ORPHA:96253 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneratio... |
OMIM:208500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Corneal crystals, Genu valgum, Weight loss, Failure to thriv... |
OMIM:219800 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary ... |
ORPHA:958 |
Dent Disease |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Bowing of the ... |
ORPHA:1652 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... |
ORPHA:279914 |
Sponastrime Dysplasia |
|
Genu valgum, Rhizomelia, Hip subluxation, Small epiphyses, Cataract, Microcoria, Short long bone,... |
ORPHA:93357 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Micrognathia, Retinal neovascularization |
OMIM:619074 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... |
ORPHA:67043 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Opacification of the corneal stroma, Mesomelic arm shorte... |
OMIM:113470 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... |
OMIM:106210 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|