| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... |
ORPHA:314811 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Short stature, Dorsocervical fat pad, Osteoporosis, Delayed thel... |
OMIM:616033 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the... |
ORPHA:1879 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Short stature, Limb joint con... |
OMIM:612079 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Atypical scarring of skin,... |
ORPHA:2485 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Decreased te... |
OMIM:614880 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... |
ORPHA:314802 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism, Short stature |
ORPHA:631 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Short stature |
ORPHA:329249 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| 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 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... |
OMIM:618392 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... |
ORPHA:2204 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism... |
ORPHA:398079 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:300123 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Small for gestational age, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... |
ORPHA:276575 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, R... |
OMIM:262400 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Short toe, Hyperinsulinemia, Obesity, Type II diab... |
ORPHA:3085 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:2232 |
| Panhypopituitarism, X-Linked |
|
Pituitary dwarfism, Panhypopituitarism |
OMIM:312000 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Short clavicles, Short distal phala... |
OMIM:248370 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Growth delay, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Micrognathia, Coxa vara, Abnormal... |
ORPHA:1988 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc... |
ORPHA:739 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... |
ORPHA:2410 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Flexion contra... |
ORPHA:398069 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity, Short stature |
ORPHA:85274 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... |
ORPHA:785 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Hyperin... |
OMIM:619326 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature |
ORPHA:369873 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Septooptic Dysplasia |
|
Short stature, Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:182230 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Long foot, Adipose tissue loss, ... |
ORPHA:528 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase concentration, Sens... |
OMIM:610717 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Birth ... |
OMIM:300148 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... |
OMIM:614856 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia |
OMIM:613606 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79444 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Micrognathia, Multiple pren... |
OMIM:616897 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... |
OMIM:609325 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Anti-t... |
OMIM:274300 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... |
OMIM:612526 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... |
OMIM:616784 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
ORPHA:1261 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Sensorineural hearing impairment |
ORPHA:71289 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Autoimmunity, Precocious puberty, Pituitar... |
ORPHA:91354 |
| Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abdominal... |
ORPHA:3055 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Intrauterine growth retardation, Fa... |
ORPHA:261483 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79443 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Oliver-Mcfarlane Syndrome |
|
Severe short stature, Small for gestational age, Hypogonadotropic hypogonadism, Decreased respons... |
OMIM:275400 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohid... |
ORPHA:3157 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Small for gestational age, Congenital generalized lipodystrophy, Gener... |
OMIM:608154 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Adipose tissue loss, Hyperinsulinemia, Large ha... |
OMIM:246200 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... |
OMIM:619073 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab... |
ORPHA:363400 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Short stature, Progressive flexion contractures, Craniosynostosis, Cryptorchidis... |
ORPHA:93932 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive |
ORPHA:99852 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... |
OMIM:615849 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Incre... |
ORPHA:1227 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal, Hyperinsulinemia, Short stature |
ORPHA:66518 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... |
ORPHA:53 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab... |
ORPHA:281 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Acute myelomonocytic le... |
OMIM:159550 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... |
ORPHA:2298 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Inguinal hernia, Short femur, Short stature, Rhizomelia, Micromelia, Mi... |
OMIM:613848 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Osteo... |
OMIM:614727 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Micrognathia, Generalized osteosclerosis, ... |
ORPHA:763 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Head-banging, Abnormal ... |
OMIM:182290 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... |
OMIM:239000 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, Short stature |
OMIM:615993 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... |
ORPHA:163649 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Diabetes melli... |
OMIM:615381 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Anorexia, Megaloblastic anemia, Sensorineural heari... |
ORPHA:49827 |
| 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 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... |
OMIM:617306 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size |
OMIM:614962 |
| Werner Syndrome |
|
Increased bone mineral density, Short stature, Lipodystrophy, Lipoatrophy, Joint stiffness, Rocke... |
ORPHA:902 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Obesity, Azoospermia, Abnormality of the hypothala... |
ORPHA:2183 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Small for gestational age, Rhizomelia, Hypoglycemia, Sandal gap, Hypo... |
OMIM:607143 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Ovarian Dysgenesis 4 |
|
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... |
OMIM:616185 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Ab... |
ORPHA:1782 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Micrognathia |
ORPHA:2849 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... |
ORPHA:2905 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Reduced circulating prolactin concentration |
OMIM:223360 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hypoglycemia, Short stature, Osteoporosis, Growth delay, Delayed puberty, Failure to ... |
ORPHA:369 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Dis... |
OMIM:224300 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
| Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Genu v... |
OMIM:131300 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Short stature, Hypoglycemia, Lower limb asymmetry, Postnatal growth re... |
ORPHA:231140 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Micrognathia, Postnatal growth retardatio... |
ORPHA:73272 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Enamel hypoplasia |
OMIM:612463 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyopathy, Choreoathetosis, N... |
ORPHA:79312 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Radial club ha... |
ORPHA:3312 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, Failure to thrive, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Facial p... |
OMIM:611490 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Short stature, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Lipodystrophy, Insulin resistance, Flexion contracture, Osteoporosis, Hyperinsulinemi... |
OMIM:613327 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... |
OMIM:176270 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytop... |
OMIM:615085 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsu... |
ORPHA:79086 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Inguinal hernia, Short femur, Recurrent fractures, Metaphyseal s... |
OMIM:618188 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:94065 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Decreased response to growth hormone stimulation test, Craniosynostosis, Adrenal hypo... |
OMIM:614732 |
| Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Absent metacarpal... |
OMIM:610797 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Short stature, Micrognathia, Osteopoikilosis, Clinodactyly of the 5th finger, ... |
ORPHA:94063 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
| Mehmo Syndrome |
|
Growth delay, Cryptorchidism, Diabetes mellitus, Obesity |
ORPHA:85282 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
| Myasthenic Syndrome, Congenital, 22 |
|
Anti-acetylcholine receptor antibody positivity, Short stature, Decreased response to growth horm... |
OMIM:616224 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Short stature, Obesity, Delayed puberty |
OMIM:301900 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:245590 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Obesity |
OMIM:620270 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseu... |
OMIM:612462 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali... |
OMIM:249270 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Maturity-onset diabete... |
OMIM:616222 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... |
OMIM:300942 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity |
ORPHA:254525 |
| Boomerang Dysplasia |
|
Omphalocele, Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test... |
ORPHA:1263 |
| Pseudohypoparathyroidism, Type Ia |
|
Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid ... |
OMIM:103580 |
| Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyperglycinemia... |
OMIM:606054 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e... |
OMIM:617475 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98855 |
| Rhyns Syndrome |
|
Osteopenia, Short stature, Decreased response to growth hormone stimulation test, Pituitary hypot... |
OMIM:602152 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Rhyns Syndrome |
|
Osteopenia, Hypopituitarism |
ORPHA:140976 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia, Micrognathia... |
ORPHA:48431 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:615982 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st... |
OMIM:613457 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98853 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... |
OMIM:229050 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Short stature, Decreased response to growth hormone stimulation t... |
ORPHA:94089 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Kearns-Sayre Syndrome |
|
Anterior hypopituitarism |
ORPHA:480 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Card... |
ORPHA:27 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
| Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Alstrom Syndrome |
|
Pes planus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
OMIM:203800 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Short stature, Camptodactyly of finger |
ORPHA:2863 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Abnormality of the thyroid gland, Obesity, Decreased fertility,... |
ORPHA:2234 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... |
OMIM:598500 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptod... |
ORPHA:90652 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, D... |
ORPHA:2348 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu... |
ORPHA:79083 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98863 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
| Deeah Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Short stature, Decreased response to growth hormone stimulation test |
OMIM:615286 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
| Pituitary Gigantism |
|
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... |
ORPHA:99725 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hor... |
ORPHA:79445 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph... |
OMIM:608594 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Decreased bod... |
OMIM:618347 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Short stature |
ORPHA:3459 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Short stature |
ORPHA:177910 |
| Immunodeficiency 54 |
|
Short stature, Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Laron Syndrome |
|
Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Osteoarthr... |
ORPHA:633 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... |
OMIM:277170 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Severe short stature, Short stature, Small fo... |
OMIM:127000 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Short stature, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... |
OMIM:617591 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
| Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Disproportionate short-limb short stature, Flexion contracture, Small pituitary gland |
OMIM:619479 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Sensorineural hearing impairment, Radioulnar synostosis, Joint contracture of the 5... |
OMIM:194350 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal obesity, Ol... |
OMIM:219090 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Cryptorchidism, Obesity, Advanced ossification of carpal bones, Congenital hyp... |
OMIM:614613 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay... |
OMIM:620099 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Short stature, Obesity |
OMIM:616756 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnorm... |
ORPHA:158061 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Micrognathia, High iliac wing, Osteopetrosi... |
ORPHA:2780 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Osteoporosis, Obesity, Hypogonadism, Flex... |
ORPHA:3409 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, EEG abnormality, Se... |
ORPHA:819 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... |
OMIM:277460 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hy... |
ORPHA:71212 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion cont... |
OMIM:151050 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Overweight, Cranial hyperos... |
ORPHA:457240 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo... |
ORPHA:77296 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Cardiomegaly, Anemia, Thrombocytopenia, Hearing impairment |
ORPHA:858 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... |
OMIM:124900 |
| Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency, Short stature |
ORPHA:869 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Obesity |
ORPHA:276630 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating s... |
ORPHA:470 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... |
ORPHA:79085 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee ... |
OMIM:618395 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ... |
ORPHA:98850 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating luteinizing hormon... |
OMIM:609441 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:289916 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Ly... |
OMIM:617575 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Autoimmunity, Hypohidrosis, Growth delay, Hypopituitarism, Failure to thrive |
ORPHA:98813 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Microtia, Attention deficit hyperactivity disorder... |
OMIM:620184 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Short stature, Premature ovarian insufficiency, Increased circulating g... |
ORPHA:243 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Short s... |
ORPHA:769 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane... |
OMIM:614857 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars... |
ORPHA:35107 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Short stature, Precocious... |
ORPHA:672 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Optic atrophy, Dysmetria, Card... |
OMIM:617710 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Cryptorchidis... |
ORPHA:10 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Short femoral n... |
ORPHA:2848 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve m... |
ORPHA:77293 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
| Pycnodysostosis |
|
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... |
OMIM:265800 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Cornelia De Lange Syndrome 5 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Truncal obesity, Hypogonadism, Decre... |
OMIM:300882 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Postnatal growth retardation, Obesity, Lipoma |
ORPHA:480907 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis, Neutropenia, Congenita... |
OMIM:616738 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Failure to thrive, Hypergonadotropic hypogonadism, Decreased respon... |
OMIM:606407 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... |
ORPHA:52368 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:177907 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia |
ORPHA:1237 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Leukopenia, Hyperglycinemia... |
OMIM:251000 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Intrauterine growth retardation, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:619737 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Abnormal circulating glutamine concentrati... |
ORPHA:101028 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Pericardial effusion, Hypersp... |
ORPHA:77259 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... |
ORPHA:2323 |
| Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Dysphagia, Abnormal heart ... |
ORPHA:206572 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... |
ORPHA:800 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Hearing impairment, Microcytic anemia, ... |
ORPHA:168569 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decre... |
OMIM:614837 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
| 4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Premature ovarian in... |
ORPHA:199299 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
| Schaaf-Yang Syndrome |
|
Short stature, Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogo... |
OMIM:615547 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypoglycemia, Flexion contracture, Growth delay, Polydactyly, Failure... |
ORPHA:17 |
| Microphthalmia, Syndromic 3 |
|
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:206900 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Short stature, Disproportionate short stature, Advanced ossific... |
OMIM:618363 |
| Wagr Syndrome |
|
Cryptorchidism, Short stature, Obesity |
ORPHA:893 |
| Chung-Jansen Syndrome |
|
Cryptorchidism, Obesity |
OMIM:617991 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hypoglycemia, Hip dislocation, Limb undergrowth, Intrauterine growth r... |
OMIM:618005 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Long foot, Postnatal growth retardati... |
ORPHA:508 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Obesity |
ORPHA:1193 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Sensorineural hearing impa... |
OMIM:222300 |
| Felty Syndrome |
|
Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Cellulitis, Osteolysi... |
ORPHA:47612 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Absent pubertal growth spurt, Short stature, Obesity |
ORPHA:464282 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Trisomy 5P |
|
Short stature, Obesity |
ORPHA:1742 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Micrognathia, Postna... |
OMIM:616145 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormality of neutrophils, Thrombocytopenia, Arthritis, Cellulitis, Abnormal ... |
ORPHA:229717 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Short stature, Large for gestational age, Rickets, Glycosuria |
OMIM:616026 |
| Sengers Syndrome |
|
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Hypsarrhythmia, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
| African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Narcolepsy, Abnormality ... |
ORPHA:3385 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... |
ORPHA:507 |
| Juberg-Hayward Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:216100 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia, Hearing impairment |
OMIM:616435 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Short stature, Hypothalamic hamartoma |
OMIM:241800 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... |
ORPHA:280679 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... |
ORPHA:35687 |
| Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... |
ORPHA:275555 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:616050 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Failure to ... |
OMIM:619151 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Stuve-Wiedemann Syndrome 2 |
|
Dysphagia, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Male infertility, Hypergonadotropic ... |
ORPHA:91 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Sensorineural h... |
ORPHA:540 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... |
ORPHA:167 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditi... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditi... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditi... |
ORPHA:881 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Babesiosis |
|
Hemolytic anemia, Anorexia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Joint hypermobility, Thromb... |
OMIM:617052 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Splenomegaly, Sensorineural hearing impairment, Anemia, Type I diabete... |
ORPHA:290 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity, Craniosynostosis |
ORPHA:171839 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Short stat... |
ORPHA:464306 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... |
ORPHA:158048 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... |
OMIM:193700 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Type II diabetes mellitus, Obesity |
ORPHA:3191 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impair... |
OMIM:617253 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Sensorineural hearing impairment, EEG abnormality, Failure to thrive, Thromboc... |
OMIM:616577 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:609757 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anem... |
OMIM:277380 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Osteoporosis, L... |
OMIM:307030 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty, Cryptorchidism, Postna... |
ORPHA:813 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism |
ORPHA:36913 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Short stature, Obesity |
OMIM:618124 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Wilson Disease |
|
Aggressive behavior, Splenomegaly, Hypersexuality, Increased body weight, Weight loss, Anemia, Ar... |
ORPHA:905 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... |
ORPHA:69076 |
| Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Obesity, Cardiomyopathy, Abnormal... |
ORPHA:98907 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
| Summitt Syndrome |
|
Camptodactyly of finger, Tall stature, Obesity, Craniosynostosis |
ORPHA:3210 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Joint stiffness, Cardiomegaly, Splenomegaly, Aggressive behavior, Asymmetric septa... |
OMIM:252920 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti... |
ORPHA:228360 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elev... |
OMIM:101800 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Short stature, Decreased response to growth hormone stimulation test, Lipodystrophy, Hypothyroidi... |
OMIM:618922 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Osteopenia, Severe short stature, Decreased response to growth hormone stimulation test, Bilatera... |
OMIM:618336 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Thyrotoxicosis with diffuse goiter, Abnormal p... |
ORPHA:64744 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:363741 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... |
OMIM:612561 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Small for gestational age, Hypoglycemia, Micrognathia, Postnatal gro... |
ORPHA:397590 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Growth delay, Intrauterine growth retardation, Short stature, Osteopetrosis |
OMIM:618541 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Short stature, Micrognathia, Cranial hyperostosis, Flared metaphy... |
OMIM:259720 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Hyperammonemia, Weight loss, Lethargy, Thrombocytopenia |
ORPHA:79242 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| 13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Intrauter... |
ORPHA:412035 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Short stature, Obesity |
ORPHA:3077 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Alg8-Cdg |
|
Hyponatremia, Ataxia, Small for gestational age, Abnormality of subcutaneous fat tissue, Optic at... |
ORPHA:79325 |
| X-Linked Agammaglobulinemia |
|
Osteomyelitis, Cellulitis, Sensorineural hearing impairment, Weight loss, Anemia, Arthritis, Hypo... |
ORPHA:47 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus, Lipodystrophy |
OMIM:615980 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Short stature, Obesity |
OMIM:618822 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity, Short stature |
OMIM:600430 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Short stature, Severe short stature, Lipo... |
OMIM:270450 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypogonadism, Obesity |
OMIM:616629 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Abnormal glucos... |
ORPHA:391673 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t... |
OMIM:606721 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Postnatal growth retardation, Cryptorchidism, Obesity, Elevate... |
ORPHA:439822 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Obesity |
OMIM:615633 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Increased serum testosterone level, Abnormality of th... |
ORPHA:247768 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Ventricular septal defect, Joint hypermobility, Failure t... |
OMIM:619418 |
| Silver-Russell Syndrome 1 |
|
Testicular seminoma, Small for gestational age, Decreased response to growth hormone stimulation ... |
OMIM:180860 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:232400 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen... |
OMIM:617302 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... |
ORPHA:79259 |
| Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia |
OMIM:618624 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
| Adiposis Dolorosa |
|
Xerostomia, Autoimmunity, Hypothyroidism, Obesity |
ORPHA:36397 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Multifocal epileptifo... |
ORPHA:369837 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Short stature, Obesity |
OMIM:614202 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
| Desmosterolosis |
|
Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equino... |
OMIM:602398 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... |
ORPHA:96179 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short stature, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Decreased testic... |
OMIM:300354 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Ataxia, Thrombocytopenia |
OMIM:274240 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parath... |
OMIM:617994 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Short stature, Camptodactyly of finger |
ORPHA:2928 |
| Luscan-Lumish Syndrome |
|
Short stature, Irregular menstruation, Obesity, Advanced ossification of carpal bones, Polycystic... |
OMIM:616831 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular septal defect, ... |
OMIM:608104 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... |
ORPHA:824 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure t... |
ORPHA:2089 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive |
ORPHA:71 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty... |
OMIM:301078 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Diabete... |
ORPHA:536532 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia... |
OMIM:259775 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:216550 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obesity |
OMIM:300957 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Anti-thyroid peroxidase antibody positivit... |
OMIM:615577 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Short stature |
ORPHA:85280 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Short stature,... |
OMIM:264090 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... |
ORPHA:363528 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| 19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Precocious puberty, Cryptorchidism, Obesity, Arthrogryposis multiplex congenita... |
ORPHA:254346 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Short stature, Adrenal hypoplasia, ... |
ORPHA:95496 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorchidi... |
ORPHA:284180 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Panc... |
ORPHA:77261 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
| Carpenter Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity, Craniosynostosis |
ORPHA:65759 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Intrauterine growth retardation, Panhypopituitarism, Decreased testicular size, Short stature |
OMIM:300953 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Hypopituitarism, Failure to thrive, Delayed puberty |
OMIM:600462 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocyto... |
OMIM:260400 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinoda... |
ORPHA:508488 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Foot joint contracture, Scarring, Macrotia, Optic at... |
ORPHA:90321 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Hyperactivity, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Umb... |
OMIM:252900 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
| Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... |
ORPHA:811 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
| Tatton-Brown-Rahman Syndrome |
|
Proportionate short stature, Cryptorchidism, Obesity, Proportionate tall stature, Umbilical herni... |
ORPHA:404443 |
| Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity |
OMIM:616260 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Thrombocytopenia |
OMIM:610333 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Craniosynostosis, ... |
OMIM:301056 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Joubert Syndrome 37 |
|
Cryptorchidism, Short stature, Decreased testicular size, Obesity |
OMIM:619185 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Left vent... |
ORPHA:31150 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Small for gestational age, Hearing impairment, Conjugated hyperbilirub... |
OMIM:208085 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Short stature, Obesity |
ORPHA:1035 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Azoospermia, Hypogon... |
ORPHA:96263 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... |
ORPHA:457351 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Arthritis, Leukopenia, Thrombocytopenia |
OMIM:152700 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:256040 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Gout, ... |
ORPHA:412 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy... |
ORPHA:99901 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss |
ORPHA:69077 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Momo Syndrome |
|
Short stature, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, ... |
ORPHA:2563 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Obesity, Primary amenorrhea, Bilateral breast hypoplasia, Severe postnatal growth ... |
ORPHA:319675 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... |
ORPHA:3041 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Short stature, Decreased response to growth hormone stimulation test, Cra... |
OMIM:601853 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Joint contracture, Failure... |
OMIM:616881 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Joint stif... |
OMIM:619127 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Increased bone... |
ORPHA:355 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Bone Marrow Failure Syndrome 4 |
|
Low-set ears, Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Hypogo... |
ORPHA:85293 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
| Carpenter Syndrome 1 |
|
Omphalocele, Short stature, Sagittal craniosynostosis, Precocious puberty, Cryptorchidism, Spina ... |
OMIM:201000 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co... |
OMIM:609069 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly of toe, Decreased tes... |
ORPHA:127 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Short stature, Abnormal dental enamel morphology, Craniosynostosis, Obesity, Delayed ... |
ORPHA:251004 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... |
ORPHA:75389 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, Decreased circulating andr... |
ORPHA:90796 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C... |
ORPHA:2839 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Letha... |
OMIM:251110 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Thrombocytopenia, Conductive ... |
OMIM:611209 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Obesity, Tall stature |
OMIM:618089 |
| Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
| Microtriplication 11Q24.1 |
|
Short stature, Obesity |
ORPHA:289522 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Fai... |
OMIM:613989 |
| Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Short stature, Decreased response to growth hormone stimulation test |
OMIM:147250 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly, Enamel... |
OMIM:619980 |
| Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion... |
ORPHA:85212 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
| Bardet-Biedl Syndrome |
|
Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Splenomegal... |
OMIM:606003 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Talipes equinovarus, Broad distal ... |
OMIM:300990 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreas... |
OMIM:617053 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| 16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Failure to thrive, Decreased response ... |
ORPHA:485405 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Short stature, Diaphyseal sclerosis |
OMIM:259730 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Bruxism, Anemia, Self-injurious be... |
ORPHA:261323 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia, Multiple lipomas, Reduced bone mineral density |
ORPHA:1414 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Short stature, Decreased response to growth hormone stimulation test... |
ORPHA:1855 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Muscular ventricular septal defect, Sensorineural hearin... |
ORPHA:79324 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Anorexia, Throm... |
OMIM:557000 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
| Mpdu1-Cdg |
|
Wide anterior fontanel, Decreased serum insulin-like growth factor 1, Decreased response to growt... |
ORPHA:79323 |
| Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Decreased response to growth hormone stimulation test |
OMIM:617784 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Dysphagia, D... |
OMIM:252930 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Obesity |
OMIM:618821 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Leukopenia, Thrombocytopenia, Hearing impair... |
OMIM:613990 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Dilated cardiomy... |
ORPHA:398124 |
| Desbuquois Dysplasia 1 |
|
Severe short stature, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsal ossifi... |
OMIM:251450 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Dysmetria, Dysphagia, Cardiomyopathy, Athetos... |
ORPHA:572798 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sple... |
OMIM:614576 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Methemoglobinemia |
ORPHA:621 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T ... |
OMIM:242900 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le... |
ORPHA:3226 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Atelis Syndrome 2 |
|
Pes planus, Micrognathia, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short stature, Obesity, Craniosynostosis |
OMIM:619056 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodi... |
ORPHA:525731 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Small... |
OMIM:618775 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Dysphagia |
OMIM:615750 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Cranial hyperostosi... |
ORPHA:330015 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Obesity, EEG with ge... |
ORPHA:163681 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Decreased response to growth hormone stimulation test, Hyperhidrosis |
OMIM:615280 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Short stature, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Gr... |
OMIM:619234 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, A... |
ORPHA:227990 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno... |
ORPHA:210136 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, A... |
ORPHA:227982 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of ... |
ORPHA:98791 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Flexion contracture, Inability to walk, Optic atrophy, Leukopenia... |
OMIM:617303 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Cor triatriatum, Inguinal hernia, Intermittent thrombocytopenia, Secundum atri... |
OMIM:612541 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Smith-Kingsmore Syndrome |
|
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Se... |
ORPHA:760 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Decreased body weight, Intr... |
OMIM:609053 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Obesity |
OMIM:617296 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Microtia, Low-set ea... |
OMIM:608013 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentr... |
ORPHA:381 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Irregular menstruation, Obesity |
OMIM:615986 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Down Syndrome |
|
Decreased fertility, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Adrenal h... |
OMIM:220210 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... |
OMIM:133540 |
| Laurence-Moon Syndrome |
|
Short stature, Obesity |
OMIM:245800 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis... |
ORPHA:1772 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Small for gestational age, Pure red cell aplas... |
ORPHA:124 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Short stature, Decreased response to growth hormone stimulation test, ... |
OMIM:614114 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Weight loss, Anemia, Leukopenia, Addictive alcohol use, Neu... |
ORPHA:520 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Letha... |
OMIM:251100 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Decreased nerve conduction velocity, Thrombocy... |
OMIM:214500 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Aplasia of the right hemidiaphragm, Cryptorchidism,... |
OMIM:619841 |
| Acrootoocular Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:2980 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Autoimmunity, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| 6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... |
ORPHA:251071 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment, Optic atroph... |
ORPHA:79330 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
| Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Streak ovary, Obesity |
OMIM:194072 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Cryptorchidism, Obesity, Growth delay, Failure to thrive, Abnorm... |
ORPHA:96147 |
| Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Snakebite Envenomation |
|
Hypopituitarism |
ORPHA:449285 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... |
ORPHA:96149 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... |
OMIM:614520 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Megaloblastic anemia, Dilated ca... |
ORPHA:79282 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Sensorineural... |
OMIM:605432 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Adrena... |
ORPHA:85138 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:444490 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... |
OMIM:216400 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Flexion contracture, Choreoathetosis, Leukopenia, Neutropenia, Thr... |
OMIM:616271 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity |
OMIM:615994 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Vexas Syndrome |
|
Macrocytic anemia, Chondritis of pinna, Elevated circulating C-reactive protein concentration, Se... |
OMIM:301054 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Thrombocytopenia, Osteoporosis, Optic atrophy, Increased susceptibility to fr... |
OMIM:612199 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
| Somatomammotropinoma |
|
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... |
ORPHA:314769 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Obesity, Umbilical hernia |
ORPHA:1001 |
| Ulnar-Mammary Syndrome |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Obesity, Decreased fertility, Breast apla... |
ORPHA:3138 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Short stature, T... |
OMIM:134780 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Myocarditis, Leukocytosis, Ab... |
ORPHA:810 |
| Dengue Fever |
|
Hypoproteinemia, Leukopenia, Lethargy, Thrombocytopenia |
ORPHA:99828 |
| Shox-Related Short Stature |
|
Short stature, Obesity |
ORPHA:314795 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Truncal obesity, Disproportion... |
OMIM:616541 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Aortic valve stenosis, Th... |
OMIM:230800 |
| Microform Holoprosencephaly |
|
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... |
ORPHA:280200 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Posteriorly rotated ears, Increased mean platelet volume, Sensorineural ... |
OMIM:616737 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Dilated third ventricle |
ORPHA:314404 |
| Zika Virus Disease |
|
Arthritis, Transient hearing impairment, Abnormal optic disc morphology, Thrombocytopenia |
ORPHA:448237 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Postnatal growth retardation, Wide distal femoral metaphysis, Po... |
OMIM:269150 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Large for gestational age... |
OMIM:610733 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Sensorineural hearing impairment, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O... |
OMIM:222700 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Obesity |
OMIM:615630 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:600901 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabet... |
OMIM:619269 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Low-set ears, Umbilical hernia, Failure to thrive, Patent foramen ovale, Thrombocyt... |
OMIM:251290 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Atrial septal ... |
OMIM:619769 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:604121 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Decreased b... |
ORPHA:314621 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly... |
ORPHA:508542 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport... |
ORPHA:1830 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Overweight, Obesity |
ORPHA:2822 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, EEG abnormality, Elevated hepatic iron concentration, Thrombocytopenia, Hearing impairment |
OMIM:614946 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Flexion con... |
OMIM:227645 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Trisomy 10P |
|
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Immunodeficiency 22 |
|
Pericarditis, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure ... |
OMIM:615758 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Cholelithiasis, Pancreatitis |
ORPHA:69663 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Thrombocytopenia, Inability to walk, Flexion contracture, Optic atrophy, Abnorma... |
ORPHA:505248 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... |
OMIM:606593 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Short stature, Chronic pancreatitis, Obesity, Pineal cyst |
ORPHA:98908 |
| Pearson Syndrome |
|
Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Cardiomyopathy, Hypokalemia, Hypomagnesemia, ... |
ORPHA:699 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:227650 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... |
OMIM:615866 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Increa... |
ORPHA:261250 |
| Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... |
ORPHA:125 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Macrotia, Hyperhomocystinemia, C... |
OMIM:277400 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Short stature, Osteoporosis, Gout, Growth delay, Fasting hypoglycemia, Delayed puberty |
OMIM:232200 |
| Tick-Borne Encephalitis |
|
Stiff neck, Facial palsy, Elevated circulating C-reactive protein concentration, Anorexia, Leukoc... |
ORPHA:297 |
| Farber Disease |
|
Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Failure to th... |
ORPHA:333 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myocarditis, Elevat... |
ORPHA:36234 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Leukopenia,... |
ORPHA:1304 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Inability to walk, Cardiomyopathy, Self-mutilation, Thrombocytopenia |
OMIM:225750 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Supernumerary nipple |
ORPHA:3224 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic... |
ORPHA:90154 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Short stature, Cryptorchidism, Obesity, Delayed puberty, Intrauteri... |
ORPHA:193 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
| Williams Syndrome |
|
Osteopenia, Micrognathia, Clinodactyly of the 5th finger, Hypothyroidism, Joint laxity, Increased... |
ORPHA:904 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... |
ORPHA:529962 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Hyperchol... |
ORPHA:363618 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, He... |
ORPHA:464329 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Truncal obesity... |
OMIM:210720 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Tapered finger |
OMIM:618367 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... |
ORPHA:90153 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia |
OMIM:224230 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Intrauterin... |
OMIM:603467 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Lethargy, Thrombocytopenia |
OMIM:617397 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... |
ORPHA:30391 |
| Frontorhiny |
|
Pericallosal lipoma, Hypopituitarism, Diabetes insipidus, Camptodactyly of finger |
ORPHA:391474 |
| Kleefstra Syndrome |
|
Short stature, Supernumerary nipple, Cryptorchidism, Obesity, Hernia |
ORPHA:261494 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microa... |
ORPHA:464343 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Ataxia |
ORPHA:79476 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Leukopenia, EEG abnormality, Failure to... |
ORPHA:974 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... |
OMIM:209900 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Abnormality of the pineal gland, Obesity |
ORPHA:369950 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia |
ORPHA:83601 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Low-set ... |
OMIM:618183 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, L... |
ORPHA:423479 |
| Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... |
OMIM:601808 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Meier-Gorlin Syndrome 6 |
|
Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation... |
OMIM:616835 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, EEG abnormality, Attention deficit hyperactivity disorder, De... |
OMIM:619005 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Cranial ne... |
ORPHA:2785 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Protruding ear, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponatremia... |
ORPHA:534 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myo... |
ORPHA:781 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:170100 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Loss of ambulation, Decreased skull ossification... |
ORPHA:666 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Achondroplasia |
|
Wide anterior fontanel, Disproportionate short stature, Rhizomelia, Obesity |
ORPHA:15 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia |
OMIM:254900 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Obesity, Protruding ear, Anemia, Low-set ear... |
OMIM:620072 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v... |
ORPHA:199276 |
| Kleefstra Syndrome 1 |
|
Cryptorchidism, Obesity |
OMIM:610253 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Lo... |
OMIM:227646 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Arthritis, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thro... |
ORPHA:93552 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Anemia, Dysphagia, Thrombocytopenia |
ORPHA:169105 |
| Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females, Obesity |
ORPHA:72 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Gr... |
ORPHA:667 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
| White-Sutton Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Obesity, Intrauterine growth retardation, Failure... |
OMIM:616364 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Sensorineural hearing impairment, Fl... |
ORPHA:847 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Decreased response to growth hormone stimulation test, Short stature, Delayed puberty |
OMIM:307200 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
| Wiedemann-Steiner Syndrome |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Postnatal growt... |
ORPHA:319182 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pi... |
OMIM:615873 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil... |
OMIM:300972 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Obesity |
OMIM:618443 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Posteriorly rotated ears, Abnormal repetitive mannerisms, Sensorineura... |
OMIM:301040 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:99826 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia |
OMIM:277480 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight, Intrauterine growth retardation, Enamel hypoplasia, A... |
OMIM:619229 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Hypogonadotropic hypogonadism,... |
ORPHA:79318 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Recon Progeroid Syndrome |
|
Joint laxity, Attached earlobe, Anemia, Microtia, Thrombocytopenia |
OMIM:620370 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Fused cervical vertebrae, Ab... |
ORPHA:3320 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Short stature, Anterior pituitary hypoplasia, Bile duct proliferatio... |
OMIM:619534 |
| Ivic Syndrome |
|
Hearing impairment, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synos... |
ORPHA:2307 |
| Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Hypothyroidism, Growth delay, Failure to thrive, Slender... |
ORPHA:1600 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Neutr... |
OMIM:232220 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Posteriorly rotated ... |
OMIM:614294 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Dilated cardiomyopathy... |
ORPHA:3260 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Craniosynostosis |
ORPHA:261197 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Short stature, Aplasia of the thymus, Decreased response to growth hormone st... |
OMIM:618223 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Desbuquois Dysplasia 2 |
|
Severe short stature, Postnatal growth retardation, Advanced ossification of carpal bones, Trunca... |
OMIM:615777 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Atrial septal defect, Smal... |
ORPHA:567 |
| Dyskeratosis Congenita |
|
Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Hearing impairment, Thrombocy... |
ORPHA:1775 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Absence of subcut... |
OMIM:620005 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of neutrophils, Craniosynostosis, Thrombocytopenia... |
ORPHA:235 |
| Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Splenomegaly, L... |
ORPHA:90051 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Inguinal hernia, Short stature, Decreased response to growth hormone stimulation test, Craniosyno... |
OMIM:213980 |
| Fabry Disease |
|
Abnormal endocardium morphology, Anorexia, Hyperlipidemia, Sensorineural hearing impairment, Opti... |
ORPHA:324 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Posteriorly rotated ears, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Low-set ears, Steatorrhea, Failure to thrive, Thrombocytopenia |
OMIM:617941 |
| Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal dental enamel morp... |
ORPHA:1896 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Hip contracture, Short stature, Obesity |
OMIM:618493 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:602782 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
| Wagro Syndrome |
|
Decreased testicular size, Obesity |
OMIM:612469 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity, Truncal ataxi... |
OMIM:301072 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Chops Syndrome |
|
Cryptorchidism, Short stature, Obesity |
OMIM:616368 |
| Lujo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Leu... |
ORPHA:319213 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Low-set ears, Overfolded helix, Thrombocytopenia |
OMIM:300514 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Short stature, Craniosynostosis, Congenital diaphragmatic hernia, Cryptorchidism... |
ORPHA:96121 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Decreased circulating renin level, Arachnod... |
OMIM:201750 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal incisura mo... |
OMIM:122470 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Obesity, Pancreatitis |
OMIM:619471 |
| Holoprosencephaly |
|
Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Congenital diaphragmatic hernia, Cr... |
ORPHA:2162 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Inguinal hernia, Ventricular septal defect, Microcytic anemia, Thrombocytopeni... |
OMIM:619525 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity, Disproportionate short stature, Intrauterine growth retardation |
ORPHA:2637 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Cryptorchidism, Hypopituitarism, Lipoma |
OMIM:603671 |
| Monosomy 13Q34 |
|
Growth delay, Metrorrhagia, Obesity |
ORPHA:96168 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec... |
ORPHA:2388 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Cryptorchidism, Obesity, Hypogonadism |
OMIM:614231 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Osteoporo... |
ORPHA:488632 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Growth delay, Weight loss, Gly... |
ORPHA:3337 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:308230 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Red... |
ORPHA:84 |
| White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Obesity |
ORPHA:468678 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Large f... |
ORPHA:116 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Pancytopenia, Broad-based gait, Cachexia, Abnormality of... |
ORPHA:2072 |
| Toxic Epidermal Necrolysis |
|
Dysphagia, Weight loss, Anemia, Neutropenia, Abnormal myocardium morphology, Polydipsia, Thromboc... |
ORPHA:537 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Protruding... |
OMIM:300855 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Obesity |
ORPHA:444077 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:220386 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
| Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
| Blue Rubber Bleb Nevus |
|
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Macrotia, Low-set ears, Atria... |
OMIM:118450 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit... |
ORPHA:228308 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Hartsfield Syndrome |
|
Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Growth delay, Diabetes insipidus |
OMIM:615465 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Lathosterolosis |
|
Anisopoikilocytosis, Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Hearing i... |
ORPHA:46059 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Posteriorly rotated ears, Ane... |
ORPHA:163979 |
| Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Dysphagia, Abnormal myocardium morphol... |
ORPHA:36426 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test |
OMIM:617260 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity |
ORPHA:26793 |
| Kabuki Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchidism, Obesity, Fail... |
ORPHA:2322 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune th... |
ORPHA:51 |
| Hardikar Syndrome |
|
Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary venous return... |
OMIM:301068 |
| Angelman Syndrome |
|
Obesity |
OMIM:105830 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis |
ORPHA:251038 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Pericardial effusion, Thrombocytopenia, Splenomegaly, Increased c... |
OMIM:615846 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Flexion contr... |
ORPHA:487796 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
| Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone l... |
OMIM:188400 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Inguinal hernia, Obesity, Supernumerary nipple |
OMIM:618653 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Umbilical hernia, Obesity |
OMIM:301066 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Myocarditis, Thrombocyto... |
ORPHA:50918 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Flexion contracture, Optic atrophy, Low-set ears, Atrial septal defect... |
OMIM:147791 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Short stature |
OMIM:617547 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... |
ORPHA:268261 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Obesity |
OMIM:616078 |
| Charge Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Cryptorchidism, Abnor... |
ORPHA:138 |
| Niemann-Pick Disease Type C |
|
Ataxia, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly... |
ORPHA:646 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidem... |
ORPHA:565612 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Attention deficit hypera... |
ORPHA:647 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Small for gestational age, Unilateral cryptorchidism, Decreased response to grow... |
OMIM:613406 |
| Xylt1-Cdg |
|
Growth delay, Truncal obesity, Short stature |
ORPHA:370930 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Osteoporosis, Optic atrophy, Anemia, Leukopenia, Th... |
OMIM:305000 |
| White-Kernohan Syndrome |
|
Hypothyroidism, Obesity |
OMIM:619426 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Hyperkalemia, Hypoc... |
ORPHA:544482 |
| Myhre Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Obesity, Birth length less than 3rd per... |
OMIM:139210 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cranio... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cranio... |
ORPHA:363958 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short stature, Pseudohypoparathyroidism, Obesity, Intrauterine growth retardation, Failure to thrive |
OMIM:617157 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Hyperactivity, T lymphocytopenia, B lymphocytopenia, Macrotia, Throm... |
OMIM:251260 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, External ear malformation, Knee flexion contr... |
ORPHA:3103 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi... |
ORPHA:506358 |
| Alström Syndrome |
|
Pes planus, Precocious puberty in females, Decreased response to growth hormone stimulation test,... |
ORPHA:64 |
| Generalized Pustular Psoriasis |
|
Overweight, Obesity |
ORPHA:247353 |
| Peters Plus Syndrome |
|
Inguinal hernia, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congeni... |
ORPHA:709 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Short stature, Obesity |
OMIM:614947 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Ventricular septal defect, Aplasia/Hypoplasia... |
ORPHA:2308 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentra... |
ORPHA:439232 |
| Leukocyte Adhesion Deficiency |
|
Osteomyelitis, Short stature, Growth delay, Hyperinsulinemic hypoglycemia, Intrauterine growth re... |
ORPHA:2968 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepat... |
OMIM:274000 |
| Adnp Syndrome |
|
Inguinal hernia, Short stature, Cryptorchidism, Truncal obesity, Umbilical hernia |
ORPHA:404448 |
| Igg4-Related Ophthalmic Disease |
|
Orchitis, Antinuclear antibody positivity, Abnormality of the anterior pituitary, Enlarged lacrim... |
ORPHA:449563 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Bilateral sensorineural hearing impairment, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Rubinstein-Taybi Syndrome 1 |
|
Small for gestational age, Short stature, Premature thelarche, Bilateral cryptorchidism, Cryptorc... |
OMIM:180849 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| 1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Annular pancreas, ... |
ORPHA:1606 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Disproportionate short-limb short stature, Obesity |
OMIM:250420 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Overweight, Obesity, Decreased body weight, Intrauterine growth retardation, Failure to thrive, D... |
OMIM:619475 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Intrauterine grow... |
OMIM:619321 |
| Microphthalmia, Syndromic 6 |
|
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Lambdoidal craniosyno... |
OMIM:607932 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia, Anorexia |
ORPHA:319251 |
| Williams-Beuren Syndrome |
|
Osteopenia, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Short stature, Flex... |
OMIM:194050 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee f... |
OMIM:614976 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Hypercalcemia, Facial palsy, Scarring, Thrombocytopenia, Increase... |
ORPHA:797 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Truncal obesity, Obesity |
ORPHA:466950 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Antinuclear antibody positivity, Abnormality of the anterior pituitar... |
ORPHA:449395 |
| Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Bilateral cryp... |
OMIM:259050 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Anore... |
ORPHA:99827 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Omphalocele, Panhypopituitarism |
OMIM:610828 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Lupus anticoagulant, Antiphospholipid antibody positivity, Autoimmunity, Obesity |
ORPHA:70591 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Obesity, Corneal scarring, Hydrocele... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Obesity, Corneal scarring, Hydrocele... |
ORPHA:353277 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Cryptorchidism, Wide anterior fontanel, Obesity, Congenital hypothyroidi... |
OMIM:607872 |
| Alport Syndrome 1, X-Linked |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:301050 |
| Acute Liver Failure |
|
Ataxia, Hypoglycemia, Hyperammonemia, Agitation, Thrombocytopenia |
ORPHA:90062 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Short stature, Cryptorchidism, Obesity, Growth delay, Keloids, Failure to thrive |
ORPHA:353281 |
| Cornelia De Lange Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Primary amenorrhea, Truncal obesi... |
ORPHA:199 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia |
OMIM:232240 |
| Caroli Syndrome |
|
Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm... |
ORPHA:480520 |
| Charge Syndrome |
|
Hypoparathyroidism, Omphalocele, Hypogonadotropic hypogonadism, Decreased response to growth horm... |
OMIM:214800 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Abnormality of the peripheral nervous system, Arthritis, Leukopenia, Normochro... |
ORPHA:289390 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... |
OMIM:129900 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa... |
OMIM:163950 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Obesity, Hypohidrosis |
ORPHA:48652 |
| Systemic Lupus Erythematosus |
|
Arthritis, Thrombocytopenia, Hemolytic anemia, Leukopenia |
ORPHA:536 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Short stature, Cryptorchidism, Obesity, Hypogonadism, Decreased testicular size |
OMIM:309580 |
| Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... |
ORPHA:567983 |
| Leptospirosis |
|
Papilledema, Pericarditis, Anorexia, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Woodhouse-Sakati Syndrome |
|
Diabetes mellitus, Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Choreoatheto... |
OMIM:241080 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:75857 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test |
OMIM:180500 |
| Pallister-Killian Syndrome |
|
Omphalocele, Anhidrosis, Inguinal hernia, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic ... |
OMIM:601803 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Thrombocytopenia, Weight loss |
ORPHA:79078 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncal obesity, Failure to thrive, Camptodactyly |
OMIM:612474 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ... |
ORPHA:391665 |
