Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
Ring Chromosome Y Syndrome |
|
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... |
ORPHA:261529 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Congenital hip disl... |
ORPHA:168621 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnormality of ... |
ORPHA:1875 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Lymphopenia, Short stature, Hypergonadotropic hypog... |
OMIM:617053 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... |
ORPHA:93323 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased fem... |
ORPHA:432 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Osteopenia, Reduced bone mineral density, Primary amenorrhea, Gonada... |
ORPHA:243 |
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, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Osteopenia, Pr... |
ORPHA:2232 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
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 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, ... |
OMIM:603554 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia |
OMIM:261550 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
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 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short ... |
ORPHA:2235 |
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 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte... |
OMIM:300400 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
OMIM:300510 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Aromatase Deficiency |
|
Growth delay, Generalized hirsutism, Female infertility, Ambiguous genitalia, female, Eunuchoid h... |
ORPHA:91 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
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 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Osteo... |
ORPHA:397685 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... |
ORPHA:52901 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonad... |
ORPHA:3085 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia ... |
ORPHA:3130 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Bardet-Biedl Syndrome |
|
Generalized hirsutism, Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Short neck, H... |
ORPHA:110 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Pure red cell aplasia, Hypogonadism, Anemia |
OMIM:618165 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Cry... |
OMIM:618393 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Insulin-Like Growth Factor I Deficiency |
|
Radial deviation of finger, Micrognathia, Hyperactivity, Clinodactyly |
OMIM:608747 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Micropenis, Hypoplastic spleen, Decreased skull ossification, A... |
OMIM:602361 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Inguinal hernia, Splenomegaly, Anemia, Hypoplasia o... |
OMIM:612541 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Hypoplasia of the ovary, Premature ovarian insufficiency, Osteoscle... |
OMIM:609993 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Micropenis, Short stature, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, ... |
OMIM:301900 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia, Short stature, Hypoplasia of the thymus, T lymphocytopenia, Acute... |
OMIM:208900 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Hypopigmentation of hai... |
ORPHA:100 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Joint contracture of the hand, ... |
OMIM:214110 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Scoliosis, Osteo... |
ORPHA:48431 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... |
ORPHA:3000 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... |
OMIM:618484 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... |
ORPHA:754 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Alopecia, Splenomegaly, Hypogonadotropic... |
OMIM:235200 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... |
OMIM:602450 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Increased serum t... |
ORPHA:247768 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Widow'S Peak Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Hip osteoarthritis, Shawl scrotum, Widow's peak, Arthra... |
OMIM:314570 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Short stature, Skeletal muscle autophagosome accumulation,... |
OMIM:619518 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Premature graying of hair, Lipoatrophy, Abnormal hair qu... |
ORPHA:2617 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Skeletal muscle atrophy, Dec... |
ORPHA:481 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Congenital diaphragmatic hernia, Bicornuate uterus, Inguinal hernia, Mu... |
OMIM:601186 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:611225 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Short neck, Scoliosis, Neonatal death, Arthrogryposis multiplex congen... |
OMIM:611890 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... |
OMIM:600175 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
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 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness |
OMIM:617087 |
Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... |
ORPHA:465508 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadotropic cell aden... |
ORPHA:91348 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... |
ORPHA:206484 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Xp22.3 Microdeletion Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Sacral di... |
ORPHA:1643 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Alopecia, Streak ovary |
OMIM:241090 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... |
ORPHA:178148 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Hypospadias, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Recurrent fractures, Hypoplasia of penis, Short stature, Camptodactyly of finger, Short... |
ORPHA:3409 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation |
OMIM:300434 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility, Myopathy, General... |
OMIM:618323 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Inguinal hernia, Small for gestational age, Short statur... |
ORPHA:352490 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Cryptorchidism, Hypospadias, Osteopenia, Shor... |
OMIM:611209 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Roifman Syndrome |
|
Hip contracture, Short stature, Delayed proximal femoral epiphyseal ossification, Hypogonadotropi... |
ORPHA:353298 |
Classic Galactosemia |
|
Hepatomegaly, Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Abnormal erythroc... |
ORPHA:79239 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hirsutism, Kyphosis, Short stature, Small for gestational age |
ORPHA:85288 |
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 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Mcdonough Syndrome |
|
Kyphosis, Short stature, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosi... |
ORPHA:2471 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Kyphosis, Macroglossia, Micropenis, Short stature, Hypospadias, Joint laxity, ... |
OMIM:300354 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Generalized limb muscle atrophy, Distichiasis, Delayed puberty, Anemia, Myop... |
ORPHA:2598 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... |
OMIM:243150 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Testicular atrophy, Limb muscle weakness, Decreased fertility |
OMIM:313200 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy |
OMIM:619164 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... |
ORPHA:99429 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Omphalocele, Stiff neck, I... |
OMIM:617022 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, Failure to thrive... |
OMIM:618987 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Weight loss, Osteolysis, Anemia,... |
ORPHA:100024 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Marinesco-Sjogren Syndrome |
|
Failure to thrive, Kyphosis, Flexion contracture, Short stature, Hypergonadotropic hypogonadism, ... |
OMIM:248800 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Per... |
ORPHA:314478 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Schaaf-Yang Syndrome |
|
Kyphosis, Thick eyebrow, Flexion contracture, Micropenis, Short stature, Scoliosis, Camptodactyly... |
OMIM:615547 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:169079 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly |
ORPHA:796 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice |
OMIM:618512 |
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 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hepatomegaly, Flexion contracture, Scoliosis, Osteoporosis, Lipodystrophy, Hypogonadism... |
OMIM:615381 |
Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... |
ORPHA:356961 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Atrophi... |
OMIM:616471 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporo... |
OMIM:618234 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Osteopenia, Short neck, Scoliosis, Disproportiona... |
OMIM:271530 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Severe short stature, Flexion contracture, B lymphocytopenia |
OMIM:619851 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... |
OMIM:308700 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Syndromic Diarrhea |
|
Short stature, Woolly hair, Hepatomegaly, Brittle hair, Inguinal hernia, Hepatoblastoma, Splenome... |
ORPHA:84064 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Proximal muscle weakness in lower limbs, Scoliosis, Lower limb amyotro... |
OMIM:615290 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Growth ... |
OMIM:613987 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... |
OMIM:300718 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic ho... |
OMIM:609981 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Short stature, Scoliosis, Foot dorsiflexor weakness, Obesity, Premature ovarian insuffi... |
OMIM:618124 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele, D... |
OMIM:601163 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Weakness of facial musculature, Neurop... |
ORPHA:352447 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Polycystic ovaries, Loss of... |
ORPHA:79083 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Facial palsy, Generalized amyotrophy, ... |
OMIM:615084 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Kyphosis, Postnatal growth retardation, Congenital diaphragmatic hernia, Decre... |
ORPHA:94065 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Postnatal growth retardation, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis,... |
ORPHA:79240 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Bone cyst, Ovarian cyst,... |
ORPHA:400 |
Ruvalcaba Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Scoliosis, Limited elbow extension, Delayed puberty, Cr... |
OMIM:180870 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Short stature, Small for g... |
OMIM:618392 |
Sialidosis Type 2 |
|
Kyphosis, Hepatomegaly, Inguinal hernia, Flexion contracture, Splenomegaly, Short stature, Osteop... |
ORPHA:87876 |
Winchester Syndrome |
|
Kyphosis, Hirsutism, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone st... |
ORPHA:3464 |
Rudiger Syndrome |
|
Bicornuate uterus, Flexion contracture, Inguinal hernia, Ovarian cyst, Micropenis |
OMIM:268650 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Short neck, Abnormal ... |
ORPHA:2983 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Mccune-Albright Syndrome |
|
Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... |
ORPHA:562 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Rheumatoid arthritis, ... |
ORPHA:227990 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hypertrichosis, Low anterior hairli... |
ORPHA:528 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Hirsutism, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovarie... |
ORPHA:2795 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Rheuma... |
ORPHA:227982 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... |
ORPHA:699 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymph... |
ORPHA:277 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation... |
OMIM:618237 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Failure to thrive, Low anterior hairline, Hypoplasia of penis,... |
ORPHA:861 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Cellulitis, Hepatomegaly, Splenom... |
ORPHA:2348 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, Arthritis, T lymphocytopenia, Failure to thrive secondary t... |
OMIM:601457 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly |
OMIM:300928 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... |
ORPHA:398069 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly |
OMIM:618453 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Neonatal short-limb short stature, Increased bone mineral density, Cam... |
ORPHA:628 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormality of the menstru... |
ORPHA:906 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Congenital diaphragmatic hernia, Inguinal hernia, Short ... |
ORPHA:2311 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Intrauterine growth retardation, Hypoplasia of the ovary, Flexion contracture,... |
OMIM:619321 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Alopecia universalis, Hypoparathyroidism, Chronic active hepatitis, Adrenal insuf... |
OMIM:240300 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Short stature, Scoliosis, Joint laxity, Obesity, Macroorchidism |
OMIM:300431 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... |
ORPHA:91349 |
Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Hyp... |
OMIM:308750 |
Orofaciodigital Syndrome Ix |
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Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... |
ORPHA:264580 |
Myopathic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Failure to thrive, Kyphosis, Kyphoscoliosis, Joint contracture of th... |
ORPHA:536516 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... |
ORPHA:75840 |
Camurati-Engelmann Disease |
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Slender build, Kyphosis, Cortical thickening of long bone diaphyses, Hepatomegaly, Limitation of ... |
ORPHA:1328 |
Atelosteogenesis Type Iii |
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Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Ovarian Fibroma |
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Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Cowden Syndrome 1 |
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Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... |
OMIM:158350 |
Horizontal Gaze Palsy With Progressive Scoliosis |
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Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Edema |
OMIM:610158 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... |
ORPHA:370 |
3-Methylglutaconic Aciduria, Type V |
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Microvesicular hepatic steatosis, Postnatal growth retardation, Hypospadias, Decreased testicular... |
OMIM:610198 |
Leopard Syndrome 1 |
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Kyphoscoliosis, Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Short stature... |
OMIM:151100 |
Spermatogenic Failure 6 |
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Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Kyphosis, Abnormal reticulocyte morphology, Short stature, Hypospadias, Short neck, Hyperlordosis... |
ORPHA:2522 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... |
OMIM:242700 |
Three M Syndrome 1 |
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Growth delay, Increased vertebral height, Thick eyebrow, Small for gestational age, Short stature... |
OMIM:273750 |
Clark-Baraitser syndrome |
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Kyphosis, Scoliosis, Joint laxity, Obesity, Macroorchidism |
OMIM:300602 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Kyphosis, Sclerosis of skull base, Severe short stature, Hyperextensibility of t... |
OMIM:313420 |
Becker Nevus Syndrome |
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Kyphosis, Lipoatrophy, Supernumerary nipple, Scoliosis, Spina bifida occulta, Shoulder girdle mus... |
ORPHA:64755 |
Arthrogryposis, Distal, Type 4 |
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Torticollis, Kyphosis, Low anterior hairline, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoli... |
OMIM:609128 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,... |
OMIM:614732 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... |
OMIM:606612 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Kyphosis, Hyperextensibility of the finger joints, Frontal upsweep of hair, Scoliosis, Cryptorchi... |
OMIM:619797 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligospermia, Male infertility,... |
ORPHA:85450 |
Lipe-Related Familial Partial Lipodystrophy |
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Increased adipose tissue around the neck, Hepatomegaly, Decreased adiponectin level, Skeletal mus... |
ORPHA:435660 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Gaucher Disease Type 1 |
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Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... |
ORPHA:77259 |
Yellow Nail Syndrome |
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Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... |
OMIM:619824 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Muscle fiber necrosis, Testicular atrophy, Hypergonadotropic hypogonadism, EMG: myopathic abnorma... |
OMIM:157640 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis, Obesity |
OMIM:616756 |
Cockayne Syndrome Type 2 |
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Kyphosis, Hepatomegaly, Flexion contracture, Limb hypertonia, Scoliosis, Enamel hypoplasia, Male ... |
ORPHA:90322 |
Prader-Willi Syndrome |
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Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... |
OMIM:176270 |
Mosaic Trisomy 9 |
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Hypoplasia of penis, Abnormal liver lobulation, Hemivertebrae, Camptodactyly of finger, Short nec... |
ORPHA:99776 |
Cardiofacioneurodevelopmental Syndrome |
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Kyphosis, Abdominal situs inversus, Camptodactyly, Cryptorchidism, Asplenia |
OMIM:619123 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... |
OMIM:618291 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Abn... |
ORPHA:457059 |
Digeorge Syndrome |
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Hydrocele testis, Cholelithiasis, Ovarian cyst, Abnormality of the thymus, Umbilical hernia, Para... |
OMIM:188400 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Failure to thrive, Kyphosis, Facial myokymia, Short stature |
OMIM:620007 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating androgen concentration, Abnormal external genitalia, Craniosynostosis, Decr... |
ORPHA:95699 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... |
OMIM:610475 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Short neck, Abnormality of the tonsils, Umbilical hernia, Intrauterine growth ret... |
ORPHA:567 |
Donohue Syndrome |
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Hypertrichosis, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Cho... |
OMIM:246200 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Spastic Paraplegia 46, Autosomal Recessive |
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Kyphosis, Infertility, Scoliosis, Lower limb muscle weakness, Limb muscle weakness |
OMIM:614409 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... |
OMIM:110100 |
Pelger-Huet Anomaly |
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Failure to thrive, Kyphosis, Neutropenia, Lower limb hypertonia, Hyposegmentation of neutrophil n... |
OMIM:169400 |
Wolfram Syndrome 1 |
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Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Gr... |
OMIM:222300 |
Alpha-Mannosidosis |
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Kyphosis, Type II diabetes mellitus, Hepatomegaly, Inguinal hernia, Splenomegaly, Macroglossia, S... |
ORPHA:61 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemia, Short stature, Th... |
OMIM:227650 |
Noonan Syndrome 14 |
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Kyphosis, Lymphopenia, Sparse hair, Sparse eyebrow, Short stature, Scapular winging, Short neck, ... |
OMIM:619745 |
Immunodeficiency 27A |
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Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Short stature, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
X-Linked Intellectual Disability, Cabezas Type |
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Kyphosis, Hypoplasia of penis, Inguinal hernia, Short stature, Cachexia, Camptodactyly of finger,... |
ORPHA:85293 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Kyphosis, Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the eyebrow, Hernia of the ab... |
ORPHA:3082 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Kyphosis, Intrauterine growth retardation, Thick eyebrow, Inguinal hernia, Small for gestational ... |
OMIM:615834 |
Primary Lipodystrophy |
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Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, ... |
ORPHA:90970 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia |
ORPHA:244 |
Myotonic Dystrophy 1 |
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Cholelithiasis, Facial diplegia, Testicular atrophy, Frontal balding, Hypogonadism |
OMIM:160900 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Acroosteolysis of distal phalang... |
ORPHA:280365 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Proteus-Like Syndrome |
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Splenomegaly, Abnormality of the parathyroid gland, Shagreen patch, Thymus hyperplasia, Subcutane... |
ORPHA:2969 |
Femoral-Facial Syndrome |
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Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Short s... |
ORPHA:3042 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymph... |
OMIM:102700 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Premature graying of hair, Alopecia, Short stature, Leukopenia, Aplastic anemia, Osteoporosis, Fi... |
OMIM:613990 |
Acquired Partial Lipodystrophy |
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Lymphocytosis |
ORPHA:79087 |
Metatropic Dysplasia |
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Kyphosis, Joint stiffness, Severe short stature, Coarse metaphyseal trabecularization, Camptodact... |
ORPHA:2635 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Osteopenia, Scoliosis, Joint laxity, Premature osteoarthritis, Atrophic scars, Increase... |
OMIM:130060 |
Acheiropodia |
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Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Marden-Walker Syndrome |
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Kyphosis, Joint contracture of the hand, Inguinal hernia, Micropenis, Hypospadias, Short neck, Sc... |
OMIM:248700 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
47,Xyy Syndrome |
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Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... |
ORPHA:8 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Osteopenia, ... |
ORPHA:2965 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Slender build, Failure to thrive, Kyphosis, Muscle fiber necrosis, Torticollis, Spinal rigidity, ... |
OMIM:254090 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Decreased adiponectin level, Skeletal muscle hypertrophy, Loss of glu... |
ORPHA:435651 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|