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Gene: Enpp1 MGI:97370

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms:
Ly-41,  Pca,  E-NPP1,  PC-1,  Npps,  CD203c,  Pca-1,  NPP1,  twy,  4833416E15Rik,  Pdnp1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Enpp1 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.

The table below shows human diseases predicted to be associated to Enpp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Melorheostosis
Skeletal muscle atrophy, Increased bone mineral density, Peripheral arteriovenous fistula, Joint ... ORPHA:2485
Calcification Of Joints And Arteries
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... OMIM:211800
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Cerebral calcification, Kyphoscoliosis, Osteoa... ORPHA:85198
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ... ORPHA:3250
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Limitatio... ORPHA:2619
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone... ORPHA:166119
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Microcephaly With Cervical Spine Fusion Anomalies
Spinal cord compression, Vertebral fusion, Spinal instability OMIM:251250
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Skeletal muscle atrophy, Waddling gait, Knee flexion contracture, Hy... OMIM:606631
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... OMIM:604864
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Waddling gait, Hip contracture, Abnormality of the knee, Severe short stature, Short stature, Pro... ORPHA:99642
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Choroidal neovascularization, Cerebral calcification, Adr... ORPHA:51608
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mo... ORPHA:337
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Ectopic calcification, Hypocalcemia, Low urinary cyclic AMP respon... ORPHA:94090
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Ge... ORPHA:53
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Multiple Epiphyseal Dysplasia, Beighton Type
Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Wa... ORPHA:166011
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Epiphyseal Dysplasia, Multiple, 1
Waddling gait, Severe short stature, Ovoid vertebral bodies, Joint stiffness, Delayed epiphyseal ... OMIM:132400
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Osteochondrosis Of The Tarsal Bone
Antalgic gait, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossific... ORPHA:563991
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Ankylosis, Carotid artery calcification, Arterial stenosis, Genera... OMIM:208000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Familial Isolated Hyperparathyroidism
Osteopenia, Hyperphosphaturia, Renal insufficiency, Hypercalcemia, Hypercalciuria, Nephrocalcinos... ORPHA:99879
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscolio... OMIM:208230
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Alopecia, Osteomalacia, Recurrent fractures, Bone pain, Nephrolithiasis, Abnor... ORPHA:93160
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Sensorineural hearing impairment, Hip dislocation, Coxa ... OMIM:615155
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Multiple Epiphyseal Dysplasia Type 1
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, ... ORPHA:93308
Mesomelia-Synostoses Syndrome
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... ORPHA:2496
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Delayed skeletal maturation, A... ORPHA:2380
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria OMIM:239199
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis, Schmorl's node, Irregular vertebral endplates, Intervert... OMIM:614135
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ... ORPHA:2114
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Delayed epiphy... OMIM:600969
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Hearing impairment, Capitate-hamate fusion, Short toe, Limite... OMIM:614078
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Growth delay, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, ... OMIM:619073
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... OMIM:600081
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... OMIM:178110
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Alkaptonuria
Joint dislocation, Mitral valve calcification, Coronary artery calcification, Joint stiffness, Ao... ORPHA:56
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Vesicoureteral reflux, Conductive hearing ... OMIM:157800
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Inability to walk, Renal hypopl... OMIM:617913
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ... ORPHA:2010
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ... OMIM:203500
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... OMIM:114100
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Waddling gait, Lumbar hyperlordosis, Short stature, Premature osteoarthritis, Hip osteoarthritis,... OMIM:165800
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Hearing impairment, Inability to walk, Limb pain, Distal ... ORPHA:36386
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature,... ORPHA:166002
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Acropectorovertebral Dysplasia
Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Spina bifida, Triphalangeal thumb,... ORPHA:957
Hypoparathyroidism, Familial Isolated, 1
Cerebral calcification, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Multiple Synostoses Syndrome
Joint stiffness, Symphalangism affecting the phalanges of the hand, Short palm, Conductive hearin... ORPHA:3237
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Alopecia, Brachydactyly, Abnormal dental en... ORPHA:1005
Hypocalcemia, Autosomal Dominant 1
Basal ganglia calcification, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hype... OMIM:601198
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide... ORPHA:157215
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis, Abnormal Eustachian tube morphology, Talipes equinovarus,... ORPHA:199302
Hypochondroplasia
Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ... ORPHA:429
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, F... OMIM:615883
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Genu recurvatum, Abnormality of the kidney, Reduced bone mineral density, Scol... ORPHA:2611
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... ORPHA:93311
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Progressive joint ... ORPHA:564003
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Short stature, Platyspondyly OMIM:271600
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Recurrent fractures, Abnormal circulating calcium concentration, Delay... OMIM:241530
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Wrist sw... ORPHA:1159
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Ventricular septal defect, Tracheomalacia, Metatarsus adductus, Osteopathia str... ORPHA:513456
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Short neck, Diaphyseal sclerosis, Hyperphosphatemia, ... ORPHA:94089
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of... OMIM:300554
Stickler Syndrome Type 1
Retinal detachment, Sensorineural hearing impairment, Osteoarthritis, Abnormal vitreous humor mor... ORPHA:90653
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... OMIM:277950
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Osteopenia, Bowing of the long bones, Joint laxity, Epiphyseal dysplasia, Kyph... OMIM:615349
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Osteomyelitis, Sinusitis, Skin rash, Sensorineur... ORPHA:47
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Isolated Glycerol Kinase Deficiency
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteoporosis, M... ORPHA:408
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Scleroti... OMIM:615198
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Recurrent fractures, Hypercalciuria, Amin... OMIM:239200
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement ORPHA:86820
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Gorham-Stout Disease
Osteopenia, Torticollis, Osteomyelitis, Edema, Osteolysis involving bones of the upper limbs, Abn... ORPHA:73
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia OMIM:191420
Calciphylaxis
Ectopic ossification, Arterial calcification ORPHA:280062
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Low a... OMIM:602849
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Short stature, Premature osteoarthritis, Delayed ossific... OMIM:105835
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Synophrys, Sensorineural hearing impairment, Premature... OMIM:148820
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Osteoarthritis, Decreased compound muscle action ... OMIM:620080
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... ORPHA:289601
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Short stature, Osteomalacia, Thin bony cortex, E... ORPHA:289157
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphos... ORPHA:3121
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Dent Disease 1
Delayed epiphyseal ossification, Bone pain, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight... OMIM:300009
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... OMIM:605282
Diastrophic Dysplasia
Cervical kyphosis, Hypertrophic auricular cartilage, Hypoplastic cervical vertebrae, Lumbar hyper... OMIM:222600
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Oculoskeletodental Syndrome
Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Nephrocalcinosis, Abnormality of the f... ORPHA:557003
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... OMIM:264700
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Arthritis, Scoliosis, Intrauterine growth retardation ORPHA:1937
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Low posterior hairlin... ORPHA:1323
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Absent tragus, Preaxial hand polydactyly, Overfolded helix, Abnormal antihe... ORPHA:79113
Waardenburg Syndrome Type 3
Camptodactyly of finger, Hearing impairment, Joint stiffness, White hair, Abnormal finger morphol... ORPHA:896
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Bilateral single transverse palmar creases, S... ORPHA:3191
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Proportionate short stature ORPHA:93283
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormality of the vertebral column, Obesity ORPHA:2206
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, C... ORPHA:93314
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... OMIM:618913
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cerebral calcification, Chi... ORPHA:51
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ric... OMIM:193100
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Tenosynovial Giant Cell Tumor
Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,... ORPHA:66627
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Autosomal Agammaglobulinemia
Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch... ORPHA:33110
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib... OMIM:612286
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Stickler Syndrome, Type I
Arthropathy, Retinal detachment, Arachnodactyly, Joint stiffness, Sensorineural hearing impairmen... OMIM:108300
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Cranio... OMIM:259700
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Vasculitis, Ost... ORPHA:324964
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Short stature, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:614727
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... OMIM:277440
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Premature coro... OMIM:610947
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ver... OMIM:241500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c... ORPHA:93360
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets,... OMIM:307800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneum... OMIM:618282
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Joint stiffness, Postnatal growth retardation, Hyperlipidemia, Flexion co... OMIM:248370
Hypophosphatasia, Childhood
Waddling gait, Short stature, Elevated plasma pyrophosphate, Craniosynostosis, Low alkaline phosp... OMIM:241510
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot osteomyelitis, Osteomyel... OMIM:162400
Desbuquois Dysplasia 1
Joint laxity, Joint dislocation, Waddling gait, Severe short stature, Phalangeal dislocation, Hyp... OMIM:251450
Neuropathy, Hereditary Sensory, Type Ie
Sensorineural hearing impairment, Osteomyelitis, Ataxia, Hearing impairment OMIM:614116
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Basal ganglia calcification, Short metatarsal, Reduced bone mineral densi... ORPHA:79443
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Low posterior hairline, Abnormal shoulder m... ORPHA:2345
Craniodiaphyseal Dysplasia
Optic atrophy, Wide nasal bridge, Conductive hearing impairment, Stenosis of the external auditor... ORPHA:1513
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Prominent superficial veins, Carotid artery stenosis, Cryptorchidism, ... OMIM:618000
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Epiphyseal Dysplasia, Multiple, 2
Waddling gait, Broad-based gait, Knee osteoarthritis, Genu varum, Mild short stature, Osteochondr... OMIM:600204
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Bone pain, Gener... OMIM:613388
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... ORPHA:2916
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Genu var... OMIM:177170
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Delay... ORPHA:93325
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of deltoid muscle, Short femur, Limited interphalangeal moveme... OMIM:147750
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Bone pain, N... ORPHA:1652
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodac... ORPHA:915
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hyperphosphaturia, Waddling gait, Hypercalcemia, Hypercalciuria, Kne... OMIM:156400
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment ORPHA:1705
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Increased bone mineral density, Delayed closure of the a... OMIM:127000
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Ectopic calc... ORPHA:2762
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ... ORPHA:2332
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Sensorineural hearing impairment, Short foot, Cone-s... ORPHA:53271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossifi... OMIM:271640
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syn... ORPHA:313892
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, Osteoporosis, Dys... ORPHA:48431
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Syringomyelia, Scoliosis, Butterfly v... OMIM:122600
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Short stature, Fractures of the long bones, Osteoporosis, Pl... ORPHA:319195
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Osteoarthritis, Abnormal metacarpal morphology ORPHA:166100
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Peripheral Dysostosis
Osteoarthritis, Short stature, Joint stiffness ORPHA:1795
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Low posterior hairline, ... OMIM:214300
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Basal ganglia calcification, Flexion contracture, Premature gr... ORPHA:90324
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification OMIM:614473
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Premature osteoarthritis OMIM:184840
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness ORPHA:1345
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Cerebral calcification, Short neck, Basal ganglia cal... ORPHA:79444
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynostosis, Eczema, Abnormal hai... ORPHA:2314
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... ORPHA:210110
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... ORPHA:90652
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... ORPHA:3416
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Foot osteomyelitis, Decr... OMIM:600882
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Short palm, Conductive hearing impairment, Synostosis of c... ORPHA:3238
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... OMIM:619473
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Mitral valve calcification, Broad-based gait, Aortic valve calcificat... ORPHA:2072
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... ORPHA:370010
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rickets, Medullary ... OMIM:613312
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Gaucher Disease
Joint dislocation, Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthri... ORPHA:355
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Short metacarpal, Enlarged joints, Posteriorly rotated ears, Sandal gap, Abno... ORPHA:1427
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Ventricular septal defect, Pterygium, Camptodacty... ORPHA:2876
Cystinosis
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Myopathy, Hypokalemia, Amin... ORPHA:213
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Posteriorly rotated ears, Small for gestational age, Kyphosis, Reduced bone mine... OMIM:618392
Abruzzo-Erickson Syndrome
Atrial septal defect, Toe syndactyly, Hypospadias, Coronal hypospadias, Sensorineural hearing imp... ORPHA:921
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Oncogenic Osteomalacia
Hyperphosphaturia, Bone pain, Increased susceptibility to fractures, Renal phosphate wasting, Gai... ORPHA:352540
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype... OMIM:601492
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic... ORPHA:2549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... OMIM:606612
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Protruding ear, Abnormal bone... ORPHA:93315
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Epiphyseal Dysplasia, Multiple, 5
Short stature, Premature osteoarthritis, Genu valgum, Delayed ossification of carpal bones, Delay... OMIM:607078
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bone pain, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Increased bone mineral density, Ectopic ossification OMIM:602475
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter... ORPHA:365
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Short stature, Reduced bone mineral density, Platyspondyly, Delayed ossification o... OMIM:617974
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Mitral valve calcification, Hepatomegaly, Abnormal circulating calcium c... ORPHA:60025
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Hearing impairment, Short neck, Sensorineural hearing impairment, Low p... OMIM:118100
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Mild postnatal growth retardation, Ankle swelling, Joint stiff... ORPHA:85408
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Short stature ORPHA:63442
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Short foot, Microtia, Joint contracture of the 5th finger, Clinodactyly of the... OMIM:248910
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling, Abno... ORPHA:1525
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Nephr... ORPHA:264450
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Wormian bones, Bicuspid aortic valve, Posteriorly rotated e... OMIM:130720
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... ORPHA:93672
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Delayed epiphyseal ossificat... ORPHA:79106
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Delayed puberty OMIM:616033
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... ORPHA:710
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Abnormal circulating calcium concentration, Basal ganglia calcification, At... OMIM:213600
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ... OMIM:303110
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con... OMIM:619743
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification, Pneumonia ORPHA:85179
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Joint stiffness ORPHA:2398
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Developmental And Epileptic Encephalopathy 63
Overlapping toe, Highly arched eyebrow, Inability to walk, EEG with generalized epileptiform disc... OMIM:617976
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... ORPHA:2771
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Elbow dislocation, Fine hair, Aplasia/Hypoplasia of the middle ear, Clinodactyly of the 5th finge... ORPHA:3236
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, P... ORPHA:93352
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... OMIM:606069
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Widow's peak, Tetralogy of Fallot, Wide nasal bridge, Pectoral muscle... OMIM:136760
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Conductive hearing impairment, Retinal degeneration, Papille... ORPHA:580
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Ataxia, Tr... ORPHA:88628
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Short stature ORPHA:2786
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th... ORPHA:949
Ivic Syndrome
Hearing impairment, Joint stiffness, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, H... ORPHA:2307
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi... OMIM:619248
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Forsythe-Wakeling Syndrome
Growth delay, Osteoporosis, Short stature, Decreased body weight OMIM:613606
Laron Syndrome
Severe short stature, Osteoarthritis, Abnormality of the elbow, Truncal obesity, Delayed puberty,... ORPHA:633
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Osteolysis, Nail dystrophy, Osteo... ORPHA:90154
Diaphanospondylodysostosis
Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert... ORPHA:66637
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154275
Hjv Or Hamp-Related Hemochromatosis
Arthropathy, Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevate... ORPHA:79230
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Hypophosphatemia, Nephrocalcinosis, Aminoa... OMIM:616026
Arteriosclerosis, Severe Juvenile
Short stature, Central retinal vessel vascular tortuosity, Calcification of the aorta, Arterioscl... OMIM:208060
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Conductive hearing impairment, Shor... OMIM:132450
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Long nose, Facial edema, Patellar hypoplasia, Sparse hair, Short p... ORPHA:221016
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Elevated circulating alkaline phosphatase con... ORPHA:329475
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Craniosynostosis, Re... ORPHA:667
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hyper... ORPHA:77296
Branchiooculofacial Syndrome
Proximal placement of thumb, Renal cyst, Premature graying of hair, Clinodactyly of the 5th finge... OMIM:113620
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu... OMIM:135100
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... OMIM:619656
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Spinal cord compression, Abnormal vascular morphology, Knee pain, A... ORPHA:314652
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Hype... ORPHA:73230
Pgm3-Cdg
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Ec... ORPHA:443811
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro... OMIM:234250
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Enlarged joints, Large tarsal bones, Sensorineural hearing impairment, ... OMIM:215150
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Thin bony cortex, Antalgic gait, Short stature, Osteomalacia, ... ORPHA:249
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Myopathy, Scoliosis, Failure to thrive OMIM:618234
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Disproportionate short-limb short stature OMIM:618618
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hai... OMIM:608154
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154276
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Pear-sha... OMIM:602111
Neuropathy, Hereditary Sensory, Type Id
Distal lower limb amyotrophy, Autoamputation of digits, Osteomyelitis, Nail dystrophy OMIM:613708
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Singleton-Merten Syndrome 1
Osteopenia, Waddling gait, Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa ... OMIM:182250
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Anterior uveitis, Abnormality of the cervical spine, Abnormal thoracic spine morpholog... ORPHA:85438
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Clubbing, Knee pain OMIM:614441
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Thoracic hemivertebrae,... ORPHA:1445
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Ventricular septal defect, Recurrent fractures, Metaphyseal widening, Osteoporosis, T... OMIM:259770
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Acne, Inflammatory abno... ORPHA:77297
Maternal Uniparental Disomy Of Chromosome 9
Failure to thrive, Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Intr... ORPHA:96183
Rothmund-Thomson Syndrome
Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Skin rash... ORPHA:2909
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Osteopenia, Inc... OMIM:239000
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Hydroxyprolinuria, Conductive hearing impairment... OMIM:174810
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 2
Prominent fingertip pads, Cholesteatoma OMIM:614113
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Hand muscle weakness, Q... ORPHA:99947
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... ORPHA:163665
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Fusariosis
Myositis, Osteomyelitis, Fasciitis, Abnormal retinal morphology, Sinusitis, Maculopapular exanthe... ORPHA:228119
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ri... OMIM:612089
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Wildervanck Syndrome
Fused cervical vertebrae, Hearing impairment OMIM:314600
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the... OMIM:615632
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Otitis m... ORPHA:581
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Short metatarsal, Protruding ear, Cone-shaped epiphyses of the proxim... OMIM:190350
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Ataxia, Dilatated internal auditory canal, C... ORPHA:1435
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... ORPHA:2438
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Elevated circulating creatine kinase conc... OMIM:616809
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi... ORPHA:2633
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Long nose, Congenital stapes ankylosis, Proximal/... OMIM:184460
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Short neck, Hip dislocation, Hemiverte... OMIM:615583
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor... OMIM:271530
Alpha-Mannosidosis
Inguinal hernia, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal maturation, Mac... ORPHA:61
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri... ORPHA:2848
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Sialidosis Type 2
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Postnatal growth retardation, Inability to walk, Congenital knee dislo... ORPHA:319332
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concentration, Postna... OMIM:227810
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Conductive hearing impai... OMIM:201000
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Scoliosis, Abnormality of the wrist ORPHA:1657
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... OMIM:228600
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Cerebral calcification, Urinary incontinence, Basal ganglia ca... ORPHA:191
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Low-set ears, C... OMIM:616549
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Listeriosis
Stiff neck, Liver abscess, Conjunctivitis, Cholecystitis, Infectious encephalitis, Ataxia, Pyelon... ORPHA:533
Refractory Celiac Disease
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... ORPHA:398063
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Skeletal muscle atrophy, Congenital hip dislocation, Short statur... OMIM:255800
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Hearing impairment, Femoral bowing, Mitral valve p... OMIM:166200
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... ORPHA:2710
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Keratitis, Multifocal epileptiform discha... ORPHA:453510
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Flexion contracture, Patellar hypoplasia, Knee flexion contract... ORPHA:2614
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Delayed skeletal maturation, Flex... OMIM:609628
Wild Type Abeta2M Amyloidosis
Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon... ORPHA:85446
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Marshall Syndrome
Retinal detachment, Cerebral calcification, Sparse eyelashes, Sparse eyebrow, Sensorineural heari... ORPHA:560
Raine Syndrome
Mixed hearing impairment, Hydroureter, Abnormal pinna morphology, Posteriorly rotated ears, Micro... OMIM:259775
Ramon Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Osteolysis, Conductive hea... ORPHA:3019
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, ... ORPHA:52430
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... ORPHA:2088
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Inability to walk, Flexion contracture, Kyphoscoliosis OMIM:617105
Perrault Syndrome 1
Ataxia, Short stature, Osteoporosis, Gait ataxia, Scoliosis OMIM:233400
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Pleural em... ORPHA:449280
Rothmund-Thomson Syndrome Type 1
Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Short sta... ORPHA:221008
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis... OMIM:610968
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Maculopapular exanthema, Wrist swelling, ... ORPHA:448237
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Alopecia, Ataxia, Joint stiffness, Vertigo, Vasculitis, Optic ... ORPHA:397
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Vasculitis, Abnormal sper... ORPHA:228123
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal spinal cord morphology, Bone pain, Unicameral bone cyst, Prox... ORPHA:83468
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Cryptorchidism, Tetr... ORPHA:1166
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... OMIM:122860
Mycetoma
Back pain, Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Prominent... ORPHA:2583
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S... ORPHA:791
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, Distal joint laxity, Ge... ORPHA:1900
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susc... OMIM:146300
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Myositis, Osteomyelitis, Glomerulonephritis, Elevated circulating creatine k... ORPHA:36234
Adamantinoma
Pathologic fracture, Bone pain, Hypercalcemia ORPHA:55881
Glycoprotein Storage Disease
Gout OMIM:232900
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Coxa valga, Abnormal... ORPHA:1425
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Facial hypotonia, Inability to walk, Nephrocalcinosis, Difficulty walking OMIM:611087
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... OMIM:150250
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Palmar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brach... ORPHA:377
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Low-set e... ORPHA:2522
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... ORPHA:1147
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... OMIM:600785
Kniest Dysplasia
Retinal detachment, Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Trac... OMIM:156550
Lateral Meningocele Syndrome
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Ventricular septal defect, Abno... ORPHA:2789
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Kyphoscoliosis, Cervical spondylosis, Vascular granular osmiophilic ma... ORPHA:199354
Metaphyseal Chondrodysplasia, Spahr Type
Hyperlordosis, Disproportionate short stature, Reduced bone mineral density, Gait disturbance, Sc... ORPHA:2501
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Ataxia, Patent ductus arteriosus, Delayed skeletal ma... OMIM:615398
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Kyphoscoliosis, Basal ganglia calcification, Flexio... OMIM:214150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Osteoporosis, Growth de... ORPHA:369
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Elevated circulating alkalin... OMIM:126550
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Low anterior hairline, Atrial septal defect, Conductive hearing impa... OMIM:601808
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chronic mucocuta... OMIM:240300
2Q37 Microdeletion Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Eczema, Congen... ORPHA:1001
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... OMIM:609166
Geroderma Osteodysplastica
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... ORPHA:2078
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Patchy reduction of bone mineral density... ORPHA:221120
Prieto Syndrome
Patellar subluxation, Osteoporosis, Patellar dislocation OMIM:309610
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph... OMIM:614856
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Proteinuria, Hypouricemia, D... ORPHA:411634
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Optic at... OMIM:259710
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Vitritis, Bronchiectasis, Hepatitis, Intracranial... ORPHA:1163
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Stroke, ... ORPHA:320
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... OMIM:607155
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Joint dislocation, Sparse scalp hair, Avascular necrosis of th... ORPHA:502
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Inability to walk, Choreoathetosis OMIM:618497
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocal... ORPHA:36913
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Short stature, Osteoporosis, Increased susceptibility to... ORPHA:2788
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Osteomalacia, Elevated circulating C-reactive protein concentration, Pn... OMIM:619381
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:615559
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... OMIM:620321
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Clinodactyly of the 5th finger, Atresia of t... OMIM:221320
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... ORPHA:3152
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux OMIM:605192
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217085
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Asplenia, Clubbing, ... ORPHA:244
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Synophrys, Protruding ear, Otitis media, Chorioretinal coloboma, Micropeni... OMIM:619475
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... OMIM:212780
Wildervanck Syndrome
Fused cervical vertebrae, Congenital sensorineural hearing impairment, Short neck, Low posterior ... ORPHA:3456
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow move... ORPHA:94068
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis, Osteoporosis, Failure to thrive, Joint hypermobility OMIM:600118
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Osteoporosis ORPHA:2958
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Abnorm... ORPHA:1304
Gaucher Disease, Type Iii
Ataxia, Vascular calcification OMIM:231000
Bor Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... ORPHA:107
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture... OMIM:608654
Camurati-Engelmann Disease
Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Skeletal muscle atrophy,... ORPHA:1328
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Short nose OMIM:616910
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Hypercalcemia, Renal hamartoma, Bone pain, Nephrolithiasis, Renal cyst, Hype... ORPHA:99880
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Arachnodactyly, Eosinophilic ... OMIM:615582
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Foam cells with lamellar inclusion bodies, Short stature, Elevated circu... OMIM:257200
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, ... OMIM:277900
Zechi-Ceide Syndrome
Atrial septal defect, Sandal gap, Thick hair, Short metatarsal, Abnormal earlobe morphology, Wide... ORPHA:217017
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217093
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Abnormal... ORPHA:2796
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Prominent fingertip pads, Patent foramen ovale, Cryptorchidism, Renal hypop... OMIM:618494
Mucopolysaccharidosis, Type Iva
Joint laxity, Waddling gait, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis,... OMIM:253000
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Interstitial cardiac fib... ORPHA:90291
Craniometaphyseal Dysplasia
Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Osteopetrosis, Conductive hear... ORPHA:1522
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Hearing impairment, Short me... OMIM:600383
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Primary Fanconi Renotubular Syndrome
Bone pain, Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... ORPHA:3337
Pseudohypoparathyroidism, Type Ic
Short neck, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Hyperphospha... OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Scapular winging, Small for gestational age, Asymmetry of th... OMIM:617796
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ... ORPHA:3082
Parathyroid Carcinoma
Renal insufficiency, Hypercalcemia, Renal hamartoma, Bone pain, Nephrolithiasis, Renal cyst, Hype... ORPHA:143
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Nephropathy, Vascul... ORPHA:575
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Cinca Syndrome
Papilledema, Skin rash, Elevated circulating C-reactive protein concentration, Lymphedema, Patell... OMIM:607115
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis, ... ORPHA:3409
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Limitation of joint mobility, Cereb... ORPHA:3145
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteomyelitis, Urinary incontinence, Osteolytic defects of the phalange... OMIM:613115
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Renal insufficiency, Hepatomegaly, Abnormal heart valve morpholo... ORPHA:36412
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta... OMIM:620351
Opsismodysplasia
Short palm, Short metacarpal, Posteriorly rotated ears, Rhizomelia, Edema, Polyhydramnios, Metaph... OMIM:258480
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis, Ge... OMIM:619423
Autosomal Dominant Hypocalcemia
Alopecia, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypo... ORPHA:428
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Elevated urinar... ORPHA:94080
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Posteriorly rotated ears, Sandal gap, Short toe, Delayed skeletal maturation, Synophr... OMIM:617877
Colchicine Poisoning
Hyponatremia, Alopecia, Renal insufficiency, Hypomagnesemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Koolen-De Vries Syndrome
Anteverted ears, Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge, Hyperactivi... OMIM:610443
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Wide anterior fontanel, Delayed skeletal maturation, Recurrent o... OMIM:608545
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber... OMIM:125250
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hypoalbuminemia, Shor... OMIM:235510
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Tendon x... ORPHA:391665
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short thumb, Patent duc... OMIM:244300
Menkes Disease
Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f... ORPHA:565
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p... ORPHA:1488
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Scolio... OMIM:613849
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... ORPHA:1842
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Familial Tumoral Calcinosis
Hyperostosis, Calcification of muscles, Bone pain ORPHA:53715
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Endove Syndrome, Limb-Brain Type
Joint laxity, Neurogenic bladder, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Trian... OMIM:619218
Odontochondrodysplasia 1
Biconvex vertebral bodies, Genu recurvatum, Short stature, Osteoporosis, Flat acetabular roof, Co... OMIM:184260
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis, Bone pain OMIM:259680
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Tapered finger, Sensorineural hearing impairment, Optic atrophy, Small hand, Low posterior hairli... OMIM:618672
Smith-Magenis Syndrome
Retinal detachment, Toe syndactyly, Hypertriglyceridemia, Joint stiffness, Synophrys, Abnormality... ORPHA:819
Rhyns Syndrome
Osteopenia, Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney ... OMIM:602152
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Aminoaciduria, Renal Fanconi syndrome, Low-molec... OMIM:219800
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... ORPHA:2790
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Delayed skeletal maturation,... OMIM:614857
Immunodeficiency 27A
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Hepatos... OMIM:209950
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Decreased muscle mass, Facial hypotonia, Highly arched eyebrow, Nephrocalcinosis ORPHA:500533
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal ... ORPHA:666
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal sa... OMIM:601678
Lamb-Shaffer Syndrome
Hyperactivity, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis, Abnormal te... ORPHA:530983
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Ab... ORPHA:96169
Cryptococcosis
Osteomyelitis, Abnormal retinal morphology, Pneumonia, Prostatitis, Peritonitis, Vitritis, Osteol... ORPHA:1546
Congenital Atransferrinemia
Arthritis ORPHA:1195
Autosomal Recessive Robinow Syndrome
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostosis of carpal b... ORPHA:1507
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture ORPHA:85193
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Conductive hearing impairm... ORPHA:740
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cerebral calcification, Posteriorly rotated ears, Facial palsy, W... ORPHA:2780
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Pustule, Hyperkalemia, Atopic dermatitis, Dehydration, Increased cir... ORPHA:171876
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Shwachman-Diamond Syndrome
Osteopenia, Sinusitis, Metaphyseal chondrodysplasia, Metaphyseal widening, Abnormal finger morpho... ORPHA:811
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... OMIM:615923
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Accelerate... ORPHA:562
Proteus-Like Syndrome
Venous insufficiency, Hyperostosis, Genu recurvatum ORPHA:2969
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, D... ORPHA:77259
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinu... ORPHA:1307
19P13.12 Microdeletion Syndrome
Atrial septal defect, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias... ORPHA:254346
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Kbg Syndrome
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Single transverse palmar crease, Short ne... OMIM:148050
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Short stature... OMIM:259600
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Short stature ORPHA:71267
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Abnormal sacrum morphology, L... ORPHA:2591
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Ataxia, Joint stiffness, Hype... OMIM:253010
Osteogenesis Imperfecta, Type Xxii
Short stature, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium con... OMIM:619795
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis, Muscular dystrophy OMIM:204730
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Symphalangism affecting the phal... ORPHA:2990
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Postlingual sensorineural hearing impairment, Increased susceptibi... OMIM:304700
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Osteoporosis
Osteoporosis OMIM:166710
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypospadias, Metatarsus adductus, Sensorineural hearing impairment, Premat... OMIM:611962
Proteus Syndrome
Spinal cord compression, Venous malformation, Mandibular hyperostosis, Calvarial hyperostosis, Fa... OMIM:176920
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis, Recurrent aspiration pneumonia, Ataxia OMIM:619971
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Dela... ORPHA:369837
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem... OMIM:145600
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Coffin-Siris Syndrome 6
Atrial septal defect, Wormian bones, Posteriorly rotated ears, Low-set ears, Conductive hearing i... OMIM:617808
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... ORPHA:284984
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Facial hypotonia, Short stature, Short neck, Osteoporosi... ORPHA:85194
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Treacher Collins Syndrome 4
Conductive hearing impairment, Preauricular hair displacement OMIM:618939
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic... ORPHA:397596
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal... OMIM:128100
Hemophilia A
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage OMIM:306700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Large for gestational age, Synophrys, Low an... OMIM:213980
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... ORPHA:781
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... ORPHA:83451
Pseudohypoparathyroidism, Type Ia
Short neck, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Hyperphospha... OMIM:103580
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Inflammatory abnormality of the skin, Medial calcification of large arteries, Eczema,... ORPHA:391487
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impairment, Inflammatory abnorm... ORPHA:93262
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Cerebral calcification, Hypercalcemia, Achilles tendon calcification, Hyperphosphatem... OMIM:617994
Lesch-Nyhan Syndrome
Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Choreoathetosis, Hyperuricem... OMIM:300322
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short... ORPHA:363417
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Arachnodactyly, Cachexia, Joint stiffness ORPHA:1144
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Hypoammonemia, Dehydration, Protruding ear, Nephrocalcinosis, Oligosacch... ORPHA:534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein conce... OMIM:612852
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Hemivertebra... OMIM:613686
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Spinal cord compression, Flared m... ORPHA:93346
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... OMIM:616726
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur... ORPHA:52368
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes,... OMIM:106260
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Stroke, Hypermet... OMIM:236200
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis,... ORPHA:970
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Acute hepatitis, Back pain, Jaundice, Incre... ORPHA:905
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Optic atrophy, Reduc... ORPHA:561
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentra... ORPHA:1320
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Bone pain, Nephrolithiasis, Renal cyst, Hypercal... ORPHA:18
Richieri Costa-Da Silva Syndrome
Joint dislocation, Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short n... ORPHA:3101
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... OMIM:208085
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis, Osteomyelitis OMIM:239840
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... ORPHA:411629
Pearson Syndrome
Hydrops fetalis, Renal cyst, Dehydration, Abnormality of the liver, Hypocalcemia, Hepatic steatos... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Conductive hearing impairment, Hypospadias, Rhizomelia, Hemolytic-uremic syndrome, Cr... OMIM:611209
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Knee flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Ataxia, Tapered finger, C... ORPHA:488642
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... ORPHA:3287
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... ORPHA:157973
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Rhiniti... OMIM:618063
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Severe short stature, Osteomalacia, Joint stiffness, Abnormal join... ORPHA:1901
Hyperparathyroidism 4
Osteopenia, Nephrolithiasis, Hypercalcemia OMIM:617343
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Kyphosis, Elevated circulating alanine amino... OMIM:615381
Crouzon Syndrome
Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Conductive hearing impairment, N... ORPHA:207
Classic Galactosemia
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Ataxia, Abn... ORPHA:79239
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o... OMIM:184100
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, 2-3... OMIM:608572
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Delayed puberty ORPHA:2410
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Disproportionate short-limb short stature, Scol... OMIM:619131
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Intraven... OMIM:616507
Branchiootorenal Syndrome 1
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... OMIM:113650
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Eunuchoid habitus, ... ORPHA:99330
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Rhizomelia, Simple ear, Cryptorchidism, Flared metaphysis,... OMIM:602471
Ellis Van Creveld Syndrome
Abnormal hair quantity, Micromelia, Abnormal hair morphology, Capitate-hamate fusion, Delayed ske... ORPHA:289
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase conce... ORPHA:529665
Intellectual Disability-Strabismus Syndrome
Hypospadias, Highly arched eyebrow, Short neck, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:363528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Delayed skeletal maturation, Hypercalci... OMIM:614732
Cantu Syndrome
Ovoid vertebral bodies, Large for gestational age, Short neck, Patent ductus arteriosus, Cuboid-s... OMIM:239850
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Urinary incont... ORPHA:101085
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Rocker bottom foot, Short 5th finger, Atresia of the external auditor... OMIM:133705
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Preaxial hand polydactyly, Protruding e... ORPHA:2316
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, Conduc... ORPHA:959
X-Linked Intellectual Disability, Cabezas Type
Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Hyperactivity, Obesity, Joint ... ORPHA:85293
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti... ORPHA:402075
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Otofaciocervical Syndrome
Scapular winging, Delayed skeletal maturation, Protruding ear, Abnormal antihelix morphology, Atr... ORPHA:2792
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Decreased muscle mass, Portal hypertension, Joint stiffness, Increased circulating f... ORPHA:465508
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating creatine ki... OMIM:613327
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor... ORPHA:1979
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Delayed skeletal maturation, Low anterior hairline, Hypercalciuria... OMIM:618440
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Ataxia, Sensorineural hearing impairment, Cardiomyopathy, Abnormal aortic mo... ORPHA:3222
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... OMIM:610967
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis OMIM:608184
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Jaundice, Failure to thrive, Osteoporosis ORPHA:79301
Retinoblastoma
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... ORPHA:790
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Cryptorchidism, Delayed skeletal maturation, Sma... OMIM:241410
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Sensorin... ORPHA:2980
Brittle Cornea Syndrome
Hallux valgus, Retinal detachment, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis... ORPHA:90354
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Autoamputation of digits, Distal lower limb muscle wea... OMIM:613640
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, 2-3 toe syndactyly, Abnormal heart morphology, Small thenar eminence, Microtia, S... OMIM:239800
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Short stature, Osteoporosis, Int... OMIM:309400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Slen... ORPHA:2774
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of the knee, Abnormal circula... ORPHA:333
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Monosomy 18Q
Secundum atrial septal defect, Bilateral cryptorchidism, Low anterior hairline, Choreoathetosis, ... ORPHA:1600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Sterile a... OMIM:604416
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Hiatus h... OMIM:304150
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, Joint co... OMIM:618005
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thick eyebrow, Synophrys, Patent ductus arteriosus after birth at term, Wide nasal ... ORPHA:529962
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Osteoporosis, Elevated circulating ... ORPHA:232
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Highly arched eyebrow, Accelerated skeletal maturatio... OMIM:617190
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thum... OMIM:609053
Marshall Syndrome
Retinal detachment, Radial bowing, Coxa valga, Sensorineural hearing impairment, Knee osteoarthri... OMIM:154780
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Spondyloarthropathy, Susceptibility To, 1
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... OMIM:106300
Caudal Regression Syndrome
Impulsivity, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, H... ORPHA:3027
Christianson Syndrome
Cachexia, Joint hyperflexibility, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex con... ORPHA:85278
Arthrogryposis, Distal, Type 2A
Joint dislocation, Polyhydramnios, Knee flexion contracture, Wrist flexion contracture, Ulnar dev... OMIM:193700
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Distal amyotrophy, Gait disturbanc... ORPHA:139578
Saethre-Chotzen Syndrome
Low anterior hairline, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearing im... ORPHA:794
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Skeletal muscle hypertrophy, Long ear, Hi... OMIM:619714
Progressive Familial Intrahepatic Cholestasis
Delayed skeletal maturation, Hypocalcemia, Reduced bone mineral density ORPHA:172
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... OMIM:619260
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... OMIM:218600
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
2P21 Microdeletion Syndrome
Nephrolithiasis, Long eyelashes, Hypocalcemia, Cystinuria ORPHA:163693
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Cupped ear, Wide nasal bridge, Pr... OMIM:616367
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Hyperkalemia, E... OMIM:620366
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Pyle Disease
Genu valgum, Reduced bone mineral density, Platyspondyly, Scoliosis, Cubitus valgus, Limited elbo... OMIM:265900
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... OMIM:108720
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... OMIM:112250
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost... OMIM:602080
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Inability to walk, Bilateral conductive hearing impairment, Long eyela... OMIM:617802
Fanconi-Like Syndrome
Osteomyelitis OMIM:227850
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammati... ORPHA:39812
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Skin rash, Elevated ... ORPHA:567544
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermob... OMIM:617333
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivi... OMIM:120100
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias... OMIM:259900
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Short stature, Elbow flexion contracture, Osteo... OMIM:616200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Knee osteoarthritis, Genu varum ORPHA:93356
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Intrauterine growth retardation, Elevated circulating alkaline phosphatase concentration, Ataxia OMIM:616917
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Postnatal growth retardation, Osteoporosis, Truncal obe... ORPHA:73272
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Finger syndactyly, Distichiasis, Abnormal hair quantity ORPHA:1997
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Osteoporosis, Short stature OMIM:618625
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Alopecia, Abnormal spinal cord morphology, Sensorineural hearing impair... ORPHA:494
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Gait ataxia, Chorioretinal coloboma, Conductive hearing impairment, Clinodactyl... OMIM:280000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Arthritis, Myopathy, B... ORPHA:397744
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Cerebral calcification, Short stature, Eczema, Ataxia, Postnatal g... OMIM:212750
Erdheim-Chester Disease
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Abnormal pericardium... ORPHA:35687
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Cryptorchidis... ORPHA:1926
Sotos Syndrome
Joint laxity, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Accelera... OMIM:117550
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Abnormal joint morphology, Lim... ORPHA:47612
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis l... OMIM:256810
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Large joint dislocations, Os... ORPHA:536467
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, C... OMIM:615546
Sydenham Chorea
Septic arthritis, Unsteady gait, Endocarditis ORPHA:306731
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Metaphyseal widening, Conductive hearing impairment, Dislocated radi... OMIM:182212
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Failure to thrive, Small for gestational age OMIM:613217
Hemochromatosis, Type 2A
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Dilated cardiomyopathy,... OMIM:602390
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Postnatal growth retardation, Osteoporosis, Hyperhomocystinemia, Lower limb hy... ORPHA:2169
Hypertelorism-Microtia-Facial Clefting Syndrome
Thenar muscle atrophy, Horseshoe kidney, Microtia, Atresia of the external auditory canal, Conduc... ORPHA:2213
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Prominent superficial veins, Short stature, Limited elbow movement, Joint s... OMIM:614008
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Ataxia, Eczema, Allergic rhinitis, Sensorineural hearin... OMIM:615816
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de... OMIM:166220
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,... ORPHA:2878
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Tracheomalacia, Retinal telangiectasia,... OMIM:620155
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Patent ductus arteriosus, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Analbuminemia
Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... OMIM:616000
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... OMIM:241200
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Short stature, Neonatal epiphyseal ... OMIM:101800
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Inguinal hernia, Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, ... OMIM:227330
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Kyphosis, Abnormal spinal cord morp... ORPHA:1724
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth retardation, Abnormality of... ORPHA:85410
Radio-Tartaglia Syndrome
Brachydactyly, Thick eyebrow, Ventricular septal defect, Ataxia, Highly arched eyebrow, Tapered f... OMIM:619312
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... OMIM:617137
Hemifacial Microsomia With Radial Defects
Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive hearing impairm... OMIM:141400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Short stature, Hyperlordosis, Irregular carpal bones, Hypoplasia of the odontoid process, Osteopo... OMIM:226980
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Growth delay, Camptodacty... OMIM:616006
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, External ear malfor... ORPHA:2136
Glycosylphosphatidylinositol Biosynthesis Defect 25
Short stature, Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Otitis media, Conductive hearing impairment, Pate... ORPHA:576
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Cryptorchidism, Sensorineura... ORPHA:1131
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Wormian bones, Ventricular septal defect, Tapered finger, Cryptorchidism, Pa... OMIM:617159
Propionic Acidemia
Short stature, Eczema, Cerebellar hemorrhage, Osteoporosis, Hyperammonemia, Hyperglycinemia, Prop... OMIM:606054
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Synophrys... ORPHA:536545
Stickler Syndrome
Joint dislocation, Retinal detachment, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabu... ORPHA:828
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Co... ORPHA:391641
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Reynolds Syndrome
Calcinosis, Elevated hepatic transaminase, Erythema nodosum, Calcinosis cutis, Jaundice, Elevated... OMIM:613471
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Sensorineural hearing i... ORPHA:1215
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, Panuve... OMIM:301081
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Calcinosis cutis, ... ORPHA:416
Hemophilia B
Osteoarthritis, Joint hemorrhage OMIM:306900
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... ORPHA:284169
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspondyly ORPHA:296
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Tracheomala... OMIM:601390
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Short toe, 2-3 toe syndactyly,... OMIM:139210
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Patchy osteosclerosis, External ear malfo... ORPHA:2323
Hemochromatosis, Type 1
Arthropathy, Elevated hepatic transaminase, Increased circulating ferritin concentration, Osteopo... OMIM:235200
Erythrokeratodermia Variabilis
Alopecia, Hearing impairment, Tapered finger, Abnormal hair morphology, Patchy palmoplantar hyper... ORPHA:317
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Craniometadiaphyseal Dysplasia
Osteopenia, Short stature, Genu valgum, Sclerosis of skull base, Elevated circulating alkaline ph... OMIM:269300
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Spondylolisthesis, Abdominal aor... OMIM:613795
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Patent ductus arteriosus, Limitation of joint mob... OMIM:259100
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Narrow internal auditory canal,... ORPHA:233
Cranioectodermal Dysplasia
Joint hyperflexibility, Rhizomelia, Osteoporosis, Craniosynostosis ORPHA:1515
Pulmonary Blastoma
Weight loss ORPHA:64741
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Multiple joint dislocation, Knee disloca... OMIM:245600
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Congenital di... ORPHA:261197
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Proteinuria, Elevated urinary norepi... ORPHA:276621
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Wormian bones, Rhizomelia, Recurrent fra... OMIM:616229
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Cervical cord compression, Short palm, Joint laxity, Lumbar hyperl... OMIM:607095
Autosomal Recessive Kenny-Caffey Syndrome
Delayed skeletal maturation, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Decreased ... ORPHA:93324
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:614300
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cer... ORPHA:904
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... ORPHA:2176
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Autoamputation of digits, Osteomyelitis, Neuropathic arthropathy, Keratitis, A... OMIM:256800
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, D... OMIM:257920
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss ORPHA:100024
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... ORPHA:3429
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... OMIM:100800
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Arnold-Chiari Malformation Type I
Stiff neck, Areflexia of upper limbs, Myelopathy, Fused cervical vertebrae, Syringomyelia, Adult ... ORPHA:268882
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Brachydactyly, Cryptorchidism, Sensorineural hearing impairment, Clinod... OMIM:616331
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Alopecia totalis, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:1234
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t... ORPHA:198
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Increased susceptibility to fractures, Tip-toe gait, Gait disturbance, Abnorma... ORPHA:216866
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
Familial Cold Urticaria
Arthritis, Sensorineural hearing impairment, Conjunctivitis, Dehydration ORPHA:47045
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Sparse scalp hair, Broad eyebrow, Short metacarpal, Thoracolumbar ky... OMIM:618853
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Down Syndrome
Joint laxity, Sandal gap, Aganglionic megacolon, Macroglossia, Gait disturbance, Clinodactyly of ... ORPHA:870
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Toe syndactyly, Bilobat... OMIM:607330
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Pontocerebellar Hypoplasia, Type 2E
Short stature, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive OMIM:615851
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... OMIM:225500
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Aredyld Syndrome
Low-set, posteriorly rotated ears, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abno... ORPHA:1133
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Finger clinodactyly, Pulmonary arter... ORPHA:1692
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cachexia, Kyphosis, Synophrys, Protruding ear, Scoliosis, Macr... ORPHA:2471
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus, Low anterior hairline, Coarse hair, Abnormal metacarpal morphology, Con... ORPHA:2095
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Sturge-Weber Syndrome
Hyperostosis, Cerebral calcification, Stroke, Abnormal cerebral vascular morphology ORPHA:3205
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthrit... ORPHA:342
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Syndactyly, Highly arched eyebrow, Synophrys, Wide nasal bridge, Coxa vara, 2-3... OMIM:614701
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Hallux valgus, Thick eyebrow, Abnormal heart valve morphology, Genu recurvatum... ORPHA:230851
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Ventricular septal defect, Recurrent skin infections, Joint stif... OMIM:620210
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Wrist fl... ORPHA:800
Pseudopseudohypoparathyroidism
Osteoporosis, Obesity, Short stature, Short neck OMIM:612463
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low posterior hairline, Fused cervical vertebrae, Attention deficit hyperactivity disorder, Low-s... OMIM:619227
Werner Syndrome
Low back pain, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating... OMIM:277700
Chromosome 1P36 Deletion Syndrome, Proximal
Broad eyebrow, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Comple... OMIM:619343
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Osteoporosis, Hip dislocation, Growth delay, Intrauterine growth retardation, Hip... ORPHA:447980
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Acute pancreatitis, Pericarditis, Cerebral calcification, Chilblai... OMIM:619487
Larsen Syndrome
Finger syndactyly, Brachydactyly, Short nail, Large joint dislocations, Craniosynostosis, Cryptor... ORPHA:503
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Hypospadias, Ataxia, Tracheomalacia, Lymphedema, Wide nasal bridge, Renal... ORPHA:314679
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration... ORPHA:239
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia, Ventricular septal defect ORPHA:398156
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Arterial dissection, Elbow dislocation, Decreased nerve conduction velocity, V... ORPHA:285
Oculodentodigital Dysplasia
Atrial septal defect, Neurogenic bladder, Dry hair, Abnormal pinna morphology, Slow-growing hair,... OMIM:164200
Craniometaphyseal Dysplasia, Autosomal Dominant
Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull b... OMIM:123000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Low posterior hairline, Long e... OMIM:617523
Cornelia De Lange Syndrome 1
Micromelia, Ectopic kidney, Proximal placement of thumb, Congenital diaphragmatic hernia, Synophr... OMIM:122470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Synophrys, Aspiration pneumonia, Vesicoureteral reflux, Conductive hearing impairment, Patent for... ORPHA:444077
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Protruding ear, Conductive hearing impairme... ORPHA:2322
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Patent ductus arteriosus, Osteoporosis, Growth delay, Esop... OMIM:612562
Undifferentiated Pleomorphic Sarcoma
Abnormality of the upper limb, Anorexia, Weight loss ORPHA:2023
Fanconi Anemia, Complementation Group F
Atrial septal defect, Pneumonia, Polyhydramnios, Absent thumb, Short thumb, Patent ductus arterio... OMIM:603467
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Bicuspid aortic valve, Protruding ear, Abnormal optic nerve morphology, Atrial septal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Bicuspid aortic valve, Protruding ear, Abnormal optic nerve morphology, Atrial septal... ORPHA:352665
Juvenile Paget Disease
Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse met... ORPHA:2801
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Prominent superficial veins, Anomalous branches of internal carotid art... ORPHA:363705
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Biconcave vertebral bodies, Wormian bones, V... OMIM:617952
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, External ear malf... ORPHA:251071
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis, Spastic gait ORPHA:320365
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis ORPHA:375
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Hypokalemia, Biconca... OMIM:219090
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Absent sp... OMIM:601344
Pseudoxanthoma Elasticum
Cerebral calcification, Abnormal cerebral vascular morphology, Arterial stenosis, Nephrocalcinosi... ORPHA:758
Kabuki Syndrome 2
Joint laxity, Atrial septal defect, Prominent fingertip pads, Brachydactyly, Highly arched eyebro... OMIM:300867
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Absent brainstem auditory responses, Renal insufficiency, Hepatome... ORPHA:90321
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Ataxia, Sensorineural hearing impairment, Gout, Hyperuricosuri... ORPHA:411543
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:565612
Gaisböck Syndrome
Hypertriglyceridemia, Peripheral arterial stenosis, Gout, Nephrocalcinosis, Hypernatriuria, Hyper... ORPHA:90041
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Joint swelling, Polyarti... OMIM:180300
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Dehydration, Nephriti... ORPHA:2552
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Generalized hirsutism, Hyperlordosis, Abnormal diaphysis m... ORPHA:354
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Adult-Onset Still Disease
Elevated hepatic transaminase, Pericarditis, Skin rash, Elevated circulating C-reactive protein c... ORPHA:829
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Metaphyseal widening, Coxa vara, Genu valgum,... OMIM:250420
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Conductive hearing impairment, Abnormality of the wrist, Elb... ORPHA:95699
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Rabson-Mendenhall Syndrome
Thick hair, Delayed skeletal maturation, Long penis, Low anterior hairline, Premature graying of ... ORPHA:769
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Conductive ... ORPHA:1606
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Joint swelling, Inf... ORPHA:29207
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Abnormal toe morphology, Abnormal carpal ... OMIM:216100
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... OMIM:209010
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Skeletal muscle atrophy, Posteriorly rotated ears, Ar... ORPHA:2215
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Long ey... OMIM:615502
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Dilation of V... OMIM:300998
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Mixed hearing impairment, Facial palsy, Flared metaphysis, Optic atrophy, ... OMIM:218400
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Irregular os... OMIM:109400
Seckel Syndrome
Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Del... ORPHA:808
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Absent ... OMIM:154400
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Hypocalcemia, Atrial septal defect, Vesicoureter... ORPHA:567
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Short femur, Mesoaxial hand polydactyly,... OMIM:277170
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Sandal g... OMIM:618885
Hajdu-Cheney Syndrome
Osteopenia, Synophrys, Renal cyst, Conductive hearing impairment, Dislocated radial head, Joint l... OMIM:102500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Sh... OMIM:616801
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility ORPHA:2582
Distal Deletion 19P
Low-set, posteriorly rotated ears, Long toe, Alopecia, Ventricular septal defect, Arachnodactyly,... ORPHA:96129
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Posteriorly rotated ears, Aortopulmonary collateral arteries, Sanda... OMIM:617557
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Conductive hearing impairment, Sparse body hair, Aplasi... ORPHA:1006
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Stenosis of the external audi... OMIM:619699
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth, Ataxia ORPHA:1861
Lowry-Maclean Syndrome
Osteopenia, Congenital diaphragmatic hernia, Craniosynostosis, Osteoporosis, Coarctation of aorta... ORPHA:2409
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebral calcification, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Pat... OMIM:620024
Moderate Hemophilia A
Arthropathy, Hip contracture, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorr... ORPHA:169805
Fg Syndrome Type 1
Generalized joint laxity, Atrial septal defect, Finger syndactyly, Hypospadias, Cryptorchidism, C... ORPHA:93932
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Vasculitis, Skin rash ORPHA:37748
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... OMIM:271520
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Ataxia, Low alkaline phosphatase OMIM:618879
Seckel Syndrome 7
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Micro... OMIM:614851
Huntington Disease-Like 1
Abnormal posturing, Gait disturbance, Dysmetria, Gait ataxia ORPHA:157941
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de... OMIM:136140
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Prominent superficial veins, Flexion contracture, Osteoporosis, Elbow flexion contrac... OMIM:614438
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Brachycephaly, Trichomegaly, And Developmental Delay
Prominent fingertip pads, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set... OMIM:617412
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Reduced b... ORPHA:79474
Hypophosphatasia
Recurrent fractures, Hypercalcemia, Craniosynostosis ORPHA:436
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Low-set, posteriorly rotated ears, Hip contracture, Arachnodactyly, Cachexia, Short neck, Small h... ORPHA:371364
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Palmoplantar keratoderma, Clubbing of toes, Dysphagia ORPHA:2198
Acrocardiofacial Syndrome
Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cry... ORPHA:2008
Familial Isolated Hypoparathyroidism
Nephropathy, Cerebral calcification, Myopathy, Hypocalcemia ORPHA:2238
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... ORPHA:263501
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Protruding ear, Periodontitis, Alo... ORPHA:286
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Abnormal form of the vertebral bodies, Conductive hearing impair... OMIM:194190
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Osteopor... OMIM:612199
Immunodeficiency 21
Osteomyelitis OMIM:614172
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia ORPHA:319552
Bile Acid Conjugation Defect 1
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... OMIM:619232
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis, Genu valgum OMIM:614880
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity OMIM:219080
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia ORPHA:99772
Polymyositis
Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... ORPHA:732
Macs Syndrome
Joint laxity, Dilation of Virchow-Robin spaces, Short stature, Osteoporosis, Bronchiectasis, Recu... OMIM:613075
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Arthritis, Muscular edema ORPHA:3165
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contracture, Hip disloca... OMIM:618947
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Osteopathia striata, Craniofacial osteosclerosis, Atrial septal defect, Clinodact... OMIM:300373
Cerebrotendinous Xanthomatosis
Osteopenia, Precocious atherosclerosis, Abnormal tibia morphology, Abnormal finger morphology, Ab... ORPHA:909
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Proteinuria, Elevated urinary norepi... ORPHA:29072
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Generalized hirsutism ORPHA:2218
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection, S... OMIM:619825
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle... ORPHA:261243
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Sparse eyelashes, Unilateral cryptorchidism, Microtia, Atresia of the external auditory canal, Co... OMIM:300946
Agnathia-Otocephaly Complex
Tracheomalacia, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Low-set ea... OMIM:202650
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Elevated circulating alkaline phosphatase concentration, Increased total bilirubin OMIM:174050
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Alopecia, Vertigo, Hepatitis, Scler... ORPHA:728
Down Syndrome
Short palm, Atrial septal defect, Conductive hearing impairment, Atrioventricular canal defect, P... OMIM:190685
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Flexion contrac... OMIM:154700
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism OMIM:612526
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb... OMIM:263750
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Decreased muscle mass, Short stature, Hyperlipidemia, Osteoporosis... OMIM:232200
Crouzon Syndrome
Sagittal craniosynostosis, Keratitis, Optic atrophy, Conjunctivitis, Atresia of the external audi... OMIM:123500
Peroxisome Biogenesis Disorder 3B
Ataxia, Osteoporosis, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Fail... OMIM:266510
Hennekam-Beemer Syndrome
Camptodactyly of finger, Pneumonia, Long nose, Optic atrophy, Wide nasal bridge, Microtia, Clinod... ORPHA:2135
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... OMIM:610536
Werner Syndrome
Skeletal muscle atrophy, Increased bone mineral density, Short stature, Abnormal cerebral vascula... ORPHA:902
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Vesicoureteral reflux, Thicken... ORPHA:261494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Intrauterine g... OMIM:617056
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Hyperhomocystinemia, Septic arthritis, Hearing impairment OMIM:617780
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:79240
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Protrusio ... ORPHA:558
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Cerebral calcification, Ataxia, Kyphosis, Increased skull ossification,... OMIM:618476
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Azoospermia, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Short stature, ... OMIM:309583
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap... OMIM:600987
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Palpebral edema, Optic nerve hypop... ORPHA:221139
Nasu-Hakola Disease
Bone cyst, Bone pain, Limitation of joint mobility, Reduced bone mineral density, Abnormal adipos... ORPHA:2770
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Curly eyelashes, Sensorineural hearing impairment,... OMIM:301022
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Congenital diaphragmatic herni... OMIM:614294
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Cerebral calcification, Osteomalacia, Flexion contracture, O... ORPHA:2671
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kid... OMIM:613309
Brachytelephalangic Chondrodysplasia Punctata
Laryngeal calcification, Cervical kyphosis, Tracheal calcification, Hypoplastic cervical vertebra... ORPHA:79345
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Elevated hepatic transaminase, Thoracic scoliosis, Multiple joint contractures, Short... ORPHA:2959
Short Stature, Brussels Type
Growth delay, Delayed epiphyseal ossification, Short stature, Calcification of cartilage ORPHA:2867
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Short femur, Polyhydramnios, Sensorineural hearing impairment, Patent d... OMIM:300990
Perrault Syndrome 4
Cubitus valgus, Osteoporosis, Obesity, Gait ataxia OMIM:615300
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Portal hypertension, Osteoporosis, Osteolysis, Weight loss, Elevated cir... ORPHA:98850
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Three M Syndrome 1
Joint dislocation, Scapular winging, Small for gestational age, Short stature, Hyperlordosis, Pos... OMIM:273750
Melioidosis
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... ORPHA:31202
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:232800
Codas Syndrome
Atrial septal defect, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Sh... OMIM:600373
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation OMIM:245650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Tuberculosis
Weight loss ORPHA:3389
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Vesicoureteral refl... OMIM:194050
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Abnormal muscle fi... ORPHA:79102
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur... ORPHA:411536
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... OMIM:608257
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp... OMIM:113500
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... ORPHA:373
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Skin rash, Eczema, Elevated c... OMIM:615688
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration OMIM:616414
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Posteriorly rotated ears, Arachnodactyly, Camptodactyly of ... ORPHA:2462
Acromegaly
Acne, Dysuria, Macrodactyly, Tapered finger, Palpebral edema, Osteoarthritis, Wide penis, Long pe... ORPHA:963
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Myoglobinuria, Abnormality of masseter mus... ORPHA:423
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge... OMIM:151050
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae, Multiple small vertebral fractures, Short stature, Platyspondyly OMIM:156510
Pfapa Syndrome
Arthritis, Infectious encephalitis, Weight loss ORPHA:42642
Complement Factor I Deficiency
Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, R... OMIM:610984
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, Joint stiffness, Abnormal thumb morphology, Se... ORPHA:3242
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Small for gestational ag... OMIM:201750
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma OMIM:180200
Cockayne Syndrome A
Dry hair, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Sparse hair,... OMIM:216400
Hypotonia-Cystinuria Syndrome
Facial palsy, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria, Long eyelashes, Hypocalcemia... OMIM:606407
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Otitis media, Atrial septal defect, Vesicoureteral reflux, Conductive hear... ORPHA:353281
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Wide anterior fontanel, Patent ductus arteriosus, Synoph... OMIM:606003
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Retinal atrophy, Cerebral calcification, Abnormal retinal morphology, Elevated circ... ORPHA:2785
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Ataxia, Edema, Optic atrophy, Dysmetria, Abnormal heart mo... ORPHA:93400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:264580
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Absent thumb, Abnormality of the humerus, Joint sti... ORPHA:392
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Pneumonia, Abnor... ORPHA:2298
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Protruding ear, Tapere... OMIM:613458
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Preax... ORPHA:1297
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... OMIM:109120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Sta... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Ataxia, Elevated circulating alkaline phosphatase concentration, H... OMIM:613489
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... ORPHA:1225
Ring Chromosome 10 Syndrome
Short neck, Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis OMIM:610475
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... OMIM:278000
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Increased circulating lactate dehydrogenase concentration, S... OMIM:614866
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Ataxia, Rickets OMIM:560000
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence, Gait ataxia, Titubation, Gait disturbance, Abnormal posturing, Hypomimic face ORPHA:225147
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormal circulating lipi... ORPHA:206572
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Overlapping toe, Severe periodontitis, Palpebral edema, Ataxia, Keratitis, Recurren... ORPHA:99843
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hypo... OMIM:229600
Marshall-Smith Syndrome
Brittle hair, Large sternal ossification centers, Accelerated skeletal maturation, Bilateral cryp... OMIM:602535
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilir... OMIM:211600
Microcephalic Primordial Dwarfism, Dauber Type
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Obesity, Bilateral b... ORPHA:319675
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Leukocyte Adhesion Deficiency
Osteomyelitis, Sinusitis, Glomerulonephritis, Severe periodontitis, Pneumonia, Hemolytic-uremic s... ORPHA:2968
Trisomy 10P
Thumb contracture, Wide cranial sutures, Decreased muscle mass, Posteriorly rotated ears, Absent ... ORPHA:171929
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Nocardiosis
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Liver abscess, Keratitis... ORPHA:31204
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Cutaneous angiolipomas, Abnormal spinal cord morphology, Bone pain, Abnormality o... ORPHA:53721
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Mixed hearing impairment, Ataxia, Pneumonia, Oligosacchariduria, H... ORPHA:309288
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Rhizomelia, Craniosynostosis, Clinodactyly, Delayed skeletal maturatio... OMIM:614114
Hyperzincemia With Functional Zinc Depletion
Skin rash, Increased serum zinc, Vasculitis, Osteoporosis OMIM:601979
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Prominent superficial veins, Recurrent fractures, Hyperextensibility of the kn... OMIM:601812
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Proteus Syndrome
Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Craniosynostosis, Metatars... ORPHA:744
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Unsteady ga... OMIM:619405
Indolent Systemic Mastocytosis
Skin rash, Elevated total serum tryptase, Osteoporosis, Maculopapular exanthema ORPHA:98848
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney di... ORPHA:284426
Hereditary Xanthinuria
Arthropathy, Reduced xanthine dehydrogenase level, Hypouricemia, Sulfite oxidase deficiency, Hype... ORPHA:3467
Floating-Harbor Syndrome
Broad-based gait, Enlarged joints, Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Avasc... ORPHA:2044
Diencephalic Syndrome
Large hands, Macrotia, Cachexia, Decreased body weight ORPHA:1672
Xp21 Deletion Syndrome
Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase c... ORPHA:261476
Native American Myopathy
Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Cryptorchidism, Abnormality of skele... ORPHA:168572
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes... OMIM:244460
Cleidocranial Dysplasia
Sinusitis, Wormian bones, Recurrent fractures, Short stature, Abnormal sacrum morphology, Osteopo... ORPHA:1452
Flynn-Aird Syndrome
Alopecia, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Progressive sensorineural hearing impai... ORPHA:2047
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Uroli... OMIM:300661
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Retinal dystrophy, Ankle flexion contracture, Elbow flexion contracture... OMIM:618175
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Patent f... ORPHA:17
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Abnormal optic nerve morphology, P... ORPHA:90340
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Absent outer dynein arms, Asplenia, Bronchiectasis, Chronic rh... OMIM:244400
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Accelerated skeletal maturat... ORPHA:116
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short stature, Ovoid vertebral bodies, Short neck, Thickened cortex of long bone... OMIM:601559
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaundice, Elevated ... OMIM:214900
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Sym... ORPHA:46627
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Mixed hearing impairment, Posteriorly rotate... ORPHA:97360
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Ataxia, Highly arched eyebr... ORPHA:2754
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Arthritis, Vasculitis, Hyperostosis ORPHA:906
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Rhizomelia, Patent du... OMIM:618162
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... OMIM:304120
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea... ORPHA:87
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Intestinal Dysmotility Syndrome
Failure to thrive, Low-set ears, Weight loss OMIM:620045
Somatomammotropinoma
Palpebral edema, Dysuria, Macrodactyly, Tapered finger, Osteoarthritis, Synophrys, Joint swelling... ORPHA:314769
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, Weight loss, Distal upper lim... ORPHA:98897
Cerebrotendinous Xanthomatosis
Ataxia, Tendon xanthomatosis, Osteoporosis, Ankle clonus, Abnormal circulating cholesterol concen... OMIM:213700
Noonan Syndrome 2
Curly hair, Abnormal coronary artery origin, Posteriorly rotated ears, Mitral stenosis, Ventricul... OMIM:605275
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Abnorm... OMIM:186580
Classical Ehlers-Danlos Syndrome
Osteopenia, Orthostatic hypotension, Arterial dissection, Phalangeal dislocation, Osteoarthritis,... ORPHA:287
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Foot osteomyelitis, Decreased circulating apolipoprote... OMIM:256840
Alexander Disease Type I
Cachexia, Failure to thrive, Scoliosis, Dysphagia ORPHA:363717
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... OMIM:618150
Behçet Disease
Myositis, Avascular necrosis, Infectious encephalitis, Acne, Ataxia, Retrobulbar optic neuritis, ... ORPHA:117
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Sensorineural hearin... ORPHA:3163
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Bicoronal sy... OMIM:619718
Rat-Bite Fever
Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Developmental And Epileptic Encephalopathy 95
Joint laxity, Multiple joint contractures, Ataxia, Inability to walk, Low alkaline phosphatase, M... OMIM:618143
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertr... ORPHA:412
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Recurrent... ORPHA:251004
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, Atrial septal defect, Thickened helices, Conduc... OMIM:607872
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Short stature... OMIM:309000
Mohr Syndrome
Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys... OMIM:252100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Wid... ORPHA:306542
Distal Deletion 12Q
Ectopic kidney, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clin... ORPHA:96149
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Short stature, Recurrent fractures, Camptodactyly of finger, Flexion c... ORPHA:3206
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Painless fractures due... ORPHA:642
Aicardi Syndrome
Block vertebrae, Hiatus hernia, Small hand, Protruding ear, Multiple lipomas, Hip dysplasia, Scol... ORPHA:50
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic ... OMIM:607765
Immunodeficiency 12
Skin rash, Short stature, Osteoporosis, Cheilitis, Bronchiectasis, Growth delay, Recurrent aphtho... OMIM:615468
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... OMIM:614921
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Tracheomalacia, Hydro... ORPHA:268249
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Pulmonary edema, Fair hair, Hepatomegaly, Edema, C... ORPHA:79330
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Campomelic Dysplasia
Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem... OMIM:114290
Frank-Ter Haar Syndrome
Osteopenia, Cortical irregularity, Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis... OMIM:249420
Severe Hemophilia A
Epidural hemorrhage, Limb joint contracture, Limitation of joint mobility, Subdural hemorrhage, S... ORPHA:169802
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Vici Syndrome
Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al... OMIM:242840
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Joint stiffness, Abnormal aortic morphology, Truncus arteriosus, Short... ORPHA:2516
Chops Syndrome
Curly hair, Thick hair, Thickened helices, Hearing impairment, Synophrys, Obesity, Coarse hair, L... OMIM:616368
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, Osteoporosis, Chronic hepa... ORPHA:231226
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Muscular ... OMIM:615426
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Hajdu-Cheney Syndrome
Osteopenia, Failure to thrive, Short stature, Recurrent fractures, Short neck, Hypoplastic 5th lu... ORPHA:955
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Cockayne Syndrome B
Dry hair, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Sparse hair,... OMIM:133540
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus, Carotid paraganglioma OMIM:168000
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Hepatomegaly, Osteomyelitis, Eczema, Splenomegaly, Bronchiec... OMIM:614162
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, Protruding ear, Clinodactyly of the 5th f... OMIM:268305
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... ORPHA:2756
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch, Horseshoe kidney, ... OMIM:614846
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Failure to thrive in infancy, Short stature, Kyphosis, Osteopo... OMIM:176270
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Bilateral cryptorchidism, Sensorineural hear... OMIM:300472
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal number of hair whorls, Mitral atresia, Clinodactyly, Patent ductus arteriosus, Optic atr... OMIM:618164
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Coarctation of aorta, Long eyelashes OMIM:616069
Turnpenny-Fry Syndrome
Polyhydramnios, Prominent interphalangeal joints, Atrial septal defect, Conductive hearing impair... OMIM:618371
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Clinodac... OMIM:618454
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Flexion cont... OMIM:617591
Thakker-Donnai Syndrome
Posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical C2... ORPHA:1780
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransp... OMIM:306955
Arterial Tortuosity Syndrome
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary artery stenosis, Dilated car... ORPHA:3342
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Alport Syndrome
Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Renal glomerular foam cells, ... ORPHA:63
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, 2-3 toe syndactyly, Bilateral talipes equi... OMIM:618186
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Patent ductus arteriosus, Cuboid-shaped vertebral bodies, Ost... ORPHA:1517
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Osteoporosis, Gout, Inflammation of... OMIM:232220
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Ataxia OMIM:616881
Epidermal Nevus Syndrome
Osteopenia, Rhabdomyosarcoma, Spinal cord compression, Atrophy of the spinal cord, Weakness of lo... ORPHA:35125
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Spondylolisthesis, Abdominal aortic aneurysm, Joint laxity, E... OMIM:610168
Degcags Syndrome
Osteopenia, Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematu... OMIM:619488
15Q11.2 Microdeletion Syndrome
Abnormal pinna morphology, Ventricular septal defect, Ataxia, Abnormal heart morphology, Coarctat... ORPHA:261183
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration OMIM:607748
Cerebrocostomandibular Syndrome
Atrial septal defect, Short humerus, Congenital hip dislocation, Ventricular septal defect, Poste... OMIM:117650
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Scarring alopecia of scalp, Prelingu... ORPHA:477
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Atrial septal defect, Severe sensorineural hearing impairment, Conductive hearing... OMIM:620186
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Hiatus hernia, Spina bifida, Hemivertebrae, Scolios... OMIM:304050
Noonan Syndrome 1
Brachydactyly, Ventricular septal defect, Hypospadias, Lymphedema, Woolly hair, Sensorineural hea... OMIM:163950
Schinzel-Giedion Syndrome
Renal cyst, Tibial bowing, Hepatoblastoma, Micropenis, Hypospadias, Wide anterior fontanel, Hypsa... ORPHA:798
Riddle Syndrome
Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Intraventricular hemorrh... ORPHA:420741
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Mucopolysaccharidosis Type 4
Joint dislocation, Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Gen... ORPHA:582
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Delayed skeletal maturation, Epididymitis, Prostatit... OMIM:307200
Lesch-Nyhan Syndrome
Hyperuricemia, Gout ORPHA:510
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Hearing impa... ORPHA:217346
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Wide nas... ORPHA:3440
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Prominent metopic ridge, Diastasis recti, Eczema, Short neck, Inability ... ORPHA:488632
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Large for gestational age, Abnormal circulating fatty-acid concent... ORPHA:263455
Meier-Gorlin Syndrome 6
Posteriorly rotated ears, Sandal gap, Cryptorchidism, Delayed skeletal maturation, Patellar aplas... OMIM:616835
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair... OMIM:612289
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Pneumonia, Ectopic kidney, Short metatarsal, Optic atrophy, Wide na... OMIM:613328
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Patent ductus ... OMIM:614576
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Elevated 8-dehydrocholester... OMIM:302960
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Hyp... OMIM:118450
Estrogen Resistance Syndrome
Osteopenia, Acne, Elevated tissue non-specific alkaline phosphatase, Delayed epiphyseal ossificat... ORPHA:785
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Atrial septal defect, Diaphragmatic eventration, Pulmonary arter... OMIM:601186
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, Abno... ORPHA:101028
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, Recurrent pneumonia, Bronchiectasi... OMIM:614700
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Aplasia/H... ORPHA:2306
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Bilateral conductive hearing impairment, Short hallux OMIM:216300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Coarse hair, Atrial septal defect, Sparse hair, Thickened helices, Patent foramen... OMIM:617506
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Renal insufficiency, Pericarditis, Sinusitis, Skin... ORPHA:727
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Short stature, Anomalous origin of left coronary artery from the pulmonary artery, Os... ORPHA:2326
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Prominent veins on trunk, Abnormal vena cava ... ORPHA:97289
You-Hoover-Fong Syndrome
Brachydactyly, Ataxia, Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Hea... OMIM:616954
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... OMIM:609136
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Increased body weight, Ab... ORPHA:398069
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia, Generalized hirsutism ORPHA:1563
Fabry Disease
Lymphedema, Abnormal femur morphology, Reduced bone mineral density, Nephropathy, Vertigo, Nephro... ORPHA:324
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Generalized... ORPHA:1596
Cystic Echinococcosis
Elevated hepatic transaminase, Jaundice, Bone cyst, Weight loss, Membranous nephropathy, Elevated... ORPHA:400
Dietary Iron Overload Disease
Viral hepatitis, Increased circulating ferritin concentration, Elevated transferrin saturation, P... ORPHA:139507
Beta-Thalassemia Intermedia
Osteopenia, Jaundice, Osteoporosis, Increased susceptibility to fractures, Reduced bone mineral d... ORPHA:231222
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis ORPHA:2058
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Peritonitis, Limitation of joint mobility, Vasculitis, Growth delay, Arthritis, Recurrent... ORPHA:343
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Venous malforma... ORPHA:79093
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia, Sensorineural hearing impairment ORPHA:2574
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Protruding ea... ORPHA:2751
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Elevated hepatic transaminase, Cerebral calcification, Small for gestat... OMIM:613658
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Cryptorchidism, Synophrys, Conot... ORPHA:96147
Classic Homocystinuria
Elevated hepatic transaminase, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu... ORPHA:394
Sotos Syndrome
Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Pedal edema, Atrial s... ORPHA:821
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Posteriorly rotated ears, Dextrocardia, Supernumerary nipple, Cryptorchidism, Synophrys, Coarctat... OMIM:618929
Lacrimoauriculodentodigital Syndrome
Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal digit morphology, Synd... ORPHA:2363
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Ovoid vertebral bodies, Delayed skeletal maturation, Nephrocalcinosis, Irreg... OMIM:260400
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Facial... ORPHA:254892
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Sy... ORPHA:199
Eiken Syndrome
Short stature, Delayed epiphyseal ossification, Flat acetabular roof, Elevated circulating alkali... OMIM:600002
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent joint dislocation, Short stature, Recurrent fractures, Reduced bone mineral density, Sc... OMIM:619115
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Renal insufficiency, Myositis, Proteinuria, Abnormal pericardium... ORPHA:183
Cryoglobulinemic Vasculitis
Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Vasculitis, Hematu... ORPHA:91138
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Truncal obesity, Osteoporosis, Kyphosis OMIM:610489
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... ORPHA:314585
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect, Tracheomalacia, ... ORPHA:1393
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Otitis media, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Otitis media, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353277
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Ja... ORPHA:93111
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism, Venous malforma... OMIM:612918
Pycnodysostosis
Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Rhizomelia, Ge... ORPHA:763
Fryns Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol... ORPHA:2059
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Double Outlet Right Ventricle
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... ORPHA:3426
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... OMIM:619484
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Osteolysis, Growth delay, Generalized osteoporosis, Premature coronar... OMIM:176670
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Edema, Alopecia, Pericardial e... ORPHA:93552
Focal Myositis
Limitation of joint mobility, Weight loss ORPHA:48918
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase conc... OMIM:109130
Caudal Duplication
Omphalocele, Spina bifida, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Vertebra... ORPHA:1756
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Edema, Hip dislocation, Stage 5 chronic... OMIM:617729
Mixed Connective Tissue Disease
Hepatomegaly, Pericarditis, Myositis, Skin rash, Gastritis, Alopecia, Joint stiffness, Myocarditi... ORPHA:809
Noonan Syndrome 10
Curly hair, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ... OMIM:616564
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
Cerebrooculonasal Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sparse... OMIM:605627
Microphthalmia, Syndromic 3
Vertebral fusion, Sensorineural hearing impairment, Hemivertebrae, Bilateral sensorineural hearin... OMIM:206900
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Toriello-Carey Syndrome
Brachydactyly, Abnormal pinna morphology, Aganglionic megacolon, Sparse eyebrow, Cryptorchidism, ... ORPHA:3338
Tetrasomy 9P
Joint dislocation, Myositis, Glue ear, Biliary atresia, Clinodactyly of the 5th finger, Micropeni... ORPHA:3310
Singleton-Merten Syndrome 2
Osteopenia, Short stature, Aortic valve calcification, Osteolytic defects of the phalanges of the... OMIM:616298
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Arachnodactyly, Congenital diap... OMIM:208050
Leprechaunism
Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased cir... ORPHA:508
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno... ORPHA:1110
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Aortic isth... OMIM:180849
Hyper-Igd Syndrome
Optic disc pallor, Skin rash, Lymphadenitis, Vertigo, Splenomegaly, Hepatosplenomegaly, Arthritis... OMIM:260920
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... ORPHA:91
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level OMIM:171420
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Bone pain, Abnormality ... ORPHA:29073
Huntington Disease-Like 2
Weight loss ORPHA:98934
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Beckwith-Wiedemann Syndrome
Diastasis recti, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Vesicoure... OMIM:130650
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Chori... ORPHA:2162
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment, Leukonychia ORPHA:2698
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Sandal gap, Failure to thrive in infancy, Cachexia, Delayed sk... ORPHA:813
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Delayed ... ORPHA:2235
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... OMIM:112240
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Ankle swelling, Anorexia, Weight loss ORPHA:514
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, F... ORPHA:3042
Beta-Thalassemia Major
Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, Osteoporosis, Genu valgum,... ORPHA:231214
Spondyloenchondrodysplasia
Cerebral calcification, Skin rash, Pneumonia, Short stature, Kyphosis, Vasculitis, Disproportiona... ORPHA:1855
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Patent ductus arteriosus, Micrope... OMIM:300514
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Leukonychia... ORPHA:2905
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur... OMIM:620232
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Scapular winging, Tapered finger, Cupped ear, Wide nasal bridge, Renal ... OMIM:615560
Frontorhiny
Low-set, posteriorly rotated ears, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Co... ORPHA:391474
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost... ORPHA:2232
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Decreased circulating ceruloplasmin conce... OMIM:616828
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria, Brittle hair, Ataxia OMIM:616084
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... ORPHA:449400
Whipple Disease
Hyponatremia, Myositis, Pericarditis, Ataxia, Cachexia, Myocarditis, Uveitis, Arthritis, Infectio... ORPHA:3452
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Abnormal 5th finger morphology, Hirs... ORPHA:1439
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Oliguri... ORPHA:340
Cardiofaciocutaneous Syndrome 3
Short stature, Short neck, Reduced bone mineral density, Scoliosis, Failure to thrive OMIM:615279
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria OMIM:145980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Inability to walk, Elevated circulating alkaline phosphatase concentration OMIM:615716
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... ORPHA:529808
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Slender build, Cachexia, Hearing impairment OMIM:613662
Nicolaides-Baraitser Syndrome
Dry hair, Enlarged joints, Short metatarsal, Low anterior hairline, Prominent interphalangeal joi... OMIM:601358
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... ORPHA:229
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Dilation of Virchow-Robin spaces, Facial hypotonia, Elevated circu... OMIM:615273
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Abnormality of the liver, Triphalangeal ... ORPHA:84
Alpha-Mannosidosis, Infantile Form
Osteopenia, Oligosacchariduria, Cortical thickening of long bone diaphyses, Otitis media, Bilater... ORPHA:309282
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Congenital Myopathy 13
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cryptorchidism, Flexion contractur... OMIM:255995
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight, Acne OMIM:615830
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv... OMIM:142680
Otofaciocervical Syndrome 1
Scapular winging, Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hea... OMIM:166780
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Myelopathy, Abnormal spinal cord morphology, Inability to walk, Dysmetria, Hamstring cont... ORPHA:139396
Hyperostosis Cranialis Interna
Calvarial hyperostosis, Facial palsy, Osteosclerosis of the base of the skull, Hyperostosis crani... OMIM:144755
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Prader-Willi Syndrome
Osteopenia, Short stature, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity... ORPHA:739
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Patent ductus arteriosus, Hip dislocation, Macroglossia, Elevated circulating alkal... OMIM:618268
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Vasculitis, Uveitis, Arthritis, Myopathy... ORPHA:90289
Treacher-Collins Syndrome
Hypoplasia of penis, Absent eyelashes, Abnormal hair morphology, Patent ductus arteriosus, Crypto... ORPHA:861
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Obesity, Abdominal obesity, Scoliosis, Failure to thrive ORPHA:398079
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Delayed skeletal maturation, Long eyelashes, Low-set ears, Thickened he... OMIM:608624
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent jaundice, El... OMIM:601847
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sparse eyebr... OMIM:606164
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Congenital hip dislocation, Ventricular septal defect, Abnormal pinna morpholo... OMIM:244450
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Osteomyelitis, Periodontitis, Elevated circulating C-reactive ... OMIM:116920
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99413
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Mosaic Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:881
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Rhabdomyosarcoma, Polyhydramnios... ORPHA:1052
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elev... OMIM:619991
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Cronkhite-Canada Syndrome
Alopecia, Anorexia, Tapered finger, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fin... ORPHA:2930
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Vesicoureteral reflux, Atrial septal defect, Patent foramen oval... ORPHA:2745
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Dilatation of renal calices, Sensorineural hearing impairment, Synophry... ORPHA:466943
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:2152
Dpagt1-Cdg
Elevated hepatic transaminase, Ataxia, Akinesia, Inability to walk, Flexion contracture, Osteopor... ORPHA:86309
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Alopecia, Recurrent fractures, Abnormal toe morphology, Abnormal f... OMIM:163200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Scoliosis, Delayed p... ORPHA:98754
Ovarian Dysgenesis 8
Eunuchoid habitus, Osteoporosis OMIM:618187
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Short neck, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hy... OMIM:235255
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Sparse eyeb... ORPHA:1071
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cys... OMIM:210710
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Ventricular septal defect, Hypospadias, Short thumb, Patent ... ORPHA:1708
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Stro... ORPHA:173
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Vertical Talus, Congenital
Arthritis OMIM:192950
Shigellosis
Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Rhabdom... ORPHA:810
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Abnormality of the ear, Conductive hearing impairment, Aplasia/Hyp... ORPHA:2753
Gitelman Syndrome
Cerebral calcification, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nep... ORPHA:358
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl... ORPHA:2020
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia OMIM:175500
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia, Ataxia OMIM:620012
Classic Hodgkin Lymphoma
Bone pain, Osteolysis, Anorexia, Weight loss ORPHA:391
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Scoliosis, Delayed p... ORPHA:98793
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Waddling gait, Lumbar hyperlordosis, Short neck, Multicentric ossifi... OMIM:223800
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circu... ORPHA:470
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Timothy Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Hypocalcemia OMIM:601005
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Scoliosis, Delayed p... ORPHA:177904
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Osteoporosis, Hepatitis, Gastrointe... ORPHA:186
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Generalized joint laxity, Osteoporosis, Camptodactyly, Delayed pub... ORPHA:432
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t... OMIM:271665
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Scoliosis, Delayed p... ORPHA:177901
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Ataxia... ORPHA:98808
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Hearing impairment ORPHA:702
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Recurrent fractures, Patent ductus arteriosus, Subperiosteal bo... OMIM:618188
Digeorge Syndrome
Pilonidal sinus, Acne, Short stature, Seborrheic dermatitis, Patent ductus arteriosus, Recurrent ... OMIM:188400
Malignant Migrating Focal Seizures Of Infancy
Inability to walk, Multifocal epileptiform discharges, Aortopulmonary collateral arteries, Hypsar... ORPHA:293181
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Hyperuricemia, Gout OMIM:162000
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Jaundice, ... ORPHA:171
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Urinary incontinence, U... ORPHA:206448
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Ventricular septal defect, Choreoathetosis, Difficulty walking, Atrial ... OMIM:610978
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Ataxia, Jaundice, Osteoporosis, Scoliosis, ... OMIM:203700
Tarsal Coalition
Tarsal synostosis OMIM:186850
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Inability to... ORPHA:3063
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Arachnodactyly, Sandal gap... OMIM:617602
Monosomy 13Q34
Fetal pyelectasis, Osteochondrosis, Horizontal eyebrow, Hypercalcemia ORPHA:96168
Tetrasomy 12P
Cachexia, Short neck, Sparse eyebrow, Delayed skeletal maturation, Joint hyperflexibility, Sparse... ORPHA:884
Xq12-Q13.3 Duplication Syndrome
Short stature, Eczema, Elevated circulating creatine kinase concentration, Low alkaline phosphata... ORPHA:314389
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Loeys-Dietz Syndrome 4
Joint laxity, Torticollis, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Eosinophil... OMIM:614816
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Abnorma... ORPHA:3455
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:619662
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Right ventricular di... ORPHA:70591
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ... OMIM:616145
Sitosterolemia 1
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Carotid a... OMIM:210250
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Chronic pancre... OMIM:307030
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Growth delay... OMIM:614749
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust... OMIM:614204
Craniosynostosis And Dental Anomalies
Hallux valgus, Stapes ankylosis, Papilledema, Prominent metopic ridge, Broad hallux, Absent malle... OMIM:614188
Dyskeratosis Congenita, Autosomal Dominant 3
Cerebral calcification, Short stature, Ataxia, Osteoporosis, Growth delay, Intrauterine growth re... OMIM:613990
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Wide nasal bridge, Co... ORPHA:2209
Hirschsprung Disease
Sensorineural hearing impairment, Weight loss, Failure to thrive in infancy, Adducted thumb ORPHA:388
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Osteoporosis, Abnormal form of ... ORPHA:280
Fanconi Renotubular Syndrome 3
Growth delay, Elevated circulating creatinine concentration, Rickets, Short stature OMIM:615605
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp... OMIM:602531
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Fetal ascites, Ascending aorta hypoplasia, Synophrys, Mu... OMIM:619503
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Prominent superficial veins, Kyphoscoliosis, Knee flexion contracture, Nephrocalcin... OMIM:617402
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility, Limb hypertonia ORPHA:99742
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Erythroderma OMIM:619510
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Cor pulmonale, Bronchiectasis, Recurrent pneumo... OMIM:300755
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Short neck, Abnormal cartilage morphology, Abnormal cartila... ORPHA:2347
Sandifer Syndrome
Abnormal posturing, Torticollis, Decreased cervical spine mobility ORPHA:71272
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Diastasis recti OMIM:606893
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemi... OMIM:270400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymphangiectasia, H... ORPHA:1655
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch OMIM:107550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma, Failure to thrive OMIM:304790
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck, Sparse eyebr... ORPHA:175
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Kyphosis, Synophrys, Gait ataxia, Scoliosis ORPHA:476126
Kawasaki Disease
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria, Skin rash,... ORPHA:2331
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, Lower-limb joint contractu... ORPHA:300605
Osteopetrosis, Autosomal Recessive 3
Cerebral calcification, Basal ganglia calcification, Cranial hyperostosis, Diaphyseal sclerosis, ... OMIM:259730
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Complete atrioventricular cana... OMIM:264480
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, O... OMIM:620025
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Elevated circulating alkaline phosphatase concentration OMIM:616025
X Small Rings
Joint laxity, Short neck, Osteoporosis, Reduced bone mineral density, Growth delay, Aortic root a... ORPHA:96201
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Transient ischemic attack, Myocarditis, Retinal arterial occlusi... ORPHA:464343
Mend Syndrome
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Long fingers, Elevated 8-dehy... ORPHA:401973
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Short stature... OMIM:259050
Peters Plus Syndrome
Ureteral duplication, Micromelia, Polyhydramnios, Bicuspid pulmonary valve, Abnormal pulmonary ve... ORPHA:709
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Intracerebral periventricular calcifications, Skin rash, Chilbl... OMIM:615846
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Split hand, Club... OMIM:600460
Reynolds Syndrome
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... ORPHA:779
Faundes-Banka Syndrome
Broad eyebrow, Sparse scalp hair, Fetal ascites, Cryptorchidism, Cupped ear, Microtia, Long ear, ... OMIM:619376
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, Finger clinodactyly, Vesicour... ORPHA:508488
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal bon... ORPHA:86822
Rett Syndrome
Cachexia, Kyphosis, Short foot, Scoliosis, Bruxism, Stereotypical hand wringing OMIM:312750
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Facial palsy, Abnormal metacarpal morphology, ... ORPHA:2658
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Arachnodactyly, Overlapping toe, Single transverse palmar crease, Contracture of... ORPHA:83617
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Short metatarsal, Micropenis, Muscle... ORPHA:1772
Sarcoidosis
Alopecia, Renal insufficiency, Hypercalcemia, Facial palsy, Nephrolithiasis, Hypercalciuria, Neph... ORPHA:797
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Oliguri... ORPHA:466650
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Dyskeratosis Congenita
Cerebral calcification, Short stature, Recurrent fractures, Osteoporosis, Periodontitis, Scoliosi... ORPHA:1775
Unilateral Polymicrogyria
Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Infantile sensorineural ... ORPHA:268943
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Ataxia, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive OMIM:201100
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Short neck, Growth delay, Elevated circulating alkaline phosphatase concentration, Gait d... ORPHA:247262
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Hyperlipidemia, Osteoporosis, Increased body weight, Increased susceptibility to fractures,... ORPHA:189427
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Protruding ear, Atrial septal defect, Prominent fi... OMIM:147920
Otosclerosis 10
Otosclerosis OMIM:615589
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp... OMIM:619525
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Ureterocele, Vesicoureteral reflux, Sparse hair, Conductive hearing impairment, Micro... OMIM:129900
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Short stature, Pneumonia, Kyphoscoliosis, Cerebral calcification, Increased... OMIM:607944
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Pheochromocytoma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Renal art... OMIM:171300
Gracile Bone Dysplasia
Micropenis, Decreased skull ossification, Hypocalcemia OMIM:602361
Aortic Aneurysm, Familial Thoracic 9
Arachnodactyly, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, Aor... OMIM:616166
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hypolysinemia, Recurrent fractures, Short stature, Increased circulating... OMIM:222700
Craniofacial Microsomia 1
Ectopic kidney, Anotia, Vesicoureteral reflux, Conductive hearing impairment, Duplicated tragus, ... OMIM:164210
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Ataxia,... ORPHA:77293
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Small for gestational age, Jaundice, Elevated circulati... ORPHA:69665
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Large for gestational age, Seborrheic dermatitis, Short neck, Patent ductus arte... OMIM:300868
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Gait disturbance ORPHA:457240
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anorexia, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Obesity ORPHA:36397
Isaacs Syndrome
Weight loss ORPHA:84142
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Inability to walk, Elevated circulating alkaline phosphatase concentration, Short stature, Scoliosis OMIM:614207
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, EEG with burst suppression, Patent ductus arteriosus, Renal cyst, Coarc... OMIM:617260
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Ataxia, Inability to walk, Pulmonary artery stenosis, Dilatation of the ventricula... ORPHA:459070
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Tip-toe gait, Hypocalcemia, Left ventricular hypertrophy, Lowe... ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Hypocalcemia, Micropenis, Butterfly vertebrae OMIM:607143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpa... OMIM:239300
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Immunoglobulin A Vasculitis
Episcleritis, Renal insufficiency, Proteinuria, Skin rash, Edema, Pustule, Orchitis, Angioedema, ... ORPHA:761
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Mixed hearing impairment, Long eyebrows, Widow's peak, Optic atrophy, Wide nasa... OMIM:201180
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Jacobsen Syndrome
Long hallux, Low-set, posteriorly rotated ears, Broad hallux phalanx, Multicystic kidney dysplasi... ORPHA:2308
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Delayed skeletal maturation, Calvarial hyperostosis OMIM:612714
Glass Syndrome
Broad-based gait, Short stature, Facial hypotonia, Camptodactyly, Generalized osteoporosis OMIM:612313
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, C1-C2 subluxation, Joint stiffness, Metaphyseal widen... OMIM:607014
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Adrenal calcification, Osteoporosis, Hyperkalemia, Reduced bone mineral density, Ab... ORPHA:289548
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Keratoconjunctivitis sicca, Colitis ORPHA:309031
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Short stature, Kyphoscoliosis, Osteoporosis OMIM:268400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Sensorineural hearing impairment, Elevated circulating alanine aminotransfera... OMIM:618500
Charge Syndrome
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defe... OMIM:214800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Severe generalized osteoporosis, Kyphoscoliosis, Knee flex... OMIM:210730
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Generalized j... OMIM:619472
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Abnormality of the hand, Sensorineural hearing impairment, Weight loss, Dysphagia ORPHA:298
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Coarctation of aorta... OMIM:618748
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Pro... ORPHA:91139
Riboflavin Transporter Deficiency
Cachexia, Progressive hearing impairment, Dysphagia, Aggressive behavior ORPHA:97229
Hereditary Spherocytosis
Maculopapular exanthema, Ataxia, Jaundice, Gout, Growth delay, Hyperbilirubinemia ORPHA:822
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l... ORPHA:90362
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, At... OMIM:265380
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Reticular Dysgenesis
Failure to thrive, Weight loss, Hearing impairment ORPHA:33355
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cholangitis, Intracranial hemorrhage, Colitis, Ankle swelling, Angioedem... ORPHA:3260
Functioning Gonadotropic Adenoma
Osteopenia, Osteoporosis, Delayed puberty ORPHA:91348
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Macroorchidism, Abnormal morphology of ulna, Joint stiffnes... ORPHA:93
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Sagittal craniosynostosis, Low anterior hairli... ORPHA:79500
Boudin-Mortier Syndrome
Joint laxity, Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Difficulty walking OMIM:619543
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Osteoporosis, Short stature OMIM:613989
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Ankle swelling, Predominantly lower limb lymphedema, Orchitis, L... ORPHA:2035
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Lymphoid Interstitial Pneumonia
Clubbing, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thrive ORPHA:79128
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Punc... ORPHA:247691
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Abnormal pinna morphology, Hypospadias, Absent e... OMIM:219000
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hyperkalemia, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Cerebral calcification, Abnormal cartilage morphology, Bone cyst, Oste... ORPHA:2396
Huntington Disease-Like 2
Weight loss OMIM:606438
17Q11 Microdeletion Syndrome
Osteopenia, Short stature, Cerebral artery stenosis, Rhabdomyosarcoma, Abnormal internal carotid ... ORPHA:97685
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Hypospadias, Absent tragus, Cryptorchidism, Synophrys, Atresia of the ... OMIM:603457
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Synophrys, Protruding ear, Prominent fingertip pads, Atrial septal defect,... OMIM:612474
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Delayed cranial suture closure, Unilateral renal agene... ORPHA:90348
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Plague
Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Abnor... ORPHA:707
Myasthenia Gravis
Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis, Hearing impairment ORPHA:589
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c... OMIM:613095
Meckel Syndrome, Type 1
Asplenia, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plate, Cryptorchidism,... OMIM:249000
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Osteoporosis OMIM:224230
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Synophrys, Joint contracture of the 5th finger, Prominent fingertip pads, Clinodactyl... ORPHA:363611
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Renal... ORPHA:31826
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
Mulibrey Nanism
Cachexia ORPHA:2576
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Sparse axillary hair, Renal salt wasting, Decre... ORPHA:95409
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:605479
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Osteoporosis, Elevated total serum tryptase, Increased susceptibility to fractures ORPHA:98849
Superficial Siderosis
Ataxia, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal cord morphology, Uns... ORPHA:247245
Velocardiofacial Syndrome
Hypocalcemia, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot, Right aorti... OMIM:192430
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Neurooculorenal Syndrome
Mixed hearing impairment, Dextrocardia, Unilateral renal agenesis, Short hallux, Conjugated hyper... OMIM:620305
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Osteopenia, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating... OMIM:619534
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... ORPHA:79099
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Polyhydramnios, Flexion contracture, Abnormal aortic arch mo... ORPHA:96334
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, Transient ischemic attack, Cardiomegaly, Subarachnoid hemo... ORPHA:91387
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Isolated Biliary Atresia
Elevated hepatic transaminase, Small for gestational age, Conjugated hyperbilirubinemia, Jaundice... ORPHA:30391
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated circulating C-reactive pro... ORPHA:3243
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Abnormal intervertebral disk mor... ORPHA:2636
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Anorexia, Spinal cord tumor, Weight loss, Upper li... ORPHA:370348
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Cranioectodermal Dysplasia 1
Joint laxity, Rhizomelia, Sagittal craniosynostosis, Osteoporosis, Tubulointerstitial nephritis, ... OMIM:218330
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr... OMIM:137920
Mast Cell Sarcoma
Weight loss, Hypoplasia of the ear cartilage ORPHA:66661
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle, Absent e... ORPHA:85199
Trisomy 18
Omphalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:3380
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Hepatic... OMIM:617156
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... OMIM:618061
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Portal hypertension, Craniosynostosis, Patent ductus arteriosus, S... OMIM:620005
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Polyhydramnios, Coarctation of aorta, Abnormal aortic mor... ORPHA:1923
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hypospadias, Patent ductus arteriosus, Intracranial hemo... ORPHA:163979
Hepatoerythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration or act... ORPHA:95159
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Facial palsy, Cranial hyperostosis, Flared metaphysis, Decreased ... OMIM:259720
X-Linked Creatine Transporter Deficiency
Joint hyperflexibility, Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Cachexia ORPHA:1389
Immunodeficiency 68
Septic arthritis, Lymphadenitis, Recurrent skin infections OMIM:612260
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Joint hypermobility, Vascular dilatation, Long fingers, Varicose veins, Bilateral talipes equinov... OMIM:618343
Cushing Disease
Acne, Osteoporosis, Increased body weight, Recurrent cutaneous fungal infections, Proximal amyotr... ORPHA:96253
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Broad-based gait, Short stature, Decreased serum iron, Inability to wal... ORPHA:438213
Scimitar Syndrome
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... ORPHA:185
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Posteriorly rotated ears, Tapered finger, Cyst of the ductus choledochus, Patent duc... OMIM:619480
Caroli Disease
Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundi... ORPHA:53035
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia ORPHA:42
Neuroblastoma, Susceptibility To, 1
Spinal cord compression, Failure to thrive, Bone pain, Weight loss OMIM:256700
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, ... OMIM:305600
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Facial edema, Crusting ery... ORPHA:324625
Noonan Syndrome 9
Curly hair, Hydroureter, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Coarctation o... OMIM:616559
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Distal symphalangism, Microtia OMIM:154230
Cole Disease
Calcinosis cutis, Ectopic calcification, Abnormal blood phosphate concentration OMIM:615522
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Hypospadias, Nonimmune hydrops fetalis, Absent ... ORPHA:124
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Anorexia, Hearing impairment ORPHA:65682
Meester-Loeys Syndrome
Joint dislocation, Arachnodactyly, Joint hypermobility, Hypertrichosis, Mitral valve prolapse, As... OMIM:300989
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Conjugated hyperbi... ORPHA:567983
Multiple Endocrine Neoplasia Type 2
Joint laxity, Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Elevated urina... ORPHA:653
Idiopathic Bronchiectasis
Clubbing, Cachexia ORPHA:60033
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic intersti... ORPHA:289390
Fraser Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:2052
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Weight loss, Elevated circulating alkaline phosphatase concentrati... ORPHA:67
Holocarboxylase Synthetase Deficiency
Alopecia, Anorexia, Weight loss ORPHA:79242
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Chorioretinitis, Arthritis, Patchy alopecia, Iriti... OMIM:109650
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:261537
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... OMIM:619377
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... ORPHA:52427
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly, Pa... OMIM:617088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinodactyly of the... ORPHA:2001
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hepatosplenomegaly, F... ORPHA:31150
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Delayed skeletal maturation, Joint hyperflexibility, Scoliosis, Lipoma, Macrotia, Broad... ORPHA:109
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Scoliosis, Enamel hypoplasia, Failure to... OMIM:610965
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... OMIM:217085
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... OMIM:301074
Craniofacioskeletal Syndrome
Hypospadias, Patent ductus arteriosus, Hypocalcemia, Interrupted aortic arch, Hydronephrosis OMIM:300712
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Laryngotracheomalacia, Abnormality of the ear, Coarcta... ORPHA:1199
Developmental And Epileptic Encephalopathy 80
Growth delay, Elevated circulating alkaline phosphatase concentration, Failure to thrive OMIM:618580
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Supernumerary nipple, Kyphoscoliosis, Aggressive behavior, Synostosi... ORPHA:466791
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... OMIM:608978
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Pedal edema, Hash... ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Microvesicular hepatic steatosis, Aortic valve atresia, Low anterior hairl... OMIM:220111
Prolactinoma
Osteopenia, Osteoporosis, Delayed puberty ORPHA:2965
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization ORPHA:199299
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex cong... ORPHA:99885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Glomerulonephritis, Recurrent skin infections, Flexion contra... ORPHA:79408
Follicular Lymphoma
Weight loss ORPHA:545
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration, Weight loss ORPHA:330001
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Va... ORPHA:3261
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cryptorchidism, Abnormal heart morphology, Preauricular hair displacement... OMIM:154500
Addison Disease
Hyponatremia, Adrenal calcification, Hypercalcemia, Sparse axillary hair, Renal salt wasting, Dec... ORPHA:85138
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Pallister-Hall Syndrome
Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular canal defect, Low-set, posteri... ORPHA:672
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Clubbing, Weight loss ORPHA:79127
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Edema, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Pleura... ORPHA:544482
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:261552
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Jaundice, Elevated circulating alkaline phosphatase c... OMIM:600803
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebr... ORPHA:2929
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Generalized hirsutism, Cachexia ORPHA:1933
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Osteoporosis, Ataxia OMIM:127550
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Accelerated skeletal maturation, Weight loss, Agitation ORPHA:424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration, Diastasis recti, Scoliosis OMIM:618548
Acute Promyelocytic Leukemia
Addictive alcohol use, Bone pain, Anorexia, Weight loss ORPHA:520
Estrogen Resistance
Osteopenia, Acne, Elevated alkaline phosphatase of bone origin, Delayed puberty OMIM:615363
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Ragged-red muscle fibers, R... OMIM:124000
Congenital Erythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Os... ORPHA:79277
Orofaciodigital Syndrome Type 1
Finger syndactyly, Alopecia, Brittle hair, Abnormal dental enamel morphology, Tarsal synostosis, ... ORPHA:2750
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Macroglossia, Elevated circulating al... ORPHA:85443
Cystic Fibrosis
Osteopenia, Elevated hepatic transaminase, Sinusitis, Osteoporosis, Bronchiectasis, Failure to th... ORPHA:586
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Weight loss ORPHA:312
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Perio... OMIM:161700
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis, Weight loss, Hypokalemia, Delayed puberty ORPHA:91347
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... ORPHA:980
Dermatomyositis
Abnormal hair quantity, Pericarditis, Edema, Periorbital edema, Myocarditis, Vasculitis, Inflamma... ORPHA:221
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Optic neuropathy, Pericardial effusion, Iridocyclitis, Splenomegaly, Clubbing, Hype... OMIM:181000
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Osteoporosis, Abnormal blood ion concentration, Gastrointes... ORPHA:79404
Thymoma
Rheumatoid arthritis, Weight loss ORPHA:99867
Branchioskeletogenital Syndrome
Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Ureteral stenosis, ... ORPHA:1299
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Back pain, Pericarditis, Maculopapular exanthema, Elevated circula... ORPHA:99826
Elsahy-Waters Syndrome
Posteriorly rotated ears, Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syn... OMIM:211380
Dyskeratosis Congenita, X-Linked
Short stature, Ataxia, Osteoporosis, Conjunctivitis, Intrauterine growth retardation, Pterygium, ... OMIM:305000
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Oromandibular Dystonia
Weight loss, Dysphagia, Bruxism ORPHA:93958
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthrit... ORPHA:536
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Descending aortic dissection, Cystocele, Foot acroosteolysis, Mitral valve prolap... OMIM:130050
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:142
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Perry Syndrome
Weight loss ORPHA:178509
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Mitral valve... OMIM:175050
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangi... ORPHA:562639
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Chronic pancreatitis, Hyperlipide... OMIM:232240
Lynch Syndrome
Flexion contracture, Attention deficit hyperactivity disorder, Weight loss ORPHA:144
Limb Body Wall Complex
Ventral hernia, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of th... ORPHA:2369
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... ORPHA:2388
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Glossopharyngeal Neuralgia
Weight loss, Abnormality of the cervical spine, Oral-pharyngeal dysphagia ORPHA:221098
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure to thrive ORPHA:90796
Familial Colorectal Cancer Type X
Flexion contracture, Attention deficit hyperactivity disorder, Weight loss ORPHA:440437
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhyd... OMIM:601803
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Lymphedema, Patent ductus arteriosus, Chorioreti... OMIM:600268
Pagod Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormalit... ORPHA:991
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Weight loss ORPHA:3226
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Caroli Syndrome
Elevated hepatic transaminase, Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, I... ORPHA:480520
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, Coro... OMIM:615812
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Anorexia, Weight loss, Failure to thrive ORPHA:37
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Solitary Fibrous Tumor
Hypophosphatemic rickets, Low back pain, Weight loss ORPHA:2126
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity... ORPHA:60030
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Osteoporosis, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Pr... ORPHA:99889
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... ORPHA:100085
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Alstrom Syndrome
Hyperostosis frontalis interna, Accelerated skeletal maturation, Atherosclerosis OMIM:203800
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:521219
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Kaposi Sarcoma
Weight loss ORPHA:33276
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Scapular winging, Sensorineural hearing impairment, Weight loss, Atrophy/Degeneration involving t... OMIM:607459
Beta-Ketothiolase Deficiency
Oral aversion, Agitation, Anorexia, Weight loss ORPHA:134
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Lacrimoauriculodentodigital Syndrome 1
Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Conjunctivitis, Triphalange... OMIM:149730
Thymic Carcinoma
Weight loss ORPHA:99868
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Carotid artery dilatation, Elevated circulati... ORPHA:84081
Chronic Beryllium Disease
Weight loss ORPHA:133
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Leg musc... ORPHA:139399
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Sensorineural hearing impairment, Cachexia, Short palm ORPHA:3217
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Cerebral hem... ORPHA:90068
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Abnormal B-type natriu... ORPHA:66529
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Alopecia, Phimosis, Urinary bladder inflammation, Flexi... ORPHA:99921
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Elevated hepatic transaminas... ORPHA:79318
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Lead Poisoning
Delayed skeletal maturation, Cranial hyperostosis ORPHA:330015
Polyarteritis Nodosa
Weight loss ORPHA:767
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Abnormal vertebral morphology, Weight loss ORPHA:284
Cap Polyposis
Weight loss ORPHA:160148
Bullous Pemphigoid
Weight loss ORPHA:703
Carney-Stratakis Syndrome
Weight loss, Tinnitus, Hearing impairment, Dysphagia ORPHA:97286
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart... ORPHA:42775
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Liposarcoma
Weight loss ORPHA:69078
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Sensorineural hearing impairment, Weight loss, Dysphagia, Slender build OMIM:603041
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Juvenile Polyposis Of Infancy
Cachexia, Clubbing of fingers, Midclavicular hypoplasia, Low-set ears, Broad thumb, Subcutaneous ... ORPHA:79076
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Broad-based gait, Short neck, Hypocalcemia, Hydronephrosis OMIM:620330
Hereditary Late-Onset Parkinson Disease
Weight loss, Agitation, Impulsivity, Dysphagia ORPHA:411602
Familial Glucocorticoid Deficiency
Failure to thrive, Anorexia, Weight loss ORPHA:361
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss ORPHA:100080
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:187300
Autoimmune Pulmonary Alveolar Proteinosis
Clubbing, Weight loss ORPHA:747
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexia, Weight loss, Long eyelashes ORPHA:79430
Loeffler Endocarditis
Weight loss ORPHA:75566
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Adrenocortical Carcinoma
Weight loss, Increased body weight, Hypertrichosis ORPHA:1501
Bronchial Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:97287
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Absent thumb, Short thumb, Partial duplication of ... OMIM:105650
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss ORPHA:100082
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Sensorineural hearing impairment, Failure to thrive, Dysphagia ORPHA:1018
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Ataxia, Myelitis ORPHA:83597
Nephroblastoma
Weight loss ORPHA:654
Familial Pancreatic Carcinoma
Back pain, Anorexia, Weight loss ORPHA:1333
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Nijmegen Breakage Syndrome
Abnormal hair quantity, Cachexia, Short neck, Abnormal hair morphology, Low anterior hairline, At... ORPHA:647
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia ORPHA:276152
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia ORPHA:913
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Weight loss ORPHA:20
Wolman Disease
Cachexia ORPHA:75233
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Ppoma
Hypercalcemia ORPHA:97278
46,Xy Partial Gonadal Dysgenesis
Osteoporosis, Delayed puberty ORPHA:251510
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Johanson-Blizzard Syndrome
Joint laxity, Sparse scalp hair, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol ... OMIM:243800
Pneumocystosis
Weight loss ORPHA:723
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Nephrolithiasis, Hypercalciuria, Reduced bone mineral density, Increased susceptib... ORPHA:652
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Somatostatinoma
Hypercalcemia ORPHA:97283
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Stiff neck, Ataxia, Facial palsy, Abnormal spinal cord morphology ORPHA:68
Grfoma
Hypercalcemia ORPHA:97261
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Weight loss, Cholecystitis, Elevated gamma-glutamyltransferase level, Elev... ORPHA:100086
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Glucagonoma
Hypercalcemia ORPHA:97280
Neuroendocrine Tumor Of Stomach
Anorexia, Weight loss ORPHA:100075
Polycythemia Vera
Tinnitus, Weight loss ORPHA:729
Budd-Chiari Syndrome
Weight loss ORPHA:131
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Stevens-Johnson Syndrome
Weight loss, Dysphagia ORPHA:36426
Norrie Disease
Failure to thrive, Cachexia, Sensorineural hearing impairment, Protruding ear, Self-injurious beh... ORPHA:649
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Accelerated skeletal maturation, Weight loss, Failure to thrive, Hirsutism, Prem... ORPHA:90794
Oculopharyngodistal Myopathy 1
Sensorineural hearing impairment, Weight loss, Dysphagia OMIM:164310
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Klatskin Tumor
Weight loss ORPHA:99978
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Hearing impairment ORPHA:220295
Yunis-Varon Syndrome
Micropenis, Hypospadias, Renal artery stenosis, Renovascular hypertension ORPHA:3472
Neurofibromatosis, Type I
Renal artery stenosis OMIM:162200
Castleman Disease
Weight loss ORPHA:160
Familial Thrombocytosis
Weight loss ORPHA:71493
Kikuchi-Fujimoto Disease
Alopecia, Anorexia, Weight loss ORPHA:50918
African Trypanosomiasis
Alopecia, Aggressive behavior, Myelopathy, Weight loss, Myelitis ORPHA:3385
Granulomatosis With Polyangiitis
Sensorineural hearing impairment, Weight loss ORPHA:900
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Pyomyositis
Weight loss ORPHA:764
Pancreatoblastoma
Weight loss ORPHA:677
Tropical Pancreatitis
Weight loss ORPHA:103918
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Anorexia, Weight loss ORPHA:91500
Malt Lymphoma
Weight loss ORPHA:52417
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Goodpasture Syndrome
Weight loss OMIM:233450
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Type 2 Diabetes Mellitus
Increased waist to hip ratio OMIM:125853

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 Enpp1

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 Enpp1.

No publications found that use IMPC mice or data for Enpp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Enpp1em1(IMPC)Ccpcz Exon Deletion Mice
Enpp1tm380784(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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