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Gene: Gulo MGI:1353434

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Gene Summary

Name:
gulonolactone (L-) oxidase
Synonyms:
sfx,  L-gulono-gamma-lactone oxidase

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Guloem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Guloem1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Guloem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating HDL cholesterol level Guloem1(IMPC)Ccpcz HOM   Early adult 1.84×10-05
abnormal optic disk morphology Guloem1(IMPC)Ccpcz HOM Early adult 8.88×10-05
decreased lean body mass Guloem1(IMPC)Ccpcz HOM Early adult 1.81×10-06
enlarged heart Guloem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating cholesterol level Guloem1(IMPC)Ccpcz HOM   Early adult 6.81×10-05
abnormal heart morphology Guloem1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Guloem1(IMPC)Ccpcz HOM Early adult 7.35×10-05
abnormal eye morphology Guloem1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Human diseases caused by Gulo mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gulo by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Bone ... ORPHA:93160
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Splenic ruptu... ORPHA:98878
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Delayed skeletal maturation, Jaundice, Cholestasis, Re... ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia, Premature coronary artery ath... OMIM:608320
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... ORPHA:331
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Osteoma... ORPHA:157215
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... ORPHA:35909
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral ... OMIM:241530
Moderate Hemophilia A
Arthropathy, Abnormal bleeding, Epidural hemorrhage, Hip contracture, Gastrointestinal hemorrhage... ORPHA:169805
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Nephrocalcinosis,... OMIM:300554
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, El... OMIM:264700
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin... OMIM:307800
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... ORPHA:79445
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... ORPHA:2501
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... OMIM:227500
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Delayed skeleta... ORPHA:93324
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, El... OMIM:277440
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Nephrocalcinosis,... OMIM:300009
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ... ORPHA:289157
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... ORPHA:324636
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed o... OMIM:617974
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia OMIM:601709
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, F... OMIM:615883
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,... ORPHA:417
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short stature, Short neck, Elevated circulating thyroid-stimulating hormone con... OMIM:612462
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Waddling gait, Hyperphosphaturia, Hypercalcemia,... OMIM:156400
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Anemia ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Bone pain, Growth delay, Iron defic... ORPHA:89937
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R... OMIM:613388
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Pa... ORPHA:249
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket... OMIM:268315
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Hemophilia B
Abnormal bleeding, Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... ORPHA:352540
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Recurrent fractures, Hypercalcemia, Polyuria, Spleno... OMIM:239200
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals OMIM:219900
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Abdominal pa... ORPHA:2494
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Kenny-Caffey Syndrome, Type 1
Short palm, Proportionate short stature, Delayed skeletal maturation, Small hand, Decreased skull... OMIM:244460
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia, Premat... OMIM:618666
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Hemophilia A
Osteoarthritis, Muscle hemorrhage, Bruising susceptibility, Joint hemorrhage, Persistent bleeding... OMIM:306700
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Splenomegaly, Hepatosplenom... OMIM:612526
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Osteoporosis, Rickets, Pigmentary retinopathy, Myoclonus OMIM:560000
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... ORPHA:99642
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Mccune-Albright Syndrome
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype... ORPHA:562
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Short metacarpal, Toe syndactyly, Abnormality of the kidney, Reduced bone mine... ORPHA:2611
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Nephrogenic diabetes insipi... ORPHA:213
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol conce... ORPHA:79506
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Small for gestational age, Splenomega... OMIM:618440
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Difficulty walking, Paralysis OMIM:608634
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Broad-based gait, Recurrent fractures, Inability to walk, Spasticity OMIM:619884
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Dent Disease
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... ORPHA:1652
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bow... OMIM:241500
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating para... OMIM:603233
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... OMIM:179800
Monosomy 5P
Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand, Joint hyperflexibi... ORPHA:281
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Cataract, Reduced bone mineral density, Delayed ossification of carpal bones, Shor... OMIM:618392
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased re... OMIM:614732
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Bone pain, R... OMIM:612089
Hypercholanemia, Familial 1
Rickets OMIM:607748
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Ethanolaminosis
Cardiomegaly OMIM:227150
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Micropenis, Slender long bone, Hyp... OMIM:602361
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis,... OMIM:210250
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Cone-shaped epiphysis, ... ORPHA:3156
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa... OMIM:616583
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency... ORPHA:93315
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... OMIM:241410
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... OMIM:620366
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Ataxia, Joint stiffness, Osteoporosis, Increased bone d... OMIM:136300
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... OMIM:610967
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis, Hepatospl... ORPHA:98850
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... ORPHA:1159
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Flexion contracture, Low anterior hairline, Metaphyseal widening, Leukopen... OMIM:617303
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, M... OMIM:609052
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Bowing of t... ORPHA:2088
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, ... OMIM:601198
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Dysequilibrium Syndrome
Cerebral palsy, Cataract, Ataxia, Gait disturbance ORPHA:1766
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, ... ORPHA:557003
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s... ORPHA:94089
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
Kaposiform Lymphangiomatosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi... ORPHA:464329
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... ORPHA:1901
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short stature, Short neck, Short toe, Osteoporosis, Pseudohypoparathyroidism, S... OMIM:103580
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Osteomyelitis, Short stature, Abnormality of the... ORPHA:47
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Long eyelashes, Hypocalcemia, Failure to... ORPHA:163693
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... OMIM:609223
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the h... ORPHA:166011
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, ... ORPHA:52430
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani... ORPHA:436
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga, Delayed skeletal maturation, Abnormality of the vertebral column, Wris... OMIM:191420
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... ORPHA:175
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... ORPHA:251004
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth r... ORPHA:2323
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... ORPHA:2410
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Short stature, Lar... OMIM:616026
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Talipes equinovarus, Difficulty walking, Paralysis OMIM:613710
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tet... ORPHA:289176
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... OMIM:602080
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Intrauterine growth retardation, Recurrent fractures, Feeding diffic... OMIM:620368
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Osteoporosis, Failur... ORPHA:79301
Metatropic Dysplasia
Cataract, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification,... ORPHA:2635
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Cachexi... ORPHA:77297
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Ollier Disease
Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Bone pain, Osteolysis, Multip... ORPHA:296
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening... OMIM:252500
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... OMIM:146200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos... ORPHA:36913
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... OMIM:619743
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... OMIM:600740
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Bone pain, Gait disturbance, Spastic gait ORPHA:329475
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Crumpled long bones, Short stature, Isosexual precocious... ORPHA:2788
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor... ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... ORPHA:3409
Dysspondyloenchondromatosis
Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Delayed skeletal maturat... ORPHA:85198
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... OMIM:619902
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Attention deficit hyperactivity disorder, Atrial septal defect, Hypercholesterole... OMIM:620211
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... OMIM:618913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... OMIM:618476
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Abnormal hair morphology,... ORPHA:319195
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Cataract ORPHA:35664
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Ar... ORPHA:1059
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... OMIM:177170
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure... ORPHA:85446
H Syndrome
Microcytic anemia, Micropenis, Alopecia, Short stature, Abnormality of the kidney, Delayed skelet... ORPHA:168569
Gaisböck Syndrome
Myocardial infarction, Increased circulating renin level, Overweight, Hypovolemia, Increased mean... ORPHA:90041
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Splenomeg... OMIM:617913
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Analbuminemia
Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... OMIM:616000
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell a... ORPHA:97289
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasi... OMIM:617341
Takayasu Arteritis
Myocardial infarction, Anorexia, Vascular dilatation, Vasculitis, Arterial stenosis, Weight loss,... ORPHA:3287
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... ORPHA:83468
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... ORPHA:93296
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... OMIM:265900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... ORPHA:163634
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling... OMIM:101800
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst, ... ORPHA:2668
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, Abdom... ORPHA:79076
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Osteolysis involving bones of the upper limbs, Bloody diarrhea, Intracran... ORPHA:464321
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Vomiting, Gastroesophageal reflu... ORPHA:85450
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Restricted large joint movement, Disproportionate short-trunk short stature, Platy... ORPHA:163665
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Ataxia, Short stature, Postnatal growth retardation, Osteoporosis, R... OMIM:212750
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Foam cells with lam... OMIM:607616
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Abnormal pelvis bone os... ORPHA:1426
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat... OMIM:609324
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Rhabdoid Tumor
Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Weight loss, Anemia, Hypertens... ORPHA:69077
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dyspla... ORPHA:2370
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Limited elbow extension, Shor... ORPHA:1856
Exudative Vitreoretinopathy 4
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... OMIM:601813
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hai... ORPHA:667
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma OMIM:617343
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... OMIM:604864
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short s... OMIM:259720
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... ORPHA:77259
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Joint hyperflex... ORPHA:230839
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Postnatal gr... OMIM:227810
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Progressive Pseudorheumatoid Dysplasia
Waddling gait, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyph... OMIM:208230
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Stroke OMIM:602248
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Hea... OMIM:182290
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru... OMIM:239000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Ring Chromosome 10 Syndrome
Sandal gap, Cachexia, Tapered finger, Renal hypoplasia/aplasia, Short neck, Hypocalcemia, Intraut... ORPHA:1438
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Polyuria, Decreased circulating parathyroid hormone level, Neph... OMIM:143880
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... ORPHA:2619
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angin... ORPHA:412
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, F... ORPHA:263501
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli... OMIM:610968
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bon... OMIM:174810
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Sparse scalp hair, Recurrent fractures, Postnatal growth retardation, Delayed skeleta... ORPHA:2324
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum... ORPHA:37042
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:143
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Vacuolated lymphocytes, Vomiting, Hyponatremi... ORPHA:275761
Odontochondrodysplasia 1
Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short metacarpal, Sh... OMIM:184260
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hy... ORPHA:64743
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Lymphangioma, Osteolysis involving bo... ORPHA:73
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Brachydactyly OMIM:615995
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post... ORPHA:93325
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Ora... ORPHA:98870
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... OMIM:615349
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, In... ORPHA:85443
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... OMIM:184252
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Nail dystrophy, Hyp... OMIM:175500
Opsismodysplasia
Short palm, Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared... OMIM:258480
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Hepatocellular carcinoma, Splenome... OMIM:232220
Primary Fanconi Renotubular Syndrome
Bone pain, Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... ORPHA:3337
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... ORPHA:93351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Wide anterior fontanel, Nephroblastoma, Enlar... OMIM:618272
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Brachydactyly, Short stature, Hypocalcemia, Nephropathy,... ORPHA:1563
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati... ORPHA:29073
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... ORPHA:411634
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Th... ORPHA:858
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Congenital Myopathy 15
Osteopenia, Waddling gait, Vocal cord paralysis, Camptodactyly, Joint hypermobility OMIM:620161
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level ORPHA:930
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Mycetoma
Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal ... ORPHA:2583
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert... OMIM:156510
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:99880
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Abn... ORPHA:2591
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Neu-Laxova Syndrome
Osteopenia, Cataract, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Opist... ORPHA:2671
Geroderma Osteodysplastica
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... ORPHA:2078
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Thrombocytope... OMIM:612199
Craniofaciofrontodigital Syndrome
Osteopenia, Abnormal cerebral vascular morphology, Large for gestational age, Gastrointestinal dy... ORPHA:363705
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... OMIM:608836
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Short neck, Postnatal growth retardation, Cryptorchidism, Splenomegaly, Pancreatic ... ORPHA:1655
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematochezia, Chronic ... ORPHA:209964
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of th... ORPHA:1486
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Obesity, Feeding difficulties, Hypercholesterolemia, Joint hypermob... ORPHA:254531
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Myocardial infarction, Cachexi... ORPHA:3452
Wilson Disease
Back pain, Hepatomegaly, Acute hepatitis, Splenomegaly, Jaundice, Bone pain, Hepatitis, Increased... ORPHA:905
Adamantinoma
Pathologic fracture, Bone pain, Hypercalcemia ORPHA:55881
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... ORPHA:157965
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone conc... ORPHA:2238
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Accelerated skeletal ma... ORPHA:1822
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os... OMIM:602557
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Flat capital femoral epiphysis, Delayed skeletal maturation, Genu va... OMIM:608361
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser... OMIM:607326
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... OMIM:614480
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Short stature, Villous atrophy, Elevated circulating C-reactive ... OMIM:616050
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Parkinsonism, Optic atrophy, Macular degeneration, Abnormality of extrapyramidal motor ... OMIM:204200
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... OMIM:251450
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration... OMIM:255800
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Growth delay, Weight ... ORPHA:90362
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Spondylometaphyseal Dysplasia, Axial
Short stature, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Disproportion... OMIM:602271
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Paradoxical increased cortisol sec... ORPHA:189427
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Nausea and vomiting, Rhizomelia, Patent ductus arteriosus, Abnormality of the ... ORPHA:1842
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Limita... ORPHA:343
Wolman Disease
Nausea and vomiting, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal distention, Malnut... ORPHA:75233
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinas... ORPHA:264580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Short neck, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymp... OMIM:235255
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance OMIM:618193
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fibrosis, Hep... ORPHA:79259
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal... OMIM:615085
Neuropathy, Hereditary Motor And Sensory, Russe Type
Claw hand deformity, Difficulty walking, Paralysis OMIM:605285
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Recurrent fractures, Unilateral renal agenesis, Met... OMIM:618188
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... ORPHA:1414
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humer... ORPHA:2741
Leukoencephalopathy With Vanishing White Matter 2
Spasticity, Cataract, Optic atrophy, Unsteady gait OMIM:620312
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Hypospadias, Sandal gap, Rhizomelia, Small for gestational age, Crypt... OMIM:607143
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Temple Syndrome
Hypertriglyceridemia, Short stature, Small for gestational age, Overweight, Flexion contracture, ... OMIM:616222
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Small for gestational age, ... OMIM:617021
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... ORPHA:2176
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hepatomegaly, Short ... OMIM:226980
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... OMIM:271650
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... OMIM:242900
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... OMIM:313420
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Abnorm... ORPHA:577
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Renal... ORPHA:97290
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Waddling gait, Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal s... OMIM:608728
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Dispropor... OMIM:224300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614876
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kin... ORPHA:2785
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... OMIM:234250
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Recurrent fractures, Follicular thyroid carcinoma, Bone pa... ORPHA:319487
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Pycnodysostosis
Decreased response to growth hormone stimulation test, Generalized osteosclerosis, Hypoplastic il... ORPHA:763
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... ORPHA:79319
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Gait disturbance, Vertebral compression f... ORPHA:85193
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinas... ORPHA:79240
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis,... OMIM:232200
Juvenile Paget Disease
Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,... ORPHA:2801
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Myopathy, EMG... ORPHA:71
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... OMIM:126550
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C... ORPHA:99745
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Anorexia, ... ORPHA:33226
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi... ORPHA:247691
Ck Syndrome
Slender build, Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal di... OMIM:300831
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... OMIM:156550
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... ORPHA:85435
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... OMIM:619377
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Disp... OMIM:619131
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Angina pectoris, Tela... ORPHA:93672
Rhyns Syndrome
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal... ORPHA:140976
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Hyperphosphaturia, Short stature, Recurrent fractures, Kyphoscoliosis, Prec... OMIM:163200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Delayed ... OMIM:602111
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Thoracic kyphosis, Hypoalbuminemia, Lumbar hyperlord... ORPHA:505248
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Abnormal finger morphology, Hypertonia, Short palm, Large iliac wing, Cli... ORPHA:2636
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint... OMIM:613658
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Spastic paraplegia, Babinski sign, Reduced bone mineral den... ORPHA:83629
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Waddling gait, Short metacarpal, Short stature, Camptodactyly of finger... OMIM:612350
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... OMIM:619489
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Poor appetite, Abnormal sac... ORPHA:324964
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Vasculitis, Arthritis, Gastrointestina... ORPHA:91138
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Scoliosis, Joint hypermobility, ... OMIM:147060
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hypopar... ORPHA:199299
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral... OMIM:166220
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Abnormal circulating ... ORPHA:101028
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... ORPHA:561
Lysinuric Protein Intolerance
Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Delayed skeletal maturation,... OMIM:222700
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Ataxia, Camptodactyly of finger, Osteoporosis, Abnormal pyramidal sign, Dysmetria, Micr... ORPHA:48431
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Severe short stature, Hyperlordosis, Hypoplasia of the... OMIM:184250
Diamond-Blackfan Anemia 6
Macrocytic anemia, Failure to thrive, Patent ductus arteriosus, Growth delay, Persistence of hemo... OMIM:612561
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, ... OMIM:612847
Distal Renal Tubular Acidosis
Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoacidu... ORPHA:18
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Poor appetite, ... ORPHA:35858
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Chronic kidney disease, Hepatic amyloidosis, Renal amyloidosis, Wri... ORPHA:314652
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Pl... OMIM:230600
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Gastritis, ... ORPHA:809
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in pla... ORPHA:79237
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Postnatal growth retardation, Pyloric stenosis, Obesity... ORPHA:96184
Meckel Syndrome, Type 8
Pericardial effusion, Microphthalmia, Anophthalmia, Enlarged kidney OMIM:613885
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... OMIM:176920
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Flared metaphy... ORPHA:93346
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Hypospadias, Small for gestational age, Short neck, Mu... OMIM:616897
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concent... ORPHA:449400
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris OMIM:614025
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Cataract, Ataxia, Clonus, Retinal dystrophy, Rigidity, Babinski sign, Opti... OMIM:614877
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Sparse hair, Joint laxity, Hepatome... OMIM:218330
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... ORPHA:1782
Colchicine Poisoning
Hyponatremia, Alopecia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Olig... ORPHA:31824
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... ORPHA:371428
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplast... OMIM:215140
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... ORPHA:98826
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Limitation of joint mobility, Arterial stenosis, Cerebral artery atherosclerosis, ... ORPHA:1192
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Waddling gait, Abnor... ORPHA:94068
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Esophageal varix, Leukopenia... ORPHA:974
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Decreased muscle mass, Foot dorsiflexor weakness, Smal... ORPHA:298
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Microphallus, Hyponatremia, Hypospadias, Short stature, Cryptorch... OMIM:617053
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Short stature, Recurrent fractures, Rhiz... OMIM:616229
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Abdominal pain, Polycythemia ORPHA:90042
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... OMIM:256050
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Diarrhea,... OMIM:618963
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Failure to thrive, ... ORPHA:33355
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... OMIM:613849
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Salmonella osteo... OMIM:209950
Horner Syndrome, Congenital
Heterochromia iridis, Paralysis OMIM:143000
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Lo... OMIM:617952
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abdominal pain, Malabs... ORPHA:873
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain... ORPHA:520
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Incr... ORPHA:457395
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Hyperammonemia, Fe... ORPHA:79312
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Short hallux, De... OMIM:239850
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... ORPHA:93304
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Sco... OMIM:615220
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Short stature, Splenomegaly... OMIM:263700
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Abscess, Elevated circula... ORPHA:36234
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Postural tremor, Babinski sign, Flexion contracture, ... ORPHA:99947
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Hyperactivity, Failure to thrive, Optic atrophy OMIM:274270
Autosomal Dominant Hypocalcemia
Alopecia, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypo... ORPHA:428
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ab... ORPHA:93323
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ... OMIM:230800
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Richards-Rundle Syndrome
Ataxia, Joint stiffness, Reduced bone mineral density, Hypertonia, Gait disturbance ORPHA:1399
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Severe short stature, Rhizomelia, Wid... OMIM:619598
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... OMIM:253000
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Paralysis, Knee flexion contracture OMIM:616286
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ... OMIM:259600
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro... ORPHA:280062
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Failure to thrive in infancy, Equinus calcaneus, C... ORPHA:746
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... ORPHA:239
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... OMIM:313400
Raine Syndrome
Increased bone mineral density, Hydroureter, Bowing of the long bones, Short stature, Highly arch... OMIM:259775
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Broad hallux, Shuffling gait, Hypermobility of interphalangeal joints, Broad thumb ORPHA:3433
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Rod-cone dystrophy, Achilles tendon contracture, Babinski sign, Optic atrophy, ... OMIM:612674
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... ORPHA:485
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Myocardial ... ORPHA:91139
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calva... ORPHA:2772
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Short stature, Metaphyseal spurs, Postaxial polydactyly, Met... OMIM:613091
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Ataxia, Proteinuria, Splenomegaly, De... ORPHA:77261
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Lethal Congenital Contracture Syndrome 8
Hammertoe, Flexion contracture, Vocal cord paralysis, Distal arthrogryposis OMIM:616287
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... ORPHA:405
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Retinal detachment, Cataract, Genu valgum, Joint hyperflexibility, Astigmat... ORPHA:250984
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight l... ORPHA:507
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat... OMIM:619662
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Ocul... ORPHA:529665
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, ... OMIM:614702
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Disproportionate short-limb short stature, Decreased calvarial ossif... OMIM:259410
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Calcinosis, ... ORPHA:2909
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Hip dislocation,... OMIM:618395
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive OMIM:230350
Trisomy 13
Anophthalmia, Ventricular septal defect, Abnormal retinal vascular morphology, Optic atrophy, Apl... ORPHA:3378
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Short statur... ORPHA:2484
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentr... ORPHA:2796
Double Outlet Right Ventricle
Hypoparathyroidism, Short stature, Abnormality of cartilage of external ear, Hypocalcemia, Failur... ORPHA:3426
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Feeding difficulties, Growth delay, Weight loss ORPHA:79238
Free Sialic Acid Storage Disease
Ataxia, Abnormal pyramidal sign, Reduced bone mineral density, Athetosis, Gait disturbance, Oculo... ORPHA:834
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... OMIM:132450
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo... OMIM:269920
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Limitation of j... ORPHA:157973
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytos... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger, ... ORPHA:251028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Vascular dilatation, Elevated circulating creatinine concentration, Gout, Hyperuri... OMIM:617056
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... ORPHA:79456
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... OMIM:612394
Pleural Mesothelioma
Obstruction of the superior vena cava, Abnormal cardiovascular system physiology, Dysphagia, Weig... ORPHA:50251
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short fo... ORPHA:93299
Congenital Generalized Lipodystrophy
Prominent superficial veins, Hypertriglyceridemia, Congestive heart failure, Skeletal muscle hype... ORPHA:528
Nasu-Hakola Disease
Chorea, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphysis... ORPHA:2770
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Pulmonary Blastoma
Weight loss ORPHA:64741
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal repetitive mannerisms ORPHA:411986
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Coxa valga, Wide anterior fon... ORPHA:163649
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... ORPHA:36426
Laron Syndrome
Severe short stature, Osteoarthritis, Abnormality of the elbow, Truncal obesity, Delayed puberty,... ORPHA:633
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Smith-Mccort Dysplasia 2
Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, Short stature, Hyperlord... OMIM:615222
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... ORPHA:163979
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... OMIM:224050
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm ORPHA:168555
Cataract 11, Multiple Types
Hypertonia, Chorea, Cataract, Developmental cataract OMIM:610623
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Ataxia, Thick hair, Postnatal growth retardation, Wide anterior fonta... ORPHA:357058
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Hennekam Syndrome
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ... ORPHA:2136
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... ORPHA:71493
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Hi... OMIM:616507
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase... ORPHA:2769
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Abnor... OMIM:314390
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Obesity, Hypertension, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu... ORPHA:284289
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... ORPHA:536471
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal ma... ORPHA:582
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Pseudopseudohypoparathyroidism
Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Brachydactyly OMIM:612463
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Chondroitin sulfate excretion in u... OMIM:253010
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Short st... ORPHA:1830
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... OMIM:259770
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Anauxetic Dysplasia 3
Sparse scalp hair, Broad eyebrow, Short metacarpal, Severe short stature, Thoracolumbar kyphoscol... OMIM:618853
Isolated Congenital Hypoglossia/Aglossia
Gastrostomy tube feeding in infancy, Nasogastric tube feeding in infancy, Feeding difficulties, W... ORPHA:141152
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... OMIM:607095
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature ORPHA:71267
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Joint stiffness, Vasculitis, Weight loss, ... OMIM:180300
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Short st... ORPHA:739
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... ORPHA:824
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, In... OMIM:614307
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub... ORPHA:358
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Propionic Acidemia
Pancytopenia, Short stature, Poor appetite, Feeding difficulties in infancy, Thrombocytopenia, Ce... OMIM:606054
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... OMIM:271640
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Re... OMIM:620210
Stormorken Syndrome
Abnormal bleeding, Short stature, Elevated circulating creatine kinase concentration, Epistaxis, ... OMIM:185070
Matthew-Wood Syndrome
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... ORPHA:2470
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Growth dela... ORPHA:469
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Vulval varicose vein, Weight loss, Varicose... ORPHA:71273
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal femur mor... ORPHA:666
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyopathy, Failure to thriv... ORPHA:26792
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... ORPHA:537
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Cutaneous syndactyly, Cardiomegaly OMIM:601005
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla... OMIM:271600
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary c... ORPHA:69663
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97283
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97280
Gm1-Gangliosidosis, Type Iii
Ataxia, Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking of... OMIM:230650
Rin2 Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Joint hypermobility, Cryptorchidism, Increased... ORPHA:217335
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing... ORPHA:221016
Arteriosclerosis, Severe Juvenile
Short stature, Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification o... OMIM:208060
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Corneal scarring, Genu valgum, D... OMIM:309000
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon... OMIM:616294
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... OMIM:604250
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Fem... OMIM:615415
Otospondylomegaepiphyseal Dysplasia
Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor... ORPHA:1427
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... OMIM:618019
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Bone pain, Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Mucopolysaccharidosis, Type Vii
Short neck, Accelerated skeletal maturation, Flexion contracture, Coarse hair, Narrow greater sci... OMIM:253220
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... ORPHA:899
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea, Growth delay... OMIM:226300
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Abdominal pain, Chronic diarrhea, Oligoarthritis, Chronic ... OMIM:142680
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Short stature, Overweight, Dilated cardiomyopathy, Renovascular hypertensio... ORPHA:401923
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Congestive heart failure, Leukocytosis, Ga... ORPHA:67
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Postaxial hand polydactyly, Hepa... OMIM:200995
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias,... OMIM:102500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... ORPHA:404454
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Weight loss, Cardiomyopathy, Abnormal autonomic nervous system p... ORPHA:85447
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Cardiomegaly, Accelerated skeletal maturation, Shoulder dislocation, Disl... OMIM:245600
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... ORPHA:85172
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Short neck, Hypop... OMIM:264180
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Cleidocranial Dysplasia
Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased skull ossificatio... ORPHA:1452
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy, Dysphagia OMIM:271930
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Increased body weight, Growth delay, Macro... OMIM:614450
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcem... OMIM:619991
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the ... OMIM:618641
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Talipes equinovarus, Jo... OMIM:617481
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Scoliosis, Neutropenia, Lymphopenia, Reduced natural kille... OMIM:619752
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Platyspondyly, Abn... ORPHA:93267
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys... OMIM:300232
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morp... ORPHA:177
Arthrogryposis, Distal, Type 2A
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Neck joint... OMIM:193700
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Spastic diplegia, Developmental cataract, Cam... OMIM:619420
Lathosterolosis
Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Lumbosacral meningocele, Ac... OMIM:607330
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... OMIM:208920
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Hepat... ORPHA:31150
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Anemia ORPHA:37748
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly ORPHA:93283
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Failure to thrive, Persistent left sup... OMIM:619151
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Short stature, Small for gestational age, Cardiomegaly, Short neck, Wide d... OMIM:613320
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Ataxia, Recurr... ORPHA:1764
Maternal Uniparental Disomy Of Chromosome 1
Cataract, Ataxia, Abnormal limb bone morphology, Epiphyseal stippling, Progressive spasticity ORPHA:251009
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Sudden cardiac de... OMIM:610198
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph... OMIM:300438
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss ORPHA:100083
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hypoplasia of the musculature, High-output congestive... ORPHA:231226
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,... ORPHA:140
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... OMIM:616834
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... OMIM:617718
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Brachyolmia, Maroteaux Type
Platyspondyly, Short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Abdominal pain, Peritonitis, Growth delay, Hypoalbumine... ORPHA:567548
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... OMIM:615631
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... OMIM:177650
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentrati... ORPHA:209902
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Alg9-Cdg
Short neck, Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, Rhizomelia, W... ORPHA:79328
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst, Gait disturbance, Urinary incontinence OMIM:221770
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Intrauterine grow... ORPHA:1775
Desbuquois Dysplasia 2
Short neck, Synophrys, Metaphyseal widening, Short phalanx of finger, Genu varum, Joint laxity, S... OMIM:615777
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Increased suscepti... ORPHA:90354
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failure, Weight loss, Episodic abdom... ORPHA:94080
Beta-Thalassemia Major
Extramedullary hematopoiesis, Anemia of inadequate production, Hypoplasia of the musculature, Hig... ORPHA:231214
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Akinesia, Flexion contracture, Increased susceptib... OMIM:253290
Microphthalmia, Syndromic 9
Anophthalmia, Truncus arteriosus, Ventricular septal defect, Bilateral microphthalmos, Hypoplasti... OMIM:601186
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Wolfram Syndrome
Gastrointestinal hemorrhage, Joint stiffness, Feeding difficulties in infancy, Malabsorption, Car... ORPHA:3463
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... ORPHA:3208
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Ataxia, Broad-based gait, Rod-cone dystrophy, ... OMIM:609033
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... OMIM:183900
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... OMIM:166200
Stickler Syndrome Type 1
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... ORPHA:90653
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o... OMIM:619636
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... OMIM:618183
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... ORPHA:363618
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100082
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... OMIM:602390
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... ORPHA:900
Odontochondrodysplasia
Bowing of the long bones, Short stature, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibilit... ORPHA:166272
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Short stature, Failure to thri... ORPHA:388
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Bone pain, Coarse hair, Decreased skull... ORPHA:955
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Classic Galactosemia
Speech apraxia, Cataract, Ataxia, Incoordination, Postural tremor, Osteoporosis, Reduced bone min... ORPHA:79239
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath... OMIM:205400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Os... ORPHA:536467
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Grange Syndrome
Short palm, Syndactyly, Increased susceptibility to fractures ORPHA:79094
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Ovarian neoplasm, Reduced bone mineral density, Lymphangioma, Neoplasm of th... ORPHA:137608
22Q11.2 Deletion Syndrome
Short neck, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypothyroidism, Hypopa... ORPHA:567
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... OMIM:617425
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, N... ORPHA:95409
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Short stature, Joint stiffness, Delayed skeletal maturation, Platy... ORPHA:2107
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Difficulty ... ORPHA:171433
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... OMIM:607944
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Ataxia, Recurrent fr... ORPHA:478
Tuberculosis
Weight loss ORPHA:3389
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... ORPHA:91547
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu... ORPHA:2557
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Flynn-Aird Syndrome
Cataract, Ataxia, Joint stiffness, Bone cyst, Rod-cone dystrophy ORPHA:2047
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Malabsorption, Abnormal circula... ORPHA:440437
Oculodentodigital Dysplasia
Clinodactyly, Microcornea, Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Short hallu... ORPHA:2710
Anti-Glomerular Basement Membrane Disease
Arthritis, Vasculitis, Anemia, Purpura ORPHA:375
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Broad-based gait, Short stature, Recurrent fractures, Ky... OMIM:309583
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,... ORPHA:581
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility OMIM:619115
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... OMIM:112240
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Vascu... OMIM:277175
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Limited elbow movement, Joint stiff... OMIM:614008
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Short stature, Autoimm... ORPHA:77293
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... OMIM:188400
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... OMIM:615986
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Hamamy Syndrome
Osteopenia, Microcytic anemia, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of ha... OMIM:611174
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Abdominal pain, Dilated cardi... ORPHA:563
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Curly eyelashes, Short neck, Car... ORPHA:1517
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Stuve-Wiedemann Syndrome 1
Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair, Short tibia, Sh... OMIM:601559
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor morphology, J... OMIM:604841
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Increased susceptibility to fractures, Tip-toe gait, Gait disturb... ORPHA:216866
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Potocki-Lupski Syndrome
Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Feeding difficulties in infa... OMIM:610883
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Rheumatoid arthritis, Failure t... ORPHA:79128
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... ORPHA:2050
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Small hand, Short foot, Hypocalce... OMIM:300712
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of... OMIM:618958
Fructose Intolerance, Hereditary
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonaturia, Proximal rena... OMIM:229600
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Failure to thrive, Anemia OMIM:616740
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis, Ca... OMIM:606069
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Hepatosplenomega... OMIM:606003
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Bardet-Biedl Syndrome 20
Papilledema, Atrial septal defect, Obesity, Retinal vascular tortuosity, Hypercholesterolemia, Ro... OMIM:619471
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:312150
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Recurrent fractures, Tarsal syno... ORPHA:565
Senior-Loken Syndrome 9
Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Polydactyly,... OMIM:616629
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Abnorm... ORPHA:1979
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Generalized hirsutism, Ataxia, Short stature, Hyperlordosi... ORPHA:354
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou... ORPHA:90060
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy... ORPHA:391428
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Thanatophoric Dysplasia
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint... ORPHA:2655
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Failure to thrive, Hyperammonemia, Nausea and vomiting ORPHA:28
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hyperinsulinemia, Hyper... ORPHA:508
Anencephaly 2
Anophthalmia OMIM:619452
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Felty Syndrome
Pericarditis, Thrombocytopenia, Abnormal joint morphology, Limitation of joint mobility, Splenome... ORPHA:47612
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... ORPHA:171876
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Diabetes mellitus, Pancreatitis, Leukocyto... ORPHA:544482
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Dental Anomalies And Short Stature
Short stature, Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, S... OMIM:601216
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Arachnodactyly, Ataxia, Ocular albinism, Reduced bone mineral density, Hypertonia, Abno... ORPHA:2720
Stüve-Wiedemann Syndrome
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypothyroidism, ... ORPHA:3206
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Patent ductus arteriosus, Abdominal distention, Elevated circulating creatinine... OMIM:608104
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Bone pain, Ava... ORPHA:355
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Optic atrophy, Anemia, Pigmentar... ORPHA:90321
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... OMIM:300972
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Zygomycosis
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat... ORPHA:73263
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Volvulus, Intu... OMIM:112200
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Joint stiffness, Feeding diffi... ORPHA:819
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100080
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Wide anterior fontanel, Renal tubular dysfunction, Growth delay, Hyperbilirubinemi... OMIM:614886
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Severe short stature, Ab... ORPHA:93316
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo... OMIM:235200
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Decreased muscle mass, Stiff interphalangeal joints, Portal hypertension, Abdominal ... ORPHA:465508
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly OMIM:614096
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Ankle swelling, Joint stiffness, Knee osteoarthritis, Flexion ... ORPHA:85408
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... OMIM:151210
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Increased urinary glycerol, Short stature, Hyper... OMIM:307030
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Flexion contracture, Optic atrophy, Gait disturbance, Retinal ... ORPHA:272
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short stature, Short neck, ... ORPHA:85194
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... ORPHA:183
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Seizures-Scoliosis-Macrocephaly Syndrome
Broad-based gait, Overlapping toe, Reduced bone mineral density ORPHA:466926
Marinesco-Sjögren Syndrome
Short palm, Cataract, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Ri... ORPHA:559
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Premature osteoart... OMIM:215150
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Small for gestational age, ... OMIM:224120
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Larg... ORPHA:500095
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Lo... ORPHA:86816
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita... OMIM:619046
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Juvenile cataract, Metaphyseal... ORPHA:221008
Joubert Syndrome 21
Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy OMIM:615636
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Abnormal hair mor... ORPHA:2314
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... ORPHA:144
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Broad distal pha... OMIM:609465
Spondyloocular Syndrome
Osteopenia, Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping t... OMIM:605822
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Short neck, Cardiomegaly, Microvesicular hepatic s... OMIM:300855
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Accelerated skeletal maturation, Large for gestational age, V... ORPHA:116
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... ORPHA:2347
Acquired Methemoglobinemia
Tachycardia, Abdominal pain, Syncope, Vomiting, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Chronic Hiccup
Malnutrition, Abnormality of the diaphragm, Weight loss ORPHA:396
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormality of nail color, Brachydactyly, Short stature, Joint stiffness, D... ORPHA:1824
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Cataract, Rhizomelia, Optic nerve hypoplasia, Flexion contracture, Epi... OMIM:222765
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Short stature, Microcytic anemia, Flexion contracture, Bruising susceptibility... ORPHA:98791
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative col... ORPHA:99867
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Ataxia, Truncal titubation, Rod... ORPHA:88628
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, H... ORPHA:2169
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Classic Homocystinuria
Gastrointestinal hemorrhage, Recurrent fractures, Anorexia, Pulmonary embolism, Joint stiffness, ... ORPHA:394
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Feeding difficulties, Leukopenia, H... OMIM:613845
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97278
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Hematemesis, Increased circulating ferritin c... OMIM:615846
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaund... ORPHA:290
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Pfapa Syndrome
Nausea and vomiting, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Arthritis ORPHA:42642
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Clumsiness ORPHA:309288
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, We... ORPHA:54251
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abdominal pain, Cong... OMIM:615895
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral... OMIM:119600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor, Ventricular septal defect, Hepatomegaly OMIM:613730
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Stereotypica... OMIM:617302
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdominal pain, Leuko... ORPHA:340
Atelosteogenesis Type I
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... ORPHA:1190
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Hypertension, Co... OMIM:618886
Czech Dysplasia
Waddling gait, Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... OMIM:609162
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... OMIM:618150
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Short neck, Low anterior hairline, Coxa vara,... ORPHA:800
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Short distal phalanx of finger OMIM:302950
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Short statur... OMIM:613848
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Babinski sign, Osteoporosis, Abnormal pyramidal sign, Ankle ... OMIM:213700
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Grow... OMIM:615234
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss... OMIM:269250
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Vomiting, Hypocholesterolem... ORPHA:14
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Narrow greater sciatic... ORPHA:508533
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... OMIM:615873
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Atri... ORPHA:49827
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Hitchhiker thumb, Hypospadias, Sandal gap, Adrenal hypoplasia, P... OMIM:612651
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Short stature, Small for gestational a... OMIM:260400
Sarcosinemia
Hypertrophic cardiomyopathy, Hypersarcosinemia, Optic atrophy, Pulmonic stenosis ORPHA:3129
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Phalangeal dislocation, Scoliosis ORPHA:85174
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:139471
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Anorexia, Abdominal pain, Splenomegaly, Malabsorption, Diarrhea, ... ORPHA:2930
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Kyphosis, Synophr... ORPHA:476126
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... ORPHA:767
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss, Anemia ORPHA:83469
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Joint stiffness, Hypoplastic il... ORPHA:1860
Variegate Porphyria
Paralysis OMIM:176200
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myositis, M... ORPHA:117
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
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Brachyolmia Type 2
Platyspondyly, Short stature OMIM:613678
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Anorexia, Hyperammonemia, Weight loss, Growth delay, Thrombocytopenia ORPHA:79242
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Inability to walk, Limb pain, Steppage gait, Gait imbalance, Pathologic fracture ORPHA:36386
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Tibial bowing,... ORPHA:453510
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Abnormal aortic morphology, Anemia, Intestinal atresia ORPHA:3405
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... ORPHA:1345
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ve... OMIM:615673
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Femoral bowing, C... OMIM:620076
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Recurrent fractures, Delayed skeletal maturation, Elevated circ... OMIM:601812
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... ORPHA:97282
Infantile Refsum Disease
Hepatomegaly, Failure to thrive, Facial palsy, Optic atrophy, Elevated circulating phytanic acid ... ORPHA:772
Peroxisome Biogenesis Disorder 3B
Abnormal bleeding, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, F... OMIM:266510
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Meckel Syndrome
Accessory spleen, Anophthalmia, Abnormal chorioretinal morphology, Pancreatic fibrosis, Asplenia,... ORPHA:564
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Sparse scalp hair, Long toe, Arachnodactyly, Recurrent fractures, Crani... OMIM:130070
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... OMIM:612840
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Galloway-Mowat Syndrome 7
Cubitus valgus, Dilated cardiomyopathy, Hypercholesterolemia, Short stature OMIM:618348
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly ORPHA:1914
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Vocal cord paralysis, Knee flexion contracture, Talipes equi... OMIM:615490
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Anemia ORPHA:371
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Ventricular septal defect ORPHA:77298
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia, Joint stiffness ORPHA:1144
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97261
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Short stature, Coxa valga, Delayed skeletal maturation, Genu valgum, Hypophosp... OMIM:613312
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Bowing of the legs, Hypothyroidism, Juveni... ORPHA:1855
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Abdominal pain, Abd... ORPHA:330015
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Anorexia, Abdominal pain, Vasculi... ORPHA:397
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale OMIM:618652
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia OMIM:256700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis, Genu valgum OMIM:614880
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Secondary Intestinal Lymphangiectasia
Lymphopenia, Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Right ventricular fa... ORPHA:90363
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Portal hypertension, Osteoporosis, Hepatosplenomegaly, Weight los... OMIM:619487
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Short stature, Recurrent fractures, Femoral retroversion, Bowing... OMIM:610682
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossificat... ORPHA:90674
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Cardiomyopathy, Leukope... ORPHA:27
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,... OMIM:249270
Morquio Syndrome C
Platyspondyly, Severe short stature OMIM:252300
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vertebrae, Renal agenesis,... OMIM:306955
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros... OMIM:617306
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat... ORPHA:466650
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Elevated ... ORPHA:160
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfu... ORPHA:31826
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Neutrophilic Dermatosis, Acute Febrile
Anemia, Small vessel vasculitis, Dilated cardiomyopathy, Elevated circulating C-reactive protein ... OMIM:608068
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Villous atrophy, Feeding difficulties in infancy, Diarrhea, Flexion con... OMIM:212065
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhe... OMIM:301074
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,... ORPHA:913
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... ORPHA:829
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... OMIM:312870
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Grange Syndrome
Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures... OMIM:602531
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Periodic hypo... OMIM:259730
Thanatophoric Dysplasia Type 2
Short stature, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Joint hyperflex... ORPHA:93274
Holoprosencephaly
Hyponatremia, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Failu... ORPHA:2162
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Facial palsy, Thrombocytopenia, Anemia OMIM:616435
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Livedoid Vasculopathy
Enlargement of the ankles, Pancytopenia, Telangiectasia of the skin, Abnormal capillary morpholog... ORPHA:542643
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Patent ductus arteriosus, Feeding difficulties, Persistence of hemoglo... OMIM:619769
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations OMIM:188580
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... ORPHA:48918
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Weight loss, Feeding diff... ORPHA:221098
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... ORPHA:330001
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi... OMIM:243800
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... OMIM:266500
Hereditary Spherocytosis
Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Abdominal pain, Sple... ORPHA:822
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... ORPHA:416
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Short stature, Small for gestational age, Megaloblastic ane... OMIM:277380
Occipital Horn Syndrome
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... OMIM:304150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Broad-based gait, Ataxia, Short stature, Hepatocellular carcinoma, Microvesicular h... OMIM:256810
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L... OMIM:607115
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... OMIM:253250
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy OMIM:612989
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ... ORPHA:398124
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Joint stiffness, Postnatal growth retardation, Hyperlipidemia, Flexion co... OMIM:248370
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Optic atrophy, Osteopetrosis, Optic nerve co... OMIM:612301
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accelerated skeletal matura... OMIM:602535
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Venous insufficiency, Abnormality of the spleen, Diarr... ORPHA:33276
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, ... ORPHA:42
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Paralysis, Rigidity, Bone cyst, Osteolysis, Tetrapleg... ORPHA:2396
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenos... ORPHA:251071
Stiff Skin Syndrome
Cataract, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Camptod... OMIM:184900
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Muscular edema ORPHA:3165
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Short thumb, Limitation of joint mobility, Brachydactyly ORPHA:3449
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:2658
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia, Hypocalcemia ORPHA:2306
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Peripheral Primitive Neuroectodermal Tumor
Abnormal bleeding, Nausea and vomiting, Torticollis, Elevated carcinoma antigen 125 level, Elevat... ORPHA:370348
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Abnormal circulating selenium concentration, Flexion contracture, Hypoal... ORPHA:89842
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556030
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Premature Aging Syndrome, Okamoto Type
Cataract, Osteoporosis OMIM:601811
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Megalocornea, Hypoplastic ischia, Bowing of the legs, Congenital stationary night bli... ORPHA:313855
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless... OMIM:608654
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Postnatal growth retardation, Abnormal erythro... ORPHA:288
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Skele... OMIM:151660
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... ORPHA:99827
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556037
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Hereditary Central Diabetes Insipidus
Growth delay, Diarrhea, Vomiting, Weight loss ORPHA:30925
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ... ORPHA:2715
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Cataract, Joint stiffness, Tremor, Inability to walk, ... OMIM:617988
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epip... OMIM:619269
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Trisomy 1Q
Anophthalmia, Ventricular septal defect ORPHA:261344
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol... ORPHA:276280
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Arthritis... ORPHA:761
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Brucellosis
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Leukopenia,... ORPHA:1304
Neuhauser Syndrome
Osteopenia, Genu recurvatum, Short stature, Genu valgum, Dysphagia, Hypercholesterolemia OMIM:249310
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
46,Xx Gonadal Dysgenesis
Osteopenia, Arachnodactyly, Ataxia, Reduced bone mineral density, Osteoporosis of vertebrae ORPHA:243
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Rocker bottom foot, Adducted thumb ORPHA:89844
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, 2-3 toe syndactyly, Ver... OMIM:617866
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Huntington Disease-Like 2
Weight loss ORPHA:98934
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... OMIM:184253
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... OMIM:612813
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Synophrys, Low anterior hairline, Irregular vertebral endplates, Posterior scalloping... OMIM:610442
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Failure to thrive, Optic atrophy OMIM:607196
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami... ORPHA:67036
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia, Gout ORPHA:510
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Cataract, Hoffmann sign, Babinski sign, Spastic gait, Spas... OMIM:601162
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Gastrointestinal dysmotility, Vomiting, Ne... ORPHA:90051
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Ruijs-Aalfs Syndrome
Cataract, Down-sloping shoulders, Posterior subcapsular cataract, Elbow flexion contracture, Oste... OMIM:616200
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, Anophthalmia OMIM:206920
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... OMIM:300842
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Anorexia, Right ventricular failure, Poor appetite, Bowel urgency, Weigh... ORPHA:97287
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degeneration, Myoclonus OMIM:619780
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:276621
Monosomy 13Q34
Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly... ORPHA:96168
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Elevated circulating C-reactive protein concentration, An... ORPHA:49041
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Elevated amniotic fluid alpha-fetoprotein, Limb hypertonia, Severe failure to thri... ORPHA:423479
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, ... OMIM:235555
Charge Syndrome
Decreased response to growth hormone stimulation test, Hemivertebrae, Gonadotropin deficiency, Ha... OMIM:214800
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... OMIM:618839
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Sparse eyebrow, Kypho... ORPHA:3063
Weill-Marchesani Syndrome 1
Thin bony cortex, Cataract, Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior ... OMIM:277600
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh... ORPHA:188
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... OMIM:618835
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia OMIM:250800
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... OMIM:612714
Weill-Marchesani Syndrome 2
Iridodonesis, Short metacarpal, Cataract, Joint stiffness, Broad metatarsal, Lens luxation, Ectop... OMIM:608328
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Hyperammonemia, Intracranial hem... ORPHA:90062
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Inflammatory Bowel Disease 28, Autosomal Recessive
Enterocolitis, Hematochezia, Growth delay, Colitis, Crohn's disease OMIM:613148
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Isolated Sedoheptulokinase Deficiency
Short stature, Diastasis recti, Portal hypertension, Flexion contracture, Hypochromic microcytic ... ORPHA:440713
Stickler Syndrome, Type I
Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis... OMIM:108300
Liposarcoma
Nausea and vomiting, Varicose veins, Abdominal pain, Weight loss ORPHA:69078
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... OMIM:616648
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... ORPHA:29072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612926
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Anorexia, Reye syndrome-like episodes, Leukocytosis, Dilated cardiomyopathy, Diar... ORPHA:20
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Tricuspid stenosis, Thrombocytosis, Congenital hypoplastic anem... OMIM:105650
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypertension, Dysphagia, Limb muscle weakness ORPHA:97229
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait di... OMIM:616586
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Mydriasis ORPHA:230800
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Hypercholesterolemia, Abnormal repetitive mannerisms ORPHA:2479
Fanconi Anemia, Complementation Group V
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropeni... OMIM:617243
Alg12-Cdg
Hyponatremia, Ulnar deviation of the wrist, Intestinal malrotation, Thrombocytopenia, Patent duct... ORPHA:79324
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Abnormality of the thenar eminence, Short stature,... ORPHA:124
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... ORPHA:2614
Fibrochondrogenesis 1
Short palm, Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Short ... OMIM:228520
Mucolipidosis Type Ii
Knee flexion contracture, Telangiectases of the cheeks, Prominent metopic ridge, Short stature, L... ORPHA:576
Q Fever
Pericarditis, Osteomyelitis, Anorexia, Abnormal vascular morphology, Myocarditis, Thrombocytopeni... ORPHA:781
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612924
Christianson Syndrome
Decreased muscle mass, Cachexia, Feeding difficulties in infancy, Joint hyperflexibility, Gastroe... ORPHA:85278
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephroblastoma, Wide anterior fontanel, Stage 5 chronic kidney disea... OMIM:194080
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Anemia, Limite... OMIM:616738
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Atrial septal defect, Microphthalmia, Trun... ORPHA:2538
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb s... OMIM:618644
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies... OMIM:230000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... OMIM:152950
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Chronic diarrhea, Ileus, Anemia, Arth... OMIM:304790
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal vitreous humor morphology, Abnormal optic nerve morphology, Tricuspid valv... ORPHA:1101
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ... ORPHA:99050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Beta-Ketothiolase Deficiency
Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Hypertension, Vomiting, Hyperurice... ORPHA:134
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly... ORPHA:904
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... OMIM:113500
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnormality of hair... ORPHA:2108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612925
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap... ORPHA:85166
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Facial... ORPHA:261311
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Short stature, Hypocalcemia OMIM:192430
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Short stature, Aplastic anemia,... OMIM:617052
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... OMIM:271665
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cataract, Developmental glaucoma, Flexion contracture, Osteoporosis, Elbow flexion co... OMIM:614438
Severe Congenital Nemaline Myopathy
Hypospadias, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita... ORPHA:171430
Hardikar Syndrome
Vomiting, Short stature, Portal hypertension, Abdominal pain, Patent ductus arteriosus, Pulmonary... OMIM:301068
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short greater sciatic notc... OMIM:187601
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Ataxia, Abnormal tibia morphology, Os... ORPHA:909
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Feeding di... OMIM:616801
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Mucopolysaccharidosis, Type X
Hyperlordosis, Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excr... OMIM:619698
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, V... ORPHA:959
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Accelerated skeletal matur... OMIM:130650
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, D-2... ORPHA:99646
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Adrenomyodystrophy
Megalocornea, Reduced bone mineral density ORPHA:977
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Marshall Syndrome
Retinal detachment, Radial bowing, Cataract, Coxa valga, Hypoplastic ilia, Lens luxation, Ulnar b... OMIM:154780
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Thoracic scoliosis, Recurrent fractures, Long eyelashes, Overlapping fingers OMIM:606056
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Developmental glaucoma, Osteoporosis, ... OMIM:249420
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Short long bone, M... OMIM:614524
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... ORPHA:158061
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Urinary glycosaminoglycan excret... ORPHA:79255
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Optic neuropathy, Broad ischia, Optic atrophy, Diaphys... OMIM:619727
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Di... ORPHA:2556
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cys... OMIM:210710
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Anorexia, Abdomi... ORPHA:100085
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive ORPHA:99931
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Bowel incontinence, Arter... ORPHA:702
Werner Syndrome
Cataract, Osteoporosis, Retinal degeneration, Reduced bone mineral density OMIM:277700
Cryptogenic Organizing Pneumonia
Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig... ORPHA:1302
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Periodic paralysis, Short metatarsal, Small hand,... OMIM:170390
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Early onset of sexu... OMIM:194050
Neurofibromatosis Type 1
Abnormal hair quantity, Ataxia, Recurrent fractures, Abnormality of the upper urinary tract, Join... ORPHA:636
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... ORPHA:70475
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cataract, Femoral retroversion, Pseudobulbar paralysis, Loss of ambulation OMIM:607371
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ste... OMIM:613812
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dysphagia, Rod-cone dys... OMIM:252930
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... ORPHA:447
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Short stature, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus... ORPHA:163966
Rat-Bite Fever
Pericarditis, Parotitis, Myocarditis, Diarrhea, Oligoarthritis, Tendonitis, Weight loss, Arthriti... ORPHA:31205
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Arachnodactyly, Corneal opacity, Ataxia, Abnormal thumb morphology, Limitation of joint... ORPHA:2719
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Juvenile Sialidosis Type 2
Hepatomegaly, Optic atrophy, Hepatosplenomegaly, Abnormal heart morphology, Dysphagia, Cherry red... ORPHA:93399
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... OMIM:108720
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal growth retar... ORPHA:75249
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... ORPHA:1215
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Yellow Fever
Abnormal bleeding, Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supra... ORPHA:99829
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Tremor, Inability to walk, Developmental glaucoma, Vocal cord paralysis, Optic atrophy,... ORPHA:99956
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplas... OMIM:612541
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal pain, Incre... ORPHA:1501
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hematochezia, Prolonged prothrombin time, Decreased serum bile acid concentratio... OMIM:214950
Squamous Cell Carcinoma Of The Anal Canal
Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi... ORPHA:424019
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Recurrent urinary tract infections, Ataxia, Craniosynosto... ORPHA:309282
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Menorrhagia, Constipation ORPHA:168816
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Reduced bone ... ORPHA:324
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... ORPHA:797
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Gait disturbanc... ORPHA:682
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Optic atrophy, Obesity OMIM:614651
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Feeding difficulties in infancy, Thrombocytopenia, Hyperamm... OMIM:251110
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Gastrointestinal hemorrh... OMIM:225400
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Short stature, Kyphosis, Delayed skeletal mat... OMIM:208400
Huntington Disease
Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased body mass in... ORPHA:399
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Joint laxity, Infancy onset short-trunk short stature, Congenital hi... ORPHA:508488
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cataract, High iliac wing, Osteopetrosis, Large iliac wing, Facia... ORPHA:2780
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J... OMIM:603553
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hyposp... ORPHA:2588
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin... ORPHA:171
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Short stature, Intestinal malrotation, Feeding difficulties in infanc... OMIM:244450
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Short stature, Cachexia, Abnormal... ORPHA:109
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Anemia OMIM:121270
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Broad-based gait, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Hypoc... OMIM:620330
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Nasogastric tube feeding in infancy, Elbow flexion cont... ORPHA:371364
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Hypokalemia, Weight loss OMIM:613239
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Charge Syndrome
Anophthalmia, Facial palsy, Optic atrophy, Abnormal cardiac septum morphology, Abnormal aortic va... ORPHA:138
Yao Syndrome
Pericarditis, Abdominal pain, Diarrhea, Xerostomia, Weight loss, Arthritis OMIM:617321
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Small... OMIM:618775
Erdheim-Chester Disease
Nausea and vomiting, Increased bone mineral density, Osteomyelitis, Abdominal pain, Congestive he... ORPHA:35687
Gaucher Disease, Type Ii
Double aortic arch, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuber... OMIM:230900
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Short stature, Abnormal hemoglobin, Aganglionic megacolon, Joint stiffness, ... ORPHA:847
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Anorexia, Diarrhea, Hyperkalemia, Weight loss... ORPHA:361
Wilson Disease
Poor motor coordination, Osteomalacia, Tremor, Rigidity, Osteoarthritis, Osteoporosis, Hand tremo... OMIM:277900
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Conjugat... ORPHA:480520
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Hepatocellular carcinoma, Cho... OMIM:118450
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulat... OMIM:610377
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Ataxia, Short stature, Cryptor... OMIM:139210
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Short stature, Joint hypermobility OMIM:617101
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Thymic Carcinoma
Abnormal vena cava morphology, Weight loss ORPHA:99868
Immunodeficiency 22
Pericarditis, Diarrhea, Capillary leak, Anemia, Protracted diarrhea, Decreased proportion of CD4-... OMIM:615758
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... OMIM:209900
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Myositis, Thrombocytopenia, Splenomegaly, Flexion contra... OMIM:617591
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Pulmonary arteriovenous... OMIM:606721
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... ORPHA:53035
Glycogen Storage Disease Xii
Normocytic anemia, Short stature, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:611881
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Cachexia ORPHA:2471
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Renal artery aneurysm, Portal ... OMIM:615688
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Villous atrophy... OMIM:557000
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Rift Valley Fever
Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Gingival ... ORPHA:319251
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Cataract, Pro... OMIM:600373
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
X Small Rings
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... ORPHA:96201
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymphatic vesse... ORPHA:2330
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... OMIM:616457
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Meta... ORPHA:2774
Alveolar Echinococcosis
Eosinophilia, Portal hypertension, Abdominal pain, Weight loss, Abnormal skeletal muscle morpholo... ORPHA:284
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Anem... OMIM:620358
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Legionnaires Disease
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi... ORPHA:549
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... OMIM:618278
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Weight loss, Sclerosis of skull b... ORPHA:2905
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Gastroesophageal reflux, Constipation, Abnormal... OMIM:312750
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Fat malabsorpt... ORPHA:811
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Mydriasis ORPHA:228371
Renpenning Syndrome
Skeletal muscle atrophy, Severe short stature, Cachexia, Joint stiffness, Growth delay ORPHA:3242
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Beck-Fahrner Syndrome
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Huntington Disease-Like 2
Weight loss OMIM:606438
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Hyperostosis, Limbal dermoid, Heterochro... ORPHA:2969
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... ORPHA:2714
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Hepatosplenomegaly, Abnormal heart morpholo... ORPHA:93400
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Stroke-like epi... ORPHA:79095
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Incontinentia Pigmenti
Finger syndactyly, Retinal detachment, Cataract, Corneal opacity, Camptodactyly of finger, Abnorm... ORPHA:464
Diamond-Blackfan Anemia 10
Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia,... OMIM:613309
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Optic atrophy, Microcornea, Aplas... ORPHA:3301
X-Linked Creatine Transporter Deficiency
Short stature, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileu... ORPHA:52503
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Failure to thrive, An... ORPHA:93598
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cohen-Gibson Syndrome
Osteopenia, Joint laxity, Cataract, Coxa valga, Long fingers, Flexion contracture, Flared metaphy... OMIM:617561
Nephroblastoma
Neoplasm of the liver, Hypertension, Abdominal pain, Weight loss ORPHA:654
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Atrial septal defect, Cardiomegaly, Optic atro... ORPHA:79330
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Japanese Encephalitis
Stiff neck, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow flexion cont... ORPHA:79139
Brittle Cornea Syndrome 2
Gait disturbance, Recurrent fractures, Joint hypermobility OMIM:614170
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Decrea... OMIM:608013
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly, Shortening of all phalanges of fingers, Shortening of all ... OMIM:601356
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Ventricular septal def... OMIM:300166
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Weigh... ORPHA:90003
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterol... OMIM:270400
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Cataract, Camptodactyly of finger, Tars... ORPHA:90652
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Hepatocellular carc... ORPHA:65682
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Silver-Russell Syndrome
Decreased muscle mass, Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth re... ORPHA:813
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly OMIM:619259
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... ORPHA:423
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Palpable purpura, Elevated circu... ORPHA:48435
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Cardiomegaly, Brachial plexus neuropathy, Dys... ORPHA:268
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... OMIM:268800
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus OMIM:118650
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,... OMIM:619418
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Gastroesophageal re... OMIM:619534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Short stature, Aganglionic megac... ORPHA:84
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Intestinal pseudo-obstruction, Oral-pharyngeal dy... ORPHA:273
Acquired Hypertrichosis Lanuginosa
Macroglossia, Chronic diarrhea, Poor appetite, Weight loss ORPHA:2221
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Gastroesophageal reflux, ... OMIM:618186
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Abnormal optic disc morphology, Truncus arteriosus OMIM:617516
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Ankle clonus, Abnormal heart... ORPHA:206436
Juvenile Huntington Disease
Weight loss ORPHA:248111
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Splenomegaly,... ORPHA:93
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, 2-3 toe synd... OMIM:618280
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Portal hypertension, Elevated circulating alpha-fetoprotein conc... OMIM:251880
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Severe short stature, Kyph... OMIM:616482
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Large for gestational age, Cuboid-shaped vertebral bodies, Slen... OMIM:612731
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Elevated circulating alpha-fetoprotein concentration,... ORPHA:420741
Dubowitz Syndrome
Aplastic anemia, Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Ch... OMIM:223370
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Gastroparesis, Centrall... OMIM:607459
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Cardiac arrest, Eosinophilia, Myocarditis, Weight loss, Lymphocytosis ORPHA:139402
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... OMIM:602782
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Joint stiffness, Achilles tendon contracture, Vocal cord paralysis, Elbow flexion ... ORPHA:98863
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism, Pathologic fractu... OMIM:614231
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Joint stiffness, Achilles tendon contracture, Vocal cord paralysis, Elbow flexion ... ORPHA:261
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Joint stiffness, Achilles tendon contracture, Vocal cord paralysis, Elbow flexion ... ORPHA:98853
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Chorioretin... ORPHA:141099
Pyomyositis
Myositis, Leukocytosis, Sudden cardiac death, Weight loss ORPHA:764
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 toe syndactyly... ORPHA:37553
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Poliomyelitis
Stiff neck, Paralysis, Paraparesis, Inability to walk, Hyperkinetic movements, Fasciculations ORPHA:2912
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Anemia ORPHA:52417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, O... OMIM:253800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures, Scolios... ORPHA:435628
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopa... OMIM:105210
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... OMIM:301040
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Progressive flexion contractur... ORPHA:3103
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ven... OMIM:619167
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... OMIM:608710
Sotos Syndrome
Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Vesicoureteral reflux... ORPHA:821
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity, Hepatic steat... OMIM:261680
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Tetraparesis, Tracheomalacia OMIM:203700
Fucosidosis
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Pheochromocytoma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... OMIM:171300
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormality of body weight, Abnormal circulating fatty-... ORPHA:2298
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Recurrent urinary tract infections, Severe short stature, Wide anterior fontanel, H... ORPHA:90349
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain, Pulmonary lymphangiomyomatosis ORPHA:538
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... ORPHA:740
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Slender build, Protrusio acetabuli, Li... ORPHA:558
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Acanthocytosis, Optic atrophy, Pigment... ORPHA:157850
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Dysphagia, Weight loss ORPHA:142
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated ... ORPHA:30391
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating creatine kinase concent... OMIM:164310
Fraser Syndrome 1
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos, Abnormal heart morphology OMIM:219000
Familial Pancreatic Carcinoma
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Poor appet... ORPHA:1333
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia,... OMIM:601552
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Aredyld Syndrome
Splenomegaly, Intrauterine growth retardation, Short stature, Cachexia ORPHA:1133
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Inhalational Botulism
Paralysis, Mydriasis ORPHA:254504
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Coronary artery fistul... OMIM:614294
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Tetrasomy 12P
Joint hyperflexibility, Short stature, Cachexia ORPHA:884
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta... OMIM:207800
Cystic Echinococcosis
Abdominal symptom, Eosinophilia, Weight loss, Hyperbilirubinemia, Splenic cyst, Abnormality of th... ORPHA:400
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Spl... OMIM:615512
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Retinal detachment, Toe syndactyly, Leukocoria, Reduced bone mineral density, ... ORPHA:1556
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... ORPHA:93317
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Foam cells, Weight loss ORPHA:747
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Feeding difficulties in infancy, Splen... ORPHA:1328
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Joint hypermobility, Overweight, Feeding difficulties, Hematochezia, Chronic const... OMIM:619575
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Short finger, Paralysis OMIM:242100
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee clonus, Trunc... OMIM:211530
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... ORPHA:261584
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Arthritis, Vocal cord paralysis ORPHA:397744
Huntington Disease-Like 1
Weight loss ORPHA:157941
Glioblastoma
Paralysis ORPHA:360
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Microphthalmia, Failure to ... ORPHA:137675
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss ORPHA:312
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Short stature, Cachexia, Kyphosis, Osteoarthritis, Bone pain... ORPHA:828
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... ORPHA:300605
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Abdominal pain, Diarrhea, Ent... ORPHA:29207
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esoph... ORPHA:1018
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Optic atrophy, Hyperalaninemia, Failure to thrive OMIM:618249
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Poor a... ORPHA:2020
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity, Hip subl... ORPHA:500144
Solitary Fibrous Tumor
Reduced C-peptide level, Weight loss, Neoplasm of the liver, Constipation, Hypophosphatemic rickets ORPHA:2126
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density ORPHA:935
19Q13.11 Microdeletion Syndrome
Congenital hip dislocation, Cachexia, Feeding difficulties, Growth delay, Intrauterine growth ret... ORPHA:217346
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Short stature, Diffuse alveolar hemorrhage, Descending aorti... OMIM:130050
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Splenomegaly, Abdominal pain, Weight loss ORPHA:33577
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy, Hyperammonemia OMIM:253260
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Increased pulmonary vascular resistance, Abnormal circulating calcium ... ORPHA:60025
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... OMIM:620306
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy OMIM:601539
Mucoepithelial Dysplasia, Hereditary
Melena, Eosinophilia, Chronic diarrhea, Corneal neovascularization OMIM:158310
Short Syndrome
Joint hyperflexibility, Severe short stature, Poor appetite, Weight loss ORPHA:3163
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... OMIM:260920
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Laryngeal Abductor Paralysis
Vocal cord paralysis, Talipes equinovarus OMIM:150260
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Short stature, Cachexia, ... ORPHA:647
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Anorexia... ORPHA:99889
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Hypovolemia, Weight loss, Lower-limb joint contracture, Arthrogryposis m... ORPHA:99885
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, Optic atrophy, True anophthalmia ORPHA:1106
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Oromandibular Dystonia
Torticollis, Dysphagia, Weight loss ORPHA:93958
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive OMIM:610965
Microsporidiosis
Myositis, Osteomyelitis, Cachexia, Anorexia, Abdominal pain, Myocarditis, Abnormality of the sple... ORPHA:2552
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Acrodermatitis Enteropathica
Short stature, Poor appetite, Anorexia, Malabsorption, Chronic diarrhea, Weight loss, Failure to ... ORPHA:37
Mowat-Wilson Syndrome
Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral ref... ORPHA:2152
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility ORPHA:2058
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormality of the kidney, ... ORPHA:2273
Fontaine Progeroid Syndrome
Synophrys, Low anterior hairline, Coarse hair, Micropenis, Syndactyly, Short stature, Cryptorchid... OMIM:612289
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased reti... OMIM:606519
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Focal Dermal Hypoplasia
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia OMIM:305600
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... ORPHA:2388
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Cockayne Syndrome
Skeletal muscle atrophy, Severe short stature, Cachexia, Gastrostomy tube feeding in infancy, Pos... ORPHA:191
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Hereditary Late-Onset Parkinson Disease
Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:411602
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... ORPHA:508498
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Flexion contracture, Bone cyst, Osteolysis, Gait disturbance, Narrow i... ORPHA:3042
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dysphagia, Left v... ORPHA:365
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Severe failure ... ORPHA:97297
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Tsh-Secreting Pituitary Adenoma
Osteopenia, Nausea and vomiting, Supraventricular arrhythmia, Congestive heart failure, Osteoporo... ORPHA:91347
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Osteomalacia, Abnormal retinal artery morphology, Retinal hemorrhag... ORPHA:51608
X-Linked Intellectual Disability, Cabezas Type
Short stature, Camptodactyly of finger, Cachexia, Obesity, Joint hyperflexibility, Cubitus valgus ORPHA:85293
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... ORPHA:677
Tick-Borne Encephalitis
Speech apraxia, Stiff neck, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fas... ORPHA:297
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Blau Syndrome
Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Arthritis, Iritis, Flexion contra... OMIM:186580
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal pai... ORPHA:91500
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Arnold-Chiari Malformation Type I
Stiff neck, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebrae, Progressi... ORPHA:268882
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss ORPHA:704
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Branchiooculofacial Syndrome
Anophthalmia, Facial palsy, Duplication of internal organs, Retinal coloboma, Microphthalmia, Ect... OMIM:113620
Bullous Pemphigoid
Weight loss ORPHA:703
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Ventricular septal defect, Aggressive behavior, Polyphagia, Obesity... ORPHA:96121
Plague
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, Ab... ORPHA:707
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy, Abnormally large globe ORPHA:363417
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Short stature, Cachexia ORPHA:220295
Leptospirosis
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymph... ORPHA:509
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen, Anemia, Pulmonary hemorrhage OMIM:233450
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Decreased circulating cortisol level, Short stature, Hypovolemia, Hyperkalem... ORPHA:90794
African Trypanosomiasis
Papilledema, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Keratit... ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Aganglionic megacolon, Aggressive behavior, Optic disc colob... OMIM:309800
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Chronic Graft Versus Host Disease
Pancytopenia, Anorexia, Abdominal pain, Esophageal stricture, Flexion contracture, Xerostomia, Di... ORPHA:99921
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Pericardial ... OMIM:181000
Microphthalmia, Syndromic 6
Microphthalmia, Failure to thrive, Anophthalmia, Retinal dystrophy OMIM:607932
Perry Syndrome
Weight loss OMIM:168605
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Microcytic anemia ORPHA:293967
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t... ORPHA:424016
Seckel Syndrome
Short stature, Cachexia, Craniosynostosis, Joint hyperflexibility, Intrauterine growth retardation ORPHA:808
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Nausea ORPHA:100086
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Anorexia, Cachexia, Genu varum ORPHA:1969
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
Trisomy 18
Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Esophageal atr... ORPHA:3380
Klatskin Tumor
Cholangiocarcinoma, Abdominal pain, Weight loss ORPHA:99978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Gerstmann-Straussler Disease
Lower limb muscle weakness, Weight loss OMIM:137440
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Weight loss, Abnormality of the extraocular muscles, Thrombocytopenia ORPHA:79078
Pineoblastoma
Papilledema, Retinoblastoma, Paralysis ORPHA:251909
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Tropical Pancreatitis
Malnutrition, Vomiting, Nausea, Weight loss ORPHA:103918
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Severe failure... ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
Neurofibroma
Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Nocardiosis
Pericarditis, Osteomyelitis, Anorexia, Peritonitis, Weight loss, Vomiting ORPHA:31204
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia, Tetralogy of Fallot, Ventricular septal defect OMIM:164210
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Joint stiffn... ORPHA:744
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Norrie Disease
Venous insufficiency, Failure to thrive, Cachexia, Delayed puberty ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gulo

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gulo.

No publications found that use IMPC mice or data for Gulo.

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MGI Allele Allele Type Produced
Guloem1(IMPC)Ccpcz Exon Deletion Mice

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