Thyroid Cancer, Nonmedullary, 2 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma |
OMIM:188470 |
Thyroid Cancer, Nonmedullary, 5 |
|
Non-medullary thyroid carcinoma |
OMIM:616535 |
Thyroid Carcinoma, Familial Medullary |
|
Medullary thyroid carcinoma |
OMIM:155240 |
Thyroid Cancer, Nonmedullary, 3 |
|
Non-medullary thyroid carcinoma |
OMIM:606240 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:609698 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty |
OMIM:615961 |
Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:300123 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... |
ORPHA:411590 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism, Short stature |
OMIM:275120 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... |
OMIM:275100 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... |
OMIM:620211 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... |
ORPHA:1227 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Short stature |
OMIM:618625 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... |
OMIM:616784 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hypogonadism... |
ORPHA:3363 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility |
OMIM:264300 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Athyreosis |
|
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature |
ORPHA:95713 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Senso... |
ORPHA:3152 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... |
OMIM:614450 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... |
ORPHA:3416 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Bangstad Syndrome |
|
Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility |
ORPHA:752 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hyperlordosis, Kyphosis, Micrognath... |
OMIM:300831 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
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 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Aggressive behavior, Short neck, Elbow flexion contr... |
OMIM:616809 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2349 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hy... |
OMIM:612526 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, P... |
ORPHA:95496 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Congenital hypothyroidism |
ORPHA:96183 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300425 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism |
OMIM:619851 |
Autism |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:607373 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1882 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent fingertip pads, Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion ... |
ORPHA:391372 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... |
ORPHA:163634 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... |
ORPHA:1332 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism |
ORPHA:88643 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Hypothyroidism |
OMIM:619908 |
Li-Campeau Syndrome |
|
Cryptorchidism, Hypothyroidism, Short stature |
OMIM:619189 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Intrauterine ... |
OMIM:618347 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... |
OMIM:616648 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... |
OMIM:612462 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Hypothyroidism, Se... |
OMIM:600430 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... |
ORPHA:3344 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2491 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hyperactivity, Sandal gap, Craniosynostosis, Short neck, Ext... |
ORPHA:254346 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Elevated circulating thyroid-stimulating hormone concentration, Sh... |
OMIM:101800 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Micrognathia, Abnormal repetitive mannerisms, Sensorineural hearing i... |
ORPHA:2479 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Tapered finger, Aggressive be... |
OMIM:609425 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Small for gestational age, Asymmetry of the ears, Overweight... |
OMIM:617796 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Osteoporosis, Obesity, Short metatarsal, Pseudohypoparat... |
OMIM:103580 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... |
ORPHA:2994 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Hypothyroidism, ... |
ORPHA:363528 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia, Abnormal repet... |
OMIM:610883 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:608636 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Increased skull ossification, Optic atrophy, Self-injurious behavior |
OMIM:619690 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Micrognathia, Cryptorchidism, Repetitive compulsive beh... |
ORPHA:352490 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenome... |
ORPHA:79237 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Brachydactyly, Hitchhiker thumb, Intervertebral space narrowing, Micrognathia, ... |
OMIM:614078 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:261229 |
4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyp... |
ORPHA:970 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... |
ORPHA:320401 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Small hand, Short foot, Self-injurious behavior, Arthrogryposis multiplex congenita, Abnormal rep... |
OMIM:615282 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, C... |
OMIM:616817 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Joint laxity, Abnormal repetitive mannerisms |
OMIM:606053 |
Seckel Syndrome 7 |
|
Intrauterine growth retardation, Severe short stature, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Conductive hearing impairment, Pathologic fracture, Thin bo... |
OMIM:174810 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism |
ORPHA:1923 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Abnormal repet... |
ORPHA:819 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hyperactivity, Cryptorchidism, Short metatarsal, Advanced os... |
OMIM:614613 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... |
OMIM:240300 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosi... |
ORPHA:391408 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:95717 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone ... |
ORPHA:398079 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... |
ORPHA:77296 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... |
ORPHA:3047 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Azoo... |
OMIM:615234 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Adducted thumb, Dysphagia, Abnormal motor evoked potentials, Hypogonadism, Infert... |
ORPHA:412057 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... |
OMIM:241530 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Brachydactyly, Abnormal morphology of the radius, Abnor... |
ORPHA:950 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Familial Hyperprolactinemia |
|
Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal scler... |
ORPHA:2905 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism, Short stature |
OMIM:619013 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Cryptorchidism, Anemia, Talipes equinovarus, Low-set ears, Camptodactyly, Decreased c... |
OMIM:608104 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism |
ORPHA:99927 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypothyroidis... |
ORPHA:3258 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Small for gestational age, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th fing... |
ORPHA:397590 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short stature, Abnormality of the t... |
ORPHA:209905 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Short stature |
OMIM:618999 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Sensorineural hearing impairment,... |
OMIM:609616 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Mesomelia, ... |
ORPHA:2631 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1563 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Atelis Syndrome 1 |
|
Glue ear, Lumbar kyphosis, Anemia, Leukopenia, Microtia, Attention deficit hyperactivity disorder... |
OMIM:620184 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Sensorineural hearing impairment, Hypsarrhythmia, Iron deficiency anemia, Low-set e... |
OMIM:607906 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... |
ORPHA:96179 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Premature ovarian insufficiency, Streak ovary, Arachnodactyly, Increased circulating ... |
ORPHA:243 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Laron Syndrome |
|
Delayed menarche, Decreased serum insulin-like growth factor 1, Limb undergrowth, Short long bone |
OMIM:262500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... |
OMIM:615952 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abnormal re... |
ORPHA:449291 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Micrognathia, Limitation of j... |
ORPHA:1486 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615109 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Hypothyroidism, Short phalanx of f... |
ORPHA:221008 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Delayed puberty, Type I ... |
ORPHA:213 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... |
ORPHA:300298 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi... |
OMIM:193700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Compulsive behaviors, Hypotha... |
ORPHA:398069 |
Ollier Disease |
|
Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi... |
ORPHA:296 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Seco... |
OMIM:613313 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... |
OMIM:607944 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Cranial hyper... |
ORPHA:457240 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc... |
ORPHA:739 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Decreased nerve conduction ... |
ORPHA:2928 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Coxa valga, ... |
ORPHA:2484 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Posteriorly rotated ears, Small for gestational age, D... |
OMIM:616897 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism |
ORPHA:352530 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hypercholesterolemia, Hypertriglyceridemia, Hyp... |
ORPHA:528 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Absent thumb, Shor... |
OMIM:609053 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Small for gestational... |
OMIM:616229 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hearing impairment, Abnormality of the thyroid gland, Abnormal repetitive manneris... |
OMIM:182290 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, Macrotia, 2-... |
ORPHA:391307 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Abnormal repetitive... |
OMIM:619470 |
Ddost-Cdg |
|
Short stature, Primary hypothyroidism |
ORPHA:300536 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteopor... |
OMIM:184260 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
48,Xxyy Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Abnormal shoulder morphology, Joint hype... |
ORPHA:10 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal amplitude of pattern reversal visual evoked potentials, Progressive sensorineural hearin... |
OMIM:125250 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Thoracolumbar kyphosis, Optic atrophy, Hypoplastic ver... |
OMIM:230600 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes... |
ORPHA:231222 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Diabetes mellitus, Congenital sensorineural hearing impairment, Sensorineural heari... |
ORPHA:500159 |
Acrocephalopolydactyly |
|
Short neck, Hepatosplenomegaly, Short long bone, Microtia, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Posteriorly rotated e... |
OMIM:613385 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow... |
OMIM:278000 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... |
OMIM:616222 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Short neck, Obesity, Decreased fertility, Clinod... |
ORPHA:870 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Abnormal vertebral morphology, Attention deficit hyperactivity di... |
OMIM:618709 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Congenita... |
ORPHA:456312 |
Autoimmune Thyroid Disease, Susceptibility To, 3 |
|
Thyroiditis |
OMIM:608175 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Short stature |
OMIM:619750 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide distal femoral met... |
OMIM:613320 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism, Short stature |
ORPHA:254913 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abn... |
OMIM:615541 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe... |
ORPHA:2965 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms, Scoliosis |
OMIM:617393 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Christianson Syndrome |
|
Cachexia, Joint hyperflexibility, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex con... |
ORPHA:85278 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Nephrotic Syndrome, Type 1 |
|
Growth delay, Hypothyroidism |
OMIM:256300 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... |
OMIM:176920 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Micrognathia, Generalized osteosclerosis, ... |
ORPHA:763 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Hypogonadotropic hypogonadism, Cryptorch... |
ORPHA:432 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Joint hyper... |
OMIM:620065 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Abnor... |
ORPHA:453499 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Hypogonadi... |
ORPHA:98673 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnorm... |
ORPHA:93160 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Self-injurious behavior... |
ORPHA:238750 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype... |
ORPHA:3206 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Hearing abn... |
ORPHA:1842 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:300495 |
Reni Syndrome |
|
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Metatarsus adductus, Self-biting, Microtia, Stereotypical body ... |
ORPHA:293939 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperfl... |
ORPHA:2772 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, M... |
OMIM:211750 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc... |
ORPHA:177 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation te... |
ORPHA:488632 |
Lig4 Syndrome |
|
Growth delay, Cryptorchidism, Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Microm... |
ORPHA:93329 |
Lig4 Syndrome |
|
Cryptorchidism, Hypothyroidism, Type II diabetes mellitus, Amenorrhea |
OMIM:606593 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... |
ORPHA:231226 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Hearing impairment |
OMIM:560000 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered f... |
OMIM:300998 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Thoracic kyph... |
OMIM:618440 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
Chromosome 1P35 Deletion Syndrome |
|
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Increas... |
OMIM:617930 |
Neuhauser Syndrome |
|
Osteopenia, Arachnodactyly, Micrognathia, Cupped ear, Genu valgum, Large fleshy ears, Primary hyp... |
OMIM:249310 |
Monosomy 18P |
|
Hypothyroidism, Short stature |
ORPHA:1598 |
Fragile X Tremor/Ataxia Syndrome |
|
Premature ovarian insufficiency, Impotence, Disinhibition, Obsessive-compulsive trait, Hypothyroi... |
OMIM:300623 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature |
OMIM:617763 |
Coffin-Siris Syndrome 7 |
|
Brachydactyly, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Sagittal craniosy... |
OMIM:618027 |
Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Hyperlordosis, Hepatosplenomegaly, Abnormal diaphysis morp... |
ORPHA:354 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Macrocephaly-Developmental Delay Syndrome |
|
Microretrognathia, Craniosynostosis, Hepatosplenomegaly, Abnormal speech discrimination, Self-inj... |
ORPHA:397612 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Hyperactivity, Small for gestational age, Abnorm... |
OMIM:123450 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Allan-Herndon-Dudley Syndrome |
|
Cryptorchidism, Short stature, Abnormality of thyroid physiology |
ORPHA:59 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Baker-Gordon Syndrome |
|
Joint laxity, EEG abnormality, Self-injurious behavior, Scoliosis, Abnormal repetitive mannerisms |
OMIM:618218 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, ... |
ORPHA:1035 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... |
OMIM:620186 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Back pain, Toe syndactyly, Lumbar hyperlordosis, Decreased response to growth hormo... |
OMIM:619234 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cryptorchidism, Hypothyroidism, Short stature |
ORPHA:85321 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... |
ORPHA:2166 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi... |
OMIM:614114 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Cryptorchidism, Kyphosis, Hip dislocation, Protruding ear, Join... |
ORPHA:96169 |
Image Syndrome |
|
Metaphyseal dysplasia, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism, Low-set ears |
ORPHA:85173 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Hip dislocation, Neutropenia, Limb undergrowth, Joint contracture, Fa... |
OMIM:618005 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Mild intrauterine growth retardation, Short stature, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the autonomic nervous system, ... |
ORPHA:330015 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l... |
ORPHA:508533 |
Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for ... |
OMIM:614104 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Craniosynostosis, Long fingers, Self-injurio... |
OMIM:613174 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Hyperostosis, Abnormal pelvic girdle ... |
OMIM:144750 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... |
ORPHA:1667 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets, Bilateral sensorineural hearing impairment |
OMIM:602722 |
Adiposis Dolorosa |
|
Xerostomia, Hypothyroidism |
ORPHA:36397 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... |
ORPHA:313892 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, K... |
OMIM:212065 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Failure to thrive, Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Proximal p... |
OMIM:212066 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Delayed puberty |
ORPHA:633 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Failure to thrive in infancy, Tapered finger, Micrognathia, Protruding ... |
OMIM:618829 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Osteoporosis, Optic atrophy, Hepatosplenomegaly, Weight los... |
OMIM:619487 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Progressive flexion contractures, Talipes equinovarus... |
ORPHA:98808 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar... |
OMIM:619638 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Anorexia, Vertebral clefting, Increased suscept... |
OMIM:241500 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight |
OMIM:614063 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... |
ORPHA:769 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnor... |
ORPHA:1803 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Micrognathia, Sensorineural hearing impairment, Bruxism, Prot... |
OMIM:618342 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Joint stiffness, Abnormality of the humerus, Micrognathia, Abnormal ti... |
ORPHA:2496 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Posteriorly rotated ears, Micromelia, Bowing of the legs, Hypoplastic ilia, Cry... |
ORPHA:1865 |
Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Facial palsy, Short neck, Precocious puberty, Hyperlordosis, Kypho... |
ORPHA:58 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Tics, Low-set ears, Attention deficit hyp... |
OMIM:617808 |
Thanatophoric Dysplasia |
|
Brachydactyly, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint... |
ORPHA:2655 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
OMIM:606069 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... |
OMIM:259050 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetitive manner... |
OMIM:618906 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Low-set ears, Ove... |
OMIM:619092 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Omenn Syndrome |
|
Hypothyroidism, Thyroiditis |
ORPHA:39041 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Abnormal repetitive mannerisms, Generalized joint laxity, Acetabular dysplasia |
ORPHA:280763 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner... |
OMIM:619150 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal antihelix mor... |
ORPHA:2145 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Abnormal 5th finger ... |
ORPHA:1439 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Overfriendliness, Posteriorly rotated ears, Tapered finger, Cryptorchidism, Flexion... |
OMIM:619293 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Macrotia, Bulimia, Central hypothyroidism, Hypsarrhythmia, Se... |
OMIM:300912 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory ... |
ORPHA:909 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Hypothyroidism |
OMIM:619147 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... |
ORPHA:2636 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Microform Holoprosencephaly |
|
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... |
ORPHA:280200 |
Monosomy 18Q |
|
Failure to thrive, Arachnodactyly, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, Hypo... |
ORPHA:1600 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:618922 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... |
OMIM:176270 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Protruding ear, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Protruding ear, ... |
ORPHA:363958 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Limitation of ... |
ORPHA:1801 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Abnormal repetitive manneri... |
OMIM:620073 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Intrauterine growth retardation, Hypothyroidism |
OMIM:617713 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Short neck, H... |
ORPHA:2616 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Thoracolumbar scoliosis, Sagittal craniosynostosis, Splenomegaly, ... |
OMIM:610199 |
Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactiv... |
OMIM:617695 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Growth delay, Hypothyroidism |
ORPHA:66634 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Shor... |
ORPHA:93299 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... |
OMIM:601457 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Impulsivity, Tapered finger, Aggressive behavior, Cryptorchidism, Hi... |
OMIM:619435 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Obesity, Hand polydactyly, Atte... |
ORPHA:261197 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... |
ORPHA:412 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyp... |
ORPHA:530983 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Central hypothyroidism, Progressiv... |
ORPHA:514 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po... |
ORPHA:453504 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Hypothyroidism |
OMIM:226300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po... |
ORPHA:352665 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Joint stiffness, Hypoplastic il... |
ORPHA:1860 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Cryptorchid... |
OMIM:616331 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Arthritis, B lymphocytopenia, Recurrent otitis media, Failure to thrive, Hearing im... |
ORPHA:397596 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Dysphagia, Short foot, Agitation, Scoliosis, Bruxism, Abnormal repetitive m... |
OMIM:617435 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Truncal obesity, Limb underg... |
OMIM:616541 |
Achondrogenesis |
|
Micromelia, Micrognathia, Short neck, Abnormal enchondral ossification, Abnormality of bone miner... |
ORPHA:932 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Rickets, Optic atrophy,... |
OMIM:268315 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short neck, Conductive hearing impairment, S... |
ORPHA:1001 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo... |
ORPHA:1597 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly |
ORPHA:1277 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Short foot, Talipes equin... |
ORPHA:93298 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Overlapping toe, Splenomegaly, Exocrine pancreatic insufficiency, Hip dislocation, ... |
OMIM:618268 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed pube... |
OMIM:616263 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane... |
ORPHA:2909 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlo... |
ORPHA:2637 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M... |
OMIM:620005 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:618183 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemia, Infer... |
OMIM:212750 |
Oculodentodigital Dysplasia |
|
Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodies, Clinodactyly of the ... |
ORPHA:2710 |
Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Aggressive behavior, Obesity... |
OMIM:618430 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Tibial bowing, Myeloid leukemia, Streak ovary, Wide anterior fontanel, ... |
ORPHA:798 |
Aicardi-Goutieres Syndrome 1 |
|
Short stature, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
Sclerosteosis 1 |
|
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Irregular menstruation, 2-3 finger syn... |
OMIM:269500 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Scoliosis, Recurrent... |
OMIM:617751 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypothyroidism |
OMIM:603736 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Low-set, posteriorly rotated ears, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neu... |
ORPHA:228426 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Sandal gap, Proximal pla... |
ORPHA:79324 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth ho... |
ORPHA:1855 |
Martin-Probst Syndrome |
|
Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Hypothyroidism |
OMIM:300519 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Scoliosis, Bruxism, Decreased body weight, Abnormal repetitive mannerisms, Paroxy... |
ORPHA:561854 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Tapered finger, EEG with burst suppression, Congenital hypothyroidism, Hypsarrhythmia, Hand clenc... |
OMIM:616973 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu... |
ORPHA:221016 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Clinodactyly of the 5th finger, Conductive hearing impairment, Hypothy... |
ORPHA:1606 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type II diab... |
OMIM:615812 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Short neck, Metaphyseal... |
OMIM:612813 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Hypothyroidism |
ORPHA:445038 |
Multiple Endocrine Neoplasia, Type Iib |
|
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... |
OMIM:162300 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab... |
OMIM:617102 |
Whipple Disease |
|
Cachexia, Anorexia, Splenomegaly, Arthritis, Erectile dysfunction, Polydipsia, Hypothyroidism, An... |
ORPHA:3452 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Osteoporosis, Facial diplegia, Dysphagi... |
ORPHA:254892 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Thanatophoric Dysplasia Type 2 |
|
Hearing impairment, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, P... |
ORPHA:93274 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Pelviscapular Dysplasia |
|
Brachydactyly, Congenital hip dislocation, Abnormal pinna morphology, Short femur, Hypoplastic sc... |
ORPHA:93333 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... |
OMIM:619260 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, ... |
OMIM:617527 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Abnormal morphology... |
ORPHA:2633 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm |
ORPHA:168555 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... |
ORPHA:2457 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:606367 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Micrognathia, Protruding ear, Compulsive behaviors, Chronic otitis media, Ab... |
ORPHA:534 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, Hyperlordosis, 2-3 toe s... |
OMIM:618870 |
Wilson Disease |
|
Back pain, Abnormality of the menstrual cycle, Aggressive behavior, Splenomegaly, Hypersexuality,... |
ORPHA:905 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Impulsivity, Tapered finger, Precocious puberty, Aggressive behavior, Micrognathia... |
OMIM:619312 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Posteriorly rotated ears, Unilateral cryptorchidism, Arachnodactyly, Femur ... |
OMIM:605822 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Advanced ossification of carpal bones, Obesity, Recu... |
OMIM:616831 |
Secondary Short Bowel Syndrome |
|
Growth delay, Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Sensorineural hearing impairment, Optic ... |
ORPHA:79330 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypothyroidism, Supernumerary nipple, Hypohidrosis |
ORPHA:1812 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Cryptorchidism, 2-3 toe cutaneous syndactyly, Repetitive compulsive behavior, Bruxism, Dysphagia,... |
OMIM:300260 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Kleefstra Syndrome 1 |
|
Brachydactyly, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Obesity, Talipes e... |
OMIM:610253 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... |
ORPHA:3240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Arachnodactyly, Aggressive behavior, Hyperlordosis, Micrognathia, Self-injurious be... |
OMIM:300986 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal earlobe morphology, Bifi... |
ORPHA:2769 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Sensorineural hearing impairment, Rickets, Increased susceptibili... |
ORPHA:18 |
White-Sutton Syndrome |
|
Joint laxity, Overfriendliness, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, ... |
OMIM:616364 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Impulsivity, Aggressive behavior, Micrognathia, Cupped ear, 2-3 toe syndactyly, Self-... |
OMIM:618914 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Sacral dimple, Failure to thrive in infa... |
ORPHA:261323 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly ... |
ORPHA:800 |
Cockayne Syndrome A |
|
Hip contracture, Anhidrosis, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decr... |
OMIM:216400 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavior, Hip dysplasia, Sh... |
ORPHA:228402 |
Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi... |
ORPHA:468699 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Aggressive behavior, Kyphosis, Micrognathia, 2-3 toe syndactyly, Self... |
OMIM:617061 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Short stature, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adreno... |
ORPHA:672 |
Gapo Syndrome |
|
Dysmenorrhea, Micrognathia, Optic atrophy, Amenorrhea, Abnormal form of the vertebral bodies, Oli... |
ORPHA:2067 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, 2-3 toe syndactyly, Low-set ears |
OMIM:613443 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Micrognathia, Dysphagia, Bilateral conductive hearing impairment, Low-... |
OMIM:617802 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Hypergonadotropic hypogonadism, Short fifth met... |
ORPHA:79444 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Chronic neutropenia, Osteoporosis, Irregular menstruation, Gout, Increased susceptibi... |
ORPHA:79259 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... |
OMIM:617675 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... |
ORPHA:166272 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Tapered finger, Optic atrophy, Prominent antihelix, Hip dysplasia, Bilateral tal... |
OMIM:617807 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Flexion contracture, EEG with focal sharp waves, Hypsarrhythmia, EEG w... |
ORPHA:79243 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Irregular mens... |
OMIM:616482 |
Cockayne Syndrome B |
|
Anhidrosis, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potent... |
OMIM:133540 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... |
OMIM:109120 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Micrognathia, Abnor... |
OMIM:615656 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Posteriorly rotated ears, Sandal gap, Overweight, Small hand, Obesity... |
OMIM:619229 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Kyphosco... |
OMIM:309583 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia, Anemia |
ORPHA:2668 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked ... |
ORPHA:171929 |
Kinsship Syndrome |
|
Osteopenia, Sacral dimple, Coxa valga, Short neck, Micrognathia, Hip dislocation, Bruxism, Fibula... |
OMIM:619297 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Low-set ears, Limb und... |
OMIM:225410 |
Immunodeficiency 31C |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... |
OMIM:614162 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
Mend Syndrome |
|
Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials,... |
ORPHA:401973 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia |
OMIM:600972 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Abnormal repetitive mannerisms, Hypothyroidism, Simple ear, Joint l... |
OMIM:619325 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Self-injurious behavior, Clinodactyly of the 5th finger, Prominent fingertip pads, ... |
OMIM:615637 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Macrotia, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... |
ORPHA:3121 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Alazami Syndrome |
|
Abnormal eating behavior, Slender long bone, Low-set ears, Scoliosis, Abnormal repetitive manneri... |
ORPHA:319671 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Short palm, S... |
OMIM:249420 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked... |
ORPHA:99027 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... |
OMIM:620141 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypot... |
ORPHA:268261 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Conductive hearing impairment, Chronic otitis... |
ORPHA:567 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Cryptorchidism, O... |
ORPHA:90321 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Head-banging, Short 4th t... |
OMIM:618569 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... |
ORPHA:502423 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Bon... |
OMIM:301078 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Failure to thrive, Rickets |
OMIM:211600 |
Hall-Riggs Syndrome |
|
Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor... |
ORPHA:2107 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Obesity, Primary amenorrhea, Hip dysplasia, Microtia, Limb undergrowt... |
ORPHA:319675 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repe... |
OMIM:618917 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
2-3 toe syndactyly, Short foot, Bruxism, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:616351 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Low-set, posteriorly rotated ears, Male infertility, Hallux valgus, Streak ovary, Unilateral cryp... |
ORPHA:1772 |
Microphthalmia, Syndromic 6 |
|
Uplifted earlobe, Adrenal hypoplasia, Micrognathia, Protruding ear, Clinodactyly of the 5th finge... |
OMIM:607932 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Thickened helices, Clinodactyly of the 5th finger, Conductive hearing impairment, Hypothyroidism,... |
OMIM:607872 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ... |
ORPHA:50945 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... |
ORPHA:2249 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Optic nerve hypoplasia, Hyperlordosis, Abnormal T cell subset distribution, Protrudin... |
ORPHA:221139 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, EEG with parietal epileptiform discharges, Hip dislocation, Hypsarrhythmia, Continu... |
OMIM:619428 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Aggressive behavior, Micrognathia, Tongue thrusting, 2-3 toe syndactyly, Protrudin... |
OMIM:606232 |
Pitt-Hopkins Syndrome |
|
Prominent fingertip pads, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacra... |
OMIM:610954 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
22Q11.2 Duplication Syndrome |
|
Micrognathia, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... |
ORPHA:1727 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Optic atrophy, Hepatosplenomegaly, Knee flexion contracture, Camptodact... |
ORPHA:79322 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Neutropenia, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Anemia |
OMIM:618067 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Sacral dimple, Aggressive behavior, Prominent crus of helix, Mic... |
OMIM:619695 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ... |
ORPHA:1798 |
Bilateral Polymicrogyria |
|
Micrognathia, Sensorineural hearing impairment, Central hypothyroidism, Facial diplegia, Abnormal... |
ORPHA:268940 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Osteolysis, Acute lymphoblastic leukemia, Clinod... |
ORPHA:1052 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Micrognathia, Metatarsu... |
ORPHA:300570 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... |
ORPHA:550 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Fail... |
OMIM:613501 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Attention deficit hyperactivity disorder, Low-set ears, Scoliosis, Abnormal repetit... |
OMIM:618205 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Abnormality of thyroid physiology, Disproportionate short-trunk short stature, Gro... |
ORPHA:1830 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Posteriorly rotated ears, Small for gestational age, Craniosynostosis, Sandal gap,... |
ORPHA:506358 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Tapered finger, Precocious puberty, Abn... |
OMIM:301066 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Posteriorly rotated ears, ... |
ORPHA:171866 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Micromelia, Micrognathia, Meta... |
ORPHA:35107 |
H Syndrome |
|
Hallux valgus, Histiocytosis, Diabetes mellitus, Recurrent fractures, Microcytic anemia, Delayed ... |
ORPHA:168569 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Low-set ears, Overlapping... |
OMIM:615966 |
7Q11.23 Microduplication Syndrome |
|
Short neck, Micrognathia, Hemivertebrae, Abnormal optic disc morphology, Chronic otitis media, Ab... |
ORPHA:96121 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, 2-3 toe syndactyly, ... |
OMIM:618162 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... |
OMIM:619662 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Sensorineur... |
OMIM:301040 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Tapered finger, Repetitive compulsive behavior, Optic atrophy, Protruding... |
ORPHA:401777 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Impotence, Hypothyroidism |
ORPHA:93256 |
Lymphatic Malformation 6 |
|
Hydrocele testis, Hypothyroidism, Short stature |
OMIM:616843 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Abnormal vertebral mo... |
ORPHA:444077 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... |
OMIM:224400 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Micrognathia, Cryptorchidism, Small hand, Reduced bone mineral density, Shor... |
ORPHA:2108 |
Transketolase Deficiency |
|
Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:488618 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Sensorineural hearing impairmen... |
ORPHA:79107 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormal repe... |
OMIM:194190 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog... |
ORPHA:93111 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Short neck, Humeroradial synostosis, M... |
OMIM:251230 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... |
OMIM:608049 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets, Failure to thrive |
ORPHA:2088 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... |
OMIM:615617 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, Scoliosis, EEG with spike-wav... |
OMIM:619317 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Tapered finger, Attention deficit hyperactivity disorder, Scoliosis, Obsessi... |
OMIM:618825 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Posteriorly rotated ears, Abnormality of thyroid physiology, Postaxi... |
OMIM:300968 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Congenital hip dislocation, Posteriorly rotated ears, Hyperactivity, Micrognat... |
OMIM:619512 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Splenomegaly, Flexion contracture, Microt... |
OMIM:608149 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal o... |
OMIM:219090 |
Kleefstra Syndrome |
|
Thickened helices, Aggressive behavior, Cryptorchidism, Self-mutilation, Limitation of joint mobi... |
ORPHA:261494 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Attention deficit hyperactivity d... |
OMIM:301029 |
Myasthenia Gravis |
|
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis |
ORPHA:589 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spl... |
OMIM:219800 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism |
ORPHA:30391 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Protruding ear, Abnormal repetitive mannerisms, Hyperactivity,... |
OMIM:309590 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent otitis media, Failure to thrive |
ORPHA:277 |
Down Syndrome |
|
Joint laxity, Short palm, Sandal gap, Aganglionic megacolon, Short middle phalanx of the 5th fing... |
OMIM:190685 |
White-Kernohan Syndrome |
|
Joint laxity, Obesity, Hip dysplasia, Low-set ears, Attention deficit hyperactivity disorder, Rec... |
OMIM:619426 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Optic disc pallor, Multiple joint contr... |
ORPHA:468631 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Parathyroid hyperplasia, Elevated circulating parathyroid hormone l... |
OMIM:612089 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem... |
OMIM:214800 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology |
ORPHA:563 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Abnormal optic disc morph... |
ORPHA:508498 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Arachnodactyly, Micrognathia, Precocious p... |
OMIM:615485 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... |
ORPHA:275761 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy |
OMIM:616881 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... |
OMIM:620305 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperactivity, Sacral dimple, Rhizomelia, Decreased response to g... |
ORPHA:319182 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Hyperthyroidism, Cachex... |
ORPHA:37042 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Hyperactivity, Irregularity of vertebral bodies, Impulsivity, Aggressi... |
ORPHA:580 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Micromelia, Low-set ears, Camptodactyly |
OMIM:610015 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Hyperactivity, Multiple joint contractures, Small for gestation... |
ORPHA:464306 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Scoliosis, Hypothy... |
ORPHA:1556 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin... |
ORPHA:391487 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Optic neuropathy, Increased intervertebral space, Broa... |
OMIM:619727 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Rett Syndrome |
|
EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin,... |
ORPHA:778 |
Hypertrichosis Cubiti |
|
Joint hyperflexibility, Rhizomelia, Micromelia |
ORPHA:2220 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Small hand, Short foot, Spina bifida occulta, ... |
ORPHA:488434 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, Osteopetrosis, ... |
OMIM:612301 |
Developmental And Epileptic Encephalopathy 64 |
|
Micrognathia, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive mannerisms |
OMIM:618004 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ... |
ORPHA:2021 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Contracture of the proximal i... |
OMIM:300166 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial b... |
ORPHA:96334 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmen... |
ORPHA:904 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Short neck, Micrognathia, Otitis media, Clinodactyly of ... |
OMIM:122470 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Compulsive beh... |
OMIM:615873 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Optic disc pallor, Abnormality of the endocrine system, Cryptorchidism,... |
ORPHA:438213 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... |
OMIM:617565 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:90796 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Cryptorchidism, Ky... |
OMIM:309000 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:191100 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Hyperhidrosis, Dysphagia, Abnormal repetitive mann... |
ORPHA:79264 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Failure to thrive, Rickets |
OMIM:607765 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Han... |
OMIM:619580 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Low-set ears, Abnormal repetitive mannerisms, Joint hypermobility, Overfriendliness |
OMIM:616579 |
White-Sutton Syndrome |
|
Joint laxity, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Short neck, Abnormal ... |
ORPHA:468678 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... |
ORPHA:293978 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Anemia |
OMIM:611489 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Arachnodactyly, Slender build, Attention deficit hyperactivity disorder, Scoliosis... |
OMIM:617600 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Hyperthyroidism, Short mandibular rami, Micrognat... |
OMIM:170390 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Micromelia, Short neck, Abnormal circulating calcium-phosph... |
ORPHA:50810 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Kyphoscoliosis, Acanthocytosis, Talipes equinovarus, Failure to thri... |
ORPHA:14 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Aggressive behavior, Kyphosi... |
ORPHA:476126 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Cryptorchidism, 2-3... |
OMIM:107480 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, Facial diplegia, Attention ... |
OMIM:619121 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea... |
ORPHA:87 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Sho... |
OMIM:224410 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Abnormality of the cervical spine, Small for ge... |
ORPHA:464311 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... |
OMIM:300352 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism |
OMIM:615486 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Aggressive behavior, Wide anterior fontanel, Low-set ears, Contractur... |
ORPHA:457279 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
Cowden Syndrome |
|
Short stature, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... |
ORPHA:201 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Micrognathia, Fractures of the long bones, Optic atrophy, Scoliosis, ... |
ORPHA:496641 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy... |
OMIM:619503 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Decreased proportion... |
OMIM:618048 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Asymmetry of the ears, EEG with burst suppression, Flexion contracture, Hypsar... |
OMIM:619124 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, ... |
ORPHA:699 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Decreased nerve conduction velocity, Thromboc... |
OMIM:277900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... |
OMIM:102700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Hypercholester... |
OMIM:248370 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... |
OMIM:608328 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Sotos Syndrome |
|
Flexion contracture, Conductive hearing impairment, Chronic otitis media, Hypothyroidism, Abnorma... |
ORPHA:821 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Anorexia, Splenomegaly, Weigh... |
OMIM:619381 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retroversion, Bowing of... |
OMIM:610682 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears... |
OMIM:619575 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate... |
ORPHA:97360 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of the dista... |
ORPHA:83617 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Broad hallux, Sandal gap, Micrognathia, Mesomelia, Low-set ears, Campto... |
OMIM:618529 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia |
OMIM:619471 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth |
ORPHA:1861 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... |
ORPHA:457351 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Micromelia, Asplenia, Cryptorchidism, Short neck, Li... |
ORPHA:99776 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... |
ORPHA:2879 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... |
ORPHA:93325 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... |
ORPHA:177907 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Leprechaunism |
|
Enlarged ovaries, Postnatal growth retardation, Hyperinsulinemia, Central hypothyroidism, Hyperal... |
ORPHA:508 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hyp... |
ORPHA:251510 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Genitopatellar Syndrome |
|
Hip contracture, Brachydactyly, Congenital hip dislocation, Micrognathia, Cryptorchidism, Hypothy... |
OMIM:606170 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Rickets, Large for gestational age |
OMIM:616026 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, Repetiti... |
ORPHA:522077 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hallux valgus, Diabetes mellitus, Failure to thrive in infancy, Down-sl... |
OMIM:194050 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:613254 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, B lymphocyto... |
OMIM:615518 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Brachydactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Mes... |
OMIM:616894 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Increased suscept... |
ORPHA:404454 |
Aspartylglucosaminuria |
|
Macroorchidism, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Microtia, ... |
ORPHA:93 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Self-mutilat... |
OMIM:270400 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... |
ORPHA:168491 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Brachydactyly, Thrombocytopenia, Reticulocytopenia, Leukopenia, ... |
ORPHA:508542 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Low-set ears |
OMIM:614069 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... |
OMIM:241800 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Abnormal antihelix morphology, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:261144 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Short stature, Intrauterine growth retardation |
ORPHA:84064 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Abnormality of thyroid physiology |
ORPHA:411629 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Digeorge Syndrome |
|
Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognat... |
OMIM:188400 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Micrognathia, Cryptorchidism, Kyphosis, Increased femoral ant... |
OMIM:619005 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short... |
OMIM:263650 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Attention deficit hyperactivity... |
OMIM:620242 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequent te... |
OMIM:619103 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... |
OMIM:618987 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Abnormal pinna morphology, Posteriorly rotated ears, Bowing of the legs, Sh... |
OMIM:269860 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Protruding ear, Abnormal curvature of the vertebral column, Tics, Otitis media, Compul... |
OMIM:619475 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Short neck, Micrognathia, Compulsive behaviors, Clinodac... |
ORPHA:199 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Tongue thrusting, Protruding ear, EEG abnormality, Talipes equinovarus, Scoliosis, Brux... |
OMIM:613454 |
Acrocardiofacial Syndrome |
|
Cryptorchidism, Hyperthyroidism, Intrauterine growth retardation |
ORPHA:2008 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism |
ORPHA:480864 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter |
OMIM:620189 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Hyperactivity, Microgna... |
OMIM:251260 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529799 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... |
ORPHA:1507 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Impulsivity, Protruding ear, Microtia, Short middle... |
OMIM:301030 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Macrotia, Prominent antihelix, Inappropriate laughter, Failure to thrive, Abnormal re... |
OMIM:615802 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism,... |
OMIM:613457 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Conductive hearin... |
ORPHA:353281 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Absent circulating B cells, Delayed pubert... |
OMIM:307200 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Posteriorly rotated ears,... |
OMIM:147920 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... |
OMIM:612651 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Triphalangeal thumb, Clinodactyly... |
ORPHA:79500 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral morphology, Hypothyroidis... |
ORPHA:857 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality |
ORPHA:206448 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Microg... |
ORPHA:2756 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Small for gestational age, Overlapping toe, Microcytic anemia, Leukocytosis, Microt... |
ORPHA:99843 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Aplasia/Hypoplas... |
ORPHA:2753 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Hypothyroidism |
ORPHA:411634 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia, Otitis media |
ORPHA:70593 |
Arboleda-Tham Syndrome |
|
Anteverted ears, Bilateral cryptorchidism, Chronic otitis media, Small earlobe, Prominent antitra... |
OMIM:616268 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Rickets, Reduced bone mineral ... |
OMIM:613658 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Micrognathia, Metatarsus adductus, Repetitive compulsive behavior, Osteopathia striata, Abnormal ... |
ORPHA:513456 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Abnormal repetitive mannerisms, Agitation |
ORPHA:927 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lym... |
ORPHA:51 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Micromelia, Short ne... |
ORPHA:508488 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... |
OMIM:268305 |
Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, ... |
OMIM:200995 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Hip dislocation, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Cryptorchidism, Obesity, 2-3 toe syndactyly, Low-set ears, Scoli... |
OMIM:618653 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Con... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Compulsive behaviors, Con... |
ORPHA:353277 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... |
OMIM:618986 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Hypothyroidism |
OMIM:615846 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo... |
ORPHA:3107 |
Sarcoidosis |
|
Hemolytic anemia, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Facial palsy, Thr... |
ORPHA:797 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlargement of parotid gland, Nodular goiter, ... |
ORPHA:79078 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Hyposegmentation of neutrophil nucl... |
OMIM:614800 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia... |
ORPHA:1908 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Precocious puberty, Cryptorchidism, Reduced bone mineral density, Scoliosis, Cli... |
OMIM:616682 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Viss Syndrome |
|
Micrognathia, Generalized joint laxity, Hypothyroidism, Joint laxity, Long toe, Microretrognathia... |
OMIM:619472 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Small hand, Hypsarrhythmia, Short foot, Scoliosis, Abnormal repetitive mannerisms... |
OMIM:300672 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Abnormality of the ear, Hypopl... |
ORPHA:3455 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Low... |
ORPHA:818 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia, Recurrent otitis media, Septic arthritis, Pros... |
OMIM:300755 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies, Slender long... |
OMIM:612731 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Sensorineural hearing impairment, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism, Osteomalacia |
OMIM:600740 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor |
ORPHA:363618 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Adrenocortical cytomegaly, Large for gestational age, Splenomegaly, Cryptorchidism,... |
ORPHA:116 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Broad hallux, 1-2 toe syndactyly, Tapered finger, Small hand, Overfolde... |
OMIM:301044 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Absent circulating B cells |
OMIM:620282 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Sensorineural hearing impairment,... |
ORPHA:649 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... |
ORPHA:2255 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Short neck, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Prominent fingertip pad... |
OMIM:612474 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Otitis m... |
OMIM:602450 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce... |
OMIM:241600 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... |
ORPHA:51608 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set... |
ORPHA:447997 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Abnormal fingertip morphology |
ORPHA:529965 |
Developmental And Epileptic Encephalopathy 100 |
|
Micrognathia, Bilateral camptodactyly, Elbow flexion contracture, EEG with photoparoxysmal respon... |
OMIM:619777 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Optic disc coloboma, Trapezoidal vertebral body, Short phalanx of f... |
OMIM:600092 |
African Trypanosomiasis |
|
Papilledema, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomegal... |
ORPHA:3385 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, ... |
OMIM:613610 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Short n... |
ORPHA:709 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Maternal diabetes, Short neck, Microg... |
ORPHA:3404 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, Protruding ear, Iron def... |
OMIM:300855 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Type II diabetes mellitus |
OMIM:604121 |
Ellis Van Creveld Syndrome |
|
Micromelia, Cryptorchidism, Capitate-hamate fusion, Acute leukemia, Genu valgum, Abnormal pelvic ... |
ORPHA:289 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Nail-biting, Posteriorly rotated ears, Sandal gap, Optic nerve hypoplasia, Aggressi... |
OMIM:620330 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Posteriorly rotated ears, Tapered finger, Cryptorchidism, Short thumb, Dysphagia, Hydr... |
OMIM:619522 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Cardioacrofacial Dysplasia 1 |
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Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Micrognathia, Cryp... |
OMIM:256520 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Aggressive behavior, Hair-pulling, Self-injurious behavior, Talipes equinovarus, Low-set ears, Br... |
OMIM:616393 |
Pilarowski-Bjornsson Syndrome |
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Prominent fingertip pads, Abnormal repetitive mannerisms |
OMIM:617682 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility |
OMIM:614935 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... |
ORPHA:98784 |
Klippel-Trénaunay Syndrome |
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Abnormality of the menstrual cycle, Microcytic anemia |
ORPHA:90308 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Micrognathia, 2-3 toe cu... |
OMIM:614756 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... |
ORPHA:99413 |
Mosaic Monosomy X |
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Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... |
ORPHA:99228 |
Monosomy X |
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Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... |
ORPHA:99226 |
Turner Syndrome |
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Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... |
ORPHA:881 |
Johanson-Blizzard Syndrome |
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Joint laxity, Diabetes mellitus, Small for gestational age, Splenomegaly, Sensorineural hearing i... |
OMIM:243800 |
Ring Chromosome 13 Syndrome |
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Growth delay, Hypoplasia of the gallbladder, Primary hypothyroidism |
ORPHA:96176 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia, Papillary thyroid carcinoma |
OMIM:118450 |
C Syndrome |
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Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Failure to thrive in infancy, M... |
ORPHA:1308 |
Hypermobile Ehlers-Danlos Syndrome |
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Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Vertigo, Osteoarthritis,... |
ORPHA:285 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Posteriorly rotated ears, Tapered finger, Cryptorchidism, Overfolded helix, Low-set ears, Dysphag... |
OMIM:617330 |
Immunodeficiency 36 With Lymphoproliferation |
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Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Mesomelic Dysplasia, Savarirayan Type |
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Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... |
OMIM:616084 |
Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms |
ORPHA:168782 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Schisis Association |
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Small for gestational age, Micromelia |
ORPHA:63862 |
Mowat-Wilson Syndrome |
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Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Conductive hearing imp... |
ORPHA:2152 |
Niemann-Pick Disease Type C |
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Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Disinh... |
ORPHA:646 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Abnormal repetitive ma... |
ORPHA:261537 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Epiphyseal dysplasia, Micromelia, Short neck, Multifocal epileptiform discharges, Large earlobe, ... |
ORPHA:1675 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Autoinflammatory Disease, Systemic, X-Linked |
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Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Lipodystrophy, Familial Partial, Type 7 |
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Type I diabetes mellitus, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Bloom Syndrome |
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Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ... |
ORPHA:125 |
Dyschondrosteosis-Nephritis Syndrome |
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Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia |
ORPHA:1765 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib... |
OMIM:616546 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Asplenia |
OMIM:244400 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Narcolepsy, Sensorineural hearing impairment, Optic atrophy |
ORPHA:314404 |
Niemann-Pick Disease, Type C2 |
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Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Abnormal repetitive mann... |
OMIM:607625 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Abnormal repetitive ma... |
ORPHA:261552 |
Narcolepsy 7 |
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Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
Radio-Renal Syndrome |
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Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal form of the vertebral bo... |
ORPHA:3015 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Cryptorchidism, Abnormal pelvis bone ossification, Preaxial hand polyda... |
ORPHA:93271 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc... |
OMIM:619534 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis, Osteomalacia |
ORPHA:405 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Rectal abscess, Neutropenia, Recurrent otitis media, Failure to thrive |
OMIM:601495 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms |
OMIM:610688 |
Nmda Receptor Encephalitis |
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Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, EEG wit... |
ORPHA:217253 |
Interstitial Cystitis |
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Dyspareunia, Abnormality of the menstrual cycle |
ORPHA:37202 |
Narcolepsy 1 |
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Narcolepsy |
OMIM:161400 |
Narcolepsy 3 |
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Narcolepsy |
OMIM:609039 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Malakoplakia |
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Orchitis, Abnormality of the menstrual cycle |
ORPHA:556 |
Cystic Fibrosis |
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Male infertility, Hepatosplenomegaly, Steatorrhea |
OMIM:219700 |
Noonan Syndrome 1 |
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Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... |
OMIM:163950 |