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Gene: Cyp27b1 MGI:1098274

Gene Summary

Name:

cytochrome P450, family 27, subfamily b, polypeptide 1

Synonyms:

Vddr, 1alpha(OH)ase, P450c1, 25(OH)D 1alpha-hydroxylase, P450VD1alpha, Cyp40, Vdd1, Pddr, Cyp27b, Cyp1, 25-hydroxyvitamin D3 1alpha-hydroxylase, VddrI, Cp2b

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IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal ulna morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased circulating calcium level	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal cranium morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.41×10^-12
increased circulating alkaline phosphatase level	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased body length	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.40×10^-26
abnormal joint morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased circulating phosphate level	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.33×10^-05
abnormal pelvic girdle bone morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.83×10^-08
abnormal radius morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
increased circulating bilirubin level	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.02×10^-06
increased circulating aspartate transaminase level	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.77×10^-06
abnormal tibia morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
short tibia	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal clavicle morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased exploration in new environment	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.51×10^-08
decreased locomotor activity	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.06×10^-08
abnormal fibula morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased grip strength	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.71×10^-13
abnormal bone structure	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.22×10^-27
decreased bone mineral density	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal femur morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased leukocyte cell number	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.00×10^-05
abnormal scapula morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
abnormal rib morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
decreased total body fat amount	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.85×10^-05
decreased lymphocyte cell number	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.03×10^-05
decreased bone mineral content	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.44×10^-34
abnormal humerus morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.26×10^-13
abnormal vertebrae morphology	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.24×10^-12

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Hind Leg and Hip

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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Human diseases caused by Cyp27b1 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.

Human diseases associated with Cyp27b1 (2 diseases)
Human diseases predicted to be associated with Cyp27b1 (1454 diseases)

The table below shows human diseases associated to Cyp27b1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Vitamin D Hydroxylation-Deficient Rickets, Type 1A		Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets		Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Eleva...	ORPHA:289157

The table below shows human diseases predicted to be associated to Cyp27b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri...	OMIM:612089
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Osteoporosis	Osteoporosis	OMIM:166710
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip...	ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Growth delay, Increased circulating beta-C-termi...	ORPHA:157215
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Elevated circulati...	OMIM:307800
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Short stature	OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Growth delay, Bowing of the legs	ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Enlargement of t...	OMIM:600081
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemic tetany, H...	ORPHA:93324
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periost...	OMIM:617994
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Disproportionate short-limb short stature, Hyperphos...	OMIM:618618
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Eleva...	ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:277440
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300009
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatem...	OMIM:613388
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s...	OMIM:612462
Progressive Familial Intrahepatic Cholestasis	Short stature, Reduced bone mineral density, Failure to thrive, Hypocalcemia	ORPHA:172
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi...	ORPHA:249
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency...	ORPHA:99879
Renal Tubular Acidosis, Proximal	Short stature, Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Joint dislocation, Abnormal epiphysis m...	ORPHA:53
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys...	ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Kenny-Caffey Syndrome, Type 1	Small hand, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Dec...	OMIM:244460
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:94089
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Postnata...	OMIM:614732
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney ...	ORPHA:1652
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia	OMIM:109130
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Fanconi Renotubular Syndrome 3	Rickets, Elevated circulating creatinine concentration, Short stature, Growth delay, Bowing of th...	OMIM:615605
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Rickets, Failure to thrive, Growth delay	OMIM:602722
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay...	OMIM:617974
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Pathologic fracture, Hyp...	OMIM:156400
Linear Verrucous Nevus Syndrome	Genu recurvatum, Mental deterioration, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Redu...	ORPHA:2611
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Failure ...	OMIM:239200
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh...	OMIM:603233
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Increased serum bile acid concentration	OMIM:607748
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hypophosphatemia...	ORPHA:89936
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia, Short stature	OMIM:134600
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, I...	OMIM:619489
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Failure to thrive, Aplasia/Hypoplasia of the thymus, Osteomalac...	ORPHA:2176
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel...	ORPHA:1350
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Decreased response to growth hormone stimul...	OMIM:241410
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Incr...	ORPHA:289176
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Fanconi-Bickel Syndrome	Nephropathy, Osteopenia, Generalized aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Failur...	ORPHA:2088
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Delayed pube...	ORPHA:213
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Weight l...	OMIM:219800
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femora...	ORPHA:1901
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve...	OMIM:619795
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow...	OMIM:201250
Ring Chromosome Y Syndrome	Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,...	ORPHA:261529
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612286
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Cognitive impairment, Abnormal bone ossificatio...	ORPHA:175
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy...	OMIM:616026
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Elevated circulating parathyroid hormone level, Short finger, Hypog...	OMIM:103580
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Erlenmeyer flask deformity of the femu...	OMIM:618476
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Short stature, Conjugated hyperbilirubinemia	OMIM:211600
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Rickets, Beta 2-microglobulinuria, Glycosuria, Osteomala...	OMIM:227810
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Rickets, Failure to thrive, Hypokalemia	OMIM:611590
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the...	OMIM:127000
Premature Ovarian Failure 2B	Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo...	OMIM:300604
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612287
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,...	ORPHA:3104
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ...	ORPHA:3130
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Osteopenia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Stre...	ORPHA:243
Hip Dysplasia, Beukes Type	Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Osteomalacia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:600740
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis, Primar...	OMIM:615300
Normosmic Congenital Hypogonadotropic Hypogonadism	Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li...	ORPHA:432
Hypophosphatasia	Narrow chest, Abnormal metaphysis morphology, Irritability, Bowing of the long bones, Abnormal ri...	ORPHA:436
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypophosphatemia, Anterior ri...	OMIM:258480
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Epiphyseal dysplasia, Limited elb...	ORPHA:79106
Satoyoshi Syndrome	Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Short metacarpal, Brach...	OMIM:600705
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, P...	OMIM:259700
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentratio...	OMIM:615883
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia, Hypertr...	OMIM:612526
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal e...	ORPHA:85198
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho...	ORPHA:1837
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Osteopenia, Growth delay, Horseshoe kidney, Hypophosphatemic rickets, Hyperph...	OMIM:163200
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Genu valgum, Hypophosphatemic rickets, Hyperphosphaturia, Short statu...	OMIM:613312
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, P...	OMIM:606407
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Postnatal growth retardation, Hypocalcemia,...	ORPHA:2323
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Infantile Sialic Acid Storage Disease	Osteopenia, Abnormal foot morphology, Abnormal thorax morphology, Splenomegaly, Conjugated hyperb...	OMIM:269920
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact...	ORPHA:2633
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Metatropic Dysplasia	Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, ...	ORPHA:2635
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidi...	OMIM:614837
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Distal Renal Tubular Acidosis	Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Increased susceptibility to fractu...	ORPHA:18
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Oculoskeletodental Syndrome	Renal agenesis, Short femoral neck, Elbow flexion contracture, Splenomegaly, Cryptorchidism, Hypo...	OMIM:618440
Oculoskeletodental Syndrome	Short 5th finger, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hypocalcemia, Enamel...	ORPHA:557003
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif...	ORPHA:79444
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Abnormality of the vertebral column, Coxa valga	OMIM:191420
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Progressive Osseous Heteroplasia	Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl...	ORPHA:2762
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5...	ORPHA:71289
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Increased bo...	ORPHA:36913
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Failure to thrive...	OMIM:162300
Estrogen Resistance	Osteopenia, Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Incr...	OMIM:615363
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Ele...	OMIM:241500
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Failure to thrive, Hypocalcemia, Decreased skull ossificati...	OMIM:602361
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Rickets, Failure to thrive, Postnatal growth retardation, Hypocalcemia,...	OMIM:212750
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, A...	OMIM:619151
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,...	OMIM:609616
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed cranial suture closure, Umbil...	ORPHA:95717
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Type I diabetes mellitus, Rickets, Failure to thrive	OMIM:560000
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Intrauterine growth retard...	ORPHA:50811
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema...	ORPHA:397685
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of...	ORPHA:785
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Obesity, Increased serum te...	ORPHA:247768
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo...	ORPHA:1801
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Genu valgum, Hypophosphatemic rickets	OMIM:618913
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma...	ORPHA:99642
Infantile Nephropathic Cystinosis	Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormal...	ORPHA:411629
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Hyperphosphatemia, Postnatal growth retardation, Intrauterine growth retardation, H...	ORPHA:93325
Maffucci Syndrome	Pituitary adenoma, Osteolysis, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Sh...	ORPHA:163634
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Female infertility, Male infertility, Ambiguous geni...	ORPHA:91
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Lymphadenopathy, Anemia, Growth delay	ORPHA:100025
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive, Postnatal growth retardation, Hyperbilirubinemia, Abnormal serum bile...	ORPHA:79303
Malaria	Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Thromb...	ORPHA:673
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,...	OMIM:601559
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e...	OMIM:608728
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif...	ORPHA:79443
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac...	ORPHA:97289
Seckel Syndrome 7	Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea...	OMIM:614851
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Hypocalcemia, Short humerus, Short ribs...	OMIM:607143
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ...	OMIM:309000
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating...	OMIM:146200
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperb...	OMIM:259720
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Hypocalcemia, Short neck, Pectus excavatum, Tapered finger	ORPHA:1438
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle...	OMIM:609993
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Kyphosis, Recurrent fractures, Short humerus, Lateral femoral bowi...	OMIM:239000
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth horm...	OMIM:101800
Frasier Syndrome	Focal segmental glomerulosclerosis, Decreased serum estradiol, Nephrotic syndrome, Streak ovary, ...	ORPHA:347
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Rickets, Failure to thrive, Conjugated hyperbilirubinemia	OMIM:607765
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Redu...	OMIM:620639
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha...	OMIM:615923
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Decreased body weight, Brachydactyly, Short stature, Reduced bone mineral den...	OMIM:618392
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Mucopolysaccharidosis Type 4	Genu valgum, Bowing of the long bones, Hernia, Short neck, Cognitive impairment, Pectus carinatum...	ORPHA:582
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma...	OMIM:248250
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi...	ORPHA:2370
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Infantile Myofibromatosis	Chondrocalcinosis, Limitation of joint mobility, Abnormal thorax morphology, Abnormal metaphysis ...	ORPHA:2591
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal form of the vertebral bod...	ORPHA:429
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo...	ORPHA:1988
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level...	OMIM:609441
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Shoulder girdle muscle weakness, Lumbar hyperlordosis, El...	OMIM:167320
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi...	ORPHA:337
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo...	OMIM:271700
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Postnatal growth retardation, Hepatosplen...	ORPHA:1655
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Osteoarthritis of the elbow, Limitation of joint mobility, Short ...	ORPHA:2619
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Single transverse palm...	OMIM:619743
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,...	ORPHA:143
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Growth delay, Glycosuria, Hypernatriuria, Failure to thrive, Low...	ORPHA:47159
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Renal insufficiency, Renal hypoplasia/aplasia, Thrombocytopenia, Anem...	ORPHA:2123
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane...	ORPHA:166024
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Hypercholanemia, Familial, 2	Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
X-Linked Agammaglobulinemia	Failure to thrive, Osteomyelitis, Hypocalcemia, Abnormality of the lymphatic system, Weight loss,...	ORPHA:47
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diap...	ORPHA:2911
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, Metaphyseal dys...	ORPHA:1328
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Cryptorchidism, Abnormal metacarpal morphology, Short palm, Aplasia/hypoplasia of t...	ORPHA:2636
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia, Bone cyst	ORPHA:2668
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Narrow chest, Abnormal ...	ORPHA:2484
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short...	ORPHA:198
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Carpal bone aplasia, Fibular ap...	OMIM:200500
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormal rib mor...	ORPHA:1836
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Familial Isolated Hypoparathyroidism	Short stature, Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone conc...	ORPHA:2238
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Severe limb shortening, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff...	ORPHA:2237
Pseudopseudohypoparathyroidism	Obesity, Pseudohypoparathyroidism, Brachydactyly, Short stature, Osteoporosis, Short metatarsal, ...	OMIM:612463
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Hypocalcemia, Hypoparathyroidism, Hypothyroidism, Brachydactyly, ...	ORPHA:1563
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hypoparathyroidism, Decreased circulating cerulop...	OMIM:277900
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ...	OMIM:194072
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m...	ORPHA:99880
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Delayed cranial suture closure, Umbil...	ORPHA:95716
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I...	ORPHA:2410
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Recurrent fractures	OMIM:268315
Neu-Laxova Syndrome	Osteopenia, Rickets, Osteomalacia, Hypogonadism, Intrauterine growth retardation, Osteoporosis, F...	ORPHA:2671
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting,...	ORPHA:90794
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Hypocalcemia, Spleno...	ORPHA:667
Hypophosphatasia, Childhood	Rachitic rosary, Elevated plasma pyrophosphate, Craniosynostosis, Waddling gait, Bowing of the legs	OMIM:241510
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short neck, Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Cranioectodermal Dysplasia 1	Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Short toe, H...	OMIM:218330
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Ver...	OMIM:610967
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Weight loss, Osteoporosis, Growth delay	ORPHA:309031
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydac...	OMIM:616300
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Abnormal ...	ORPHA:1426
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo...	ORPHA:1106
Raine Syndrome	Micromelia, Thoracic hypoplasia, Long hallux, Micrognathia, Bowing of the long bones, Short neck,...	OMIM:259775
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Growth delay, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, Hypocalc...	ORPHA:90362
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Genu valgum, Cryptorchidism, Hypophosphatemia, Hip dislocation, Arthritis, Recurren...	ORPHA:534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio...	ORPHA:968
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Abnormal hip bone morphology, Short stature, Hypoplas...	ORPHA:577
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Addison Disease	Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Renal sa...	ORPHA:85138
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreas...	ORPHA:3464
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi...	ORPHA:3320
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote...	ORPHA:436271
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Growth delay, Slender build, Intrauterin...	OMIM:613658
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Kyphosis, Bowing of limbs due to mult...	OMIM:259440
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC...	OMIM:614736
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Azoospermia, Short stature, Hypoplasia of the uterus, ...	OMIM:601076
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Abnormal thorax morphology, Hypoplasia of the thymus	OMIM:200900
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen...	OMIM:620010
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l...	ORPHA:3035
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment	ORPHA:79234
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Failure to thrive, Moderately short stature, Abnormal metaphysis ...	ORPHA:157965
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility	ORPHA:1875
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Hypocalcemia, Hypokalemia, Hyponatr...	OMIM:617913
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Abnormal blood ion conce...	ORPHA:37042
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Atax...	OMIM:300232
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Decreased pr...	ORPHA:543
Rhizomelic Chondrodysplasia Punctata, Type 5	Broad-based gait, Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes ...	OMIM:616716
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Eleva...	OMIM:620366
46,Xy Sex Reversal 4	Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine concentration, Distal sympha...	OMIM:154230
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote...	OMIM:220110
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia, Clubbing, Clubbing of fingers	OMIM:175500
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Sho...	OMIM:228520
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Wolcott-Rallison Syndrome	Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defic...	ORPHA:1667
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Postnatal growth retard...	OMIM:620632
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:2631
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha...	OMIM:614524
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ataxia, Bilateral talipe...	OMIM:253010
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia, Clinodactyly, Micrognathia, Clinodactyly of the 5th finger, Short at...	ORPHA:73272
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Desbuquois Syndrome	Genu recurvatum, Small hand, Scoliosis, Elbow dislocation, Camptodactyly of finger, Bell-shaped t...	ORPHA:1425
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,...	OMIM:608747
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma...	ORPHA:392
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Nephrocalcinosis, Failure to thrive, Medullary n...	OMIM:143880
Pyle Disease	Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dysplasia, Metaphyseal wideni...	OMIM:265900
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con...	OMIM:210720
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes, Tal...	OMIM:108720
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper...	ORPHA:140286
Hydatidiform Mole	Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Cryptorchidism, Splenomegaly, Hypocalcemia, Thyroid lymphangiectasia...	OMIM:235255
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hy...	ORPHA:699
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:94086
Achondrogenesis Type 1B	Narrow chest, Micromelia, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical he...	ORPHA:93298
Lathosterolosis	2-3 toe cutaneous syndactyly, Elevated circulating lathosterol concentration, Postaxial foot poly...	OMIM:607330
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat...	OMIM:108721
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu...	OMIM:617925
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Inguinal hernia, Supernumerary ribs, Patellar subluxation, Bilateral talipes...	ORPHA:2958
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Bowing of the legs, Apl...	ORPHA:2502
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul...	ORPHA:958
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus,...	ORPHA:457395
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A...	OMIM:224300
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Osteopenia, Abnormality of carpal bone ossification, Generalized li...	OMIM:608154
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di...	OMIM:300863
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating ...	ORPHA:280356
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Renal insufficiency, Hyponatre...	ORPHA:247353
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenop...	OMIM:608971
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs ...	OMIM:259420
Bangstad Syndrome	Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ...	ORPHA:1227
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A...	OMIM:615777
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Postnatal gro...	ORPHA:254531
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Thoracic hypop...	OMIM:617866
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Timothy Syndrome	Cutaneous syndactyly, Hypocalcemia	OMIM:601005
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor...	OMIM:619638
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Mycetoma	Structural foot deformity, Painless fractures due to injury, Abnormal form of the vertebral bodie...	ORPHA:2583
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ...	ORPHA:85166
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Lumbar hyperlordosis...	OMIM:602471
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hyperbilirubinemia, Micr...	OMIM:210710
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,...	ORPHA:91348
Double Outlet Right Ventricle	Failure to thrive, Aplasia/Hypoplasia of the thymus, Hypoparathyroidism, Abnormality of cartilage...	ORPHA:3426
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Decreased calvarial ossif...	OMIM:616229
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Wide distal femoral metaphysis, Umbil...	OMIM:614856
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Micrognathia, Decreased skull ossification, Abnormal metacarpa...	ORPHA:1452
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Micrognathia, Short r...	OMIM:215045
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hype...	OMIM:617952
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move...	ORPHA:94068
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Lymphopenia, Narrow vertebral interpedicular distance, Metaph...	OMIM:250250
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Distal Limb Deficiencies-Micrognathia Syndrome	Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Microretrognathia, Oligodactyly, Abno...	ORPHA:1307
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Gait ataxia, Micrognathia, 2-3 toe...	ORPHA:476126
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Rhabdoid Tumor	Renal neoplasm, Hematuria, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Short neck, Abnormal ...	ORPHA:251014
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla...	OMIM:187600
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar...	OMIM:187601
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Hypocalcemia, Barrel-shaped chest, Pes pla...	OMIM:300712
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Achondrogenesis Type 1A	Narrow chest, Micromelia, Abnormal enchondral ossification, Umbilical hernia, Micrognathia, Multi...	ORPHA:93299
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Inguinal hernia, Long fibula, Cognitive impairment, ...	ORPHA:935
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,...	OMIM:239199
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Osteomyeli...	ORPHA:36234
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Abnormal epiphysis morphology, Delayed cranial suture cl...	ORPHA:90674
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis...	OMIM:620662
Martsolf Syndrome 1	Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint hypermobility, Short...	OMIM:212720
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm	ORPHA:177910
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Ataxia	ORPHA:3363
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Amen...	ORPHA:2795
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop...	ORPHA:199299
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Equinovarus deformity, Pes cavus, Equinus calcaneus, Hypocalcemia, Lethargy, Decrea...	ORPHA:746
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,...	OMIM:229600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep...	OMIM:617425
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Abnormality of the joint spac...	ORPHA:93333
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger sy...	OMIM:102510
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Bruck Syndrome 2	Platyspondyly, Osteopenia, Pectus carinatum, Pterygium, Elbow flexion contracture, Femoral bowing...	OMIM:609220
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cooper-Jabs Syndrome	Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den...	ORPHA:1488
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Female infertility, Failure to thrive, Elevated circulating creatine kinase concentration, Short ...	OMIM:619518
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi...	ORPHA:314795
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly...	OMIM:263520
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Shallow acetabular fossae, Proximal radio-ulnar synostosis, Radial bowing, Aplastic anemia, Ulnar...	OMIM:605432
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, H...	OMIM:211900
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increase...	OMIM:267700
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly, Neutropenia, Abnormal rib morpho...	ORPHA:2643
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Post-Traumatic Pituitary Deficiency	Osteopenia, Decreased response to growth hormone stimulation test, Decreased testicular size, Dec...	ORPHA:95619
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Umbilical hernia, Lethargy, Delayed p...	ORPHA:90673
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Depression, Tip-toe gait, Clinodactyly, Attention deficit hyperactiv...	ORPHA:293939
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multiple prenatal fractures, Recu...	OMIM:301014
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Urinary incontinenc...	ORPHA:358
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Le...	ORPHA:2785
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Postnatal growth retardation, Hepatosplenomegaly, Intrauterine g...	ORPHA:353298
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, P...	ORPHA:95409
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom...	ORPHA:324964
Meckel Syndrome 12	Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,...	OMIM:616258
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, Short middle ph...	OMIM:618853
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Bro...	OMIM:252600
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W...	OMIM:619131
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Mic...	ORPHA:2522
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab...	ORPHA:1772
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypoc...	ORPHA:163979
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S...	ORPHA:168555
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia	ORPHA:428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Mi...	OMIM:616897
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture...	ORPHA:800
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Femor...	ORPHA:140
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili...	ORPHA:232
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie...	ORPHA:313855
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Progeria-Short Stature-Pigmented Nevi Syndrome	Generalized osteoporosis, Decreased serum estradiol, Osteopenia, Small for gestational age, Short...	ORPHA:2959
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate...	OMIM:619938
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Isolated Polycystic Liver Disease	Back pain, Increased total bilirubin	ORPHA:2924
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Bachmann-Bupp Syndrome	Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Hyperbilirubinemia	OMIM:619075
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Lymphope...	OMIM:602450
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:2050
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Spondylolysis, Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs...	ORPHA:464321
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ...	OMIM:123000
Becker Nevus Syndrome	Lipoatrophy, Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib f...	ORPHA:64755
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Bifi...	OMIM:618419
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinin...	OMIM:608836
Hijazi-Reis Syndrome	Hyperbilirubinemia, Gait disturbance, Ankle clonus	OMIM:301094
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Calcino...	ORPHA:221016
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased ci...	ORPHA:556037
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie...	ORPHA:2769
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Abnormal d...	ORPHA:221008
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp...	OMIM:203400
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome...	OMIM:274000
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ...	ORPHA:3411
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri...	OMIM:617914
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Occipital Horn Syndrome	Genu valgum, Pes planus, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Increased total bilirubin	OMIM:174050
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased ci...	ORPHA:556030
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, ...	ORPHA:2491
46,Xy Sex Reversal 1	Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona...	OMIM:400044
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Anterior hypopi...	OMIM:602152
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s...	OMIM:248370
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Osteomalacia, Osteomyelitis, Weight loss, Arthritis, Elevated circulating C-reac...	OMIM:619381
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Broad-based gait, Hypotriglyceridemia, Decreased HDL cholesterol con...	ORPHA:14
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia...	ORPHA:94093
Mosaic Trisomy 14	Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans...	ORPHA:1703
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Splenomegaly, Hernia, Short neck,...	ORPHA:583
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Hennekam Syndrome	Narrow chest, Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology, Lymphopenia, ...	ORPHA:2136
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equinovarus, Short ...	OMIM:611209
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Postnatal growth retardation, Splenomegaly, Renal tubular acidosis, Dysme...	ORPHA:79240
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Hashimoto thyroiditis, Hypo...	ORPHA:64744
Tuberous Sclerosis Complex	Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Parathyroid adenom...	ORPHA:805
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Postnatal gro...	ORPHA:96184
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel...	ORPHA:440354
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase...	OMIM:603553
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hy...	OMIM:616507
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Generalized lipodystrophy, Micrognathia, Hyperlipidemia, Decrease...	OMIM:608612
Craniometadiaphyseal Dysplasia	Osteopenia, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis ...	OMIM:269300
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint...	OMIM:610442
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Talipes calcaneovalgus, Micrognathia, Conjugated hyperbilirubinemia, Thrombocytopenia, Hip dyspla...	OMIM:208085
Shwachman-Diamond Syndrome 1	Narrow chest, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Metaphyseal sclerosis...	OMIM:260400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Talipes calcaneovalgus, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Hip dy...	OMIM:613404
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp...	OMIM:618187
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Dec...	ORPHA:666
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesemia, Obesity, Decreased urina...	ORPHA:79102
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, P...	ORPHA:94080
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Genu valgum, Delayed ...	OMIM:620099
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Osteop...	OMIM:614880
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping ...	OMIM:616723
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Cranioectodermal Dysplasia 2	Rhizomelia, Narrow chest, Clinodactyly, Polysplenia, Hyperbilirubinemia, Micrognathia, Splenomega...	OMIM:613610
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b...	ORPHA:83
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci...	OMIM:616278
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Rheumatoid arthritis, Short iliac bones, Scoliosis, Lymphopenia, Sclerosis of skul...	OMIM:607944
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te...	OMIM:615866
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ...	OMIM:607634
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anemia, Increased blood urea nitrogen, ...	ORPHA:251004
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormal rib m...	ORPHA:2311
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ...	ORPHA:26793
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Failure to thrive in infancy, Adrenal cal...	ORPHA:51608
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Bowing of the long bone...	OMIM:130070
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of joint mobilit...	ORPHA:95699
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea...	ORPHA:1517
Noonan Syndrome 12	Spinal canal stenosis, Lymphopenia, 11 pairs of ribs, Thrombocytopenia, Pectus excavatum, Proxima...	OMIM:618624
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr...	ORPHA:2457
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Cognitive impairmen...	ORPHA:64743
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Hepatosplenomegaly, Micrognathia, Bell-shaped thorax, Decreased calvari...	OMIM:614592
Graft Versus Host Disease	Hemophagocytosis, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren contracture, Limit...	ORPHA:39812
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Elevated 8-dehydrocholesterol, 2-5 finger ...	OMIM:308050
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Short thorax, Hepatosplenomegaly, Short neck, Brach...	ORPHA:168577
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infections, Ele...	OMIM:613179
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Melnick-Needles Syndrome	Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Anterior concavi...	OMIM:309350
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te...	ORPHA:465508
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Radioulnar synos...	OMIM:245600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
22Q11.2 Deletion Syndrome	Cryptorchidism, Arachnodactyly, Hypoparathyroidism, Foot polydactyly, Polycystic kidney dysplasia...	ORPHA:567
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ...	OMIM:207410
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Increased body weight, Growth delay, Failure to thrive, Splenomegaly, Ren...	ORPHA:264580
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Proximal renal tubular acidosis, ...	OMIM:146255
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticu...	OMIM:232800
Interstitial Cystitis	Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur...	ORPHA:37202
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Hip dislocation, Capitate-hamate fusion, Toe syndac...	OMIM:206920
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Persistent open anterior fontanelle, Micrognathia, Spondylolist...	OMIM:265800
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P...	OMIM:619135
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Genu valgum, Leukoc...	OMIM:619321
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Platyspondy...	OMIM:616294
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Recurrent urinary tract infections, Hypocalcemic tetany, Decreased proportion ...	ORPHA:83471
Hurler Syndrome	Hypoplasia of the odontoid process, Hepatosplenomegaly, Hernia, Short neck, Diaphyseal undertubul...	OMIM:607014
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc...	ORPHA:73224
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs...	OMIM:200610
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Increased circulating androstenedione c...	OMIM:158330
Liver Disease, Severe Congenital	Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Hypocalcemia, Elevated hepatic i...	OMIM:619991
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral ...	OMIM:618188
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting,...	OMIM:264350
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Bifid scrotum, Microphallus, Ectrodactyly, Postnatal growth retardation, Intrau...	ORPHA:397590
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Bilateral cryptorchi...	ORPHA:96179
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Delayed closure of ...	OMIM:614886
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Cholera	Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Lethargy, Palmoplantar cutis laxa, Abnorma...	ORPHA:173
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal...	OMIM:302960
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan...	OMIM:166250
Nievergelt Syndrome	Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Radial head subluxation, Meta...	OMIM:163400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel morphology, Sprengel an...	ORPHA:2180
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Persistent open anterior fontanel...	OMIM:614866
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Nasu-Hakola Disease	Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphysis morphology, Bone cyst	ORPHA:2770
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba...	OMIM:169550
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, ...	OMIM:231070
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin...	ORPHA:1860
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias	OMIM:201710
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ...	OMIM:602196
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Abnormal circ...	ORPHA:2215
Autosomal Recessive Omodysplasia	Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Abnormal femur morphology, Micrognathia, He...	ORPHA:93329
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis...	OMIM:242900
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m...	OMIM:241600
Microphthalmia, Syndromic 9	Severe short stature, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Intrauterine gro...	OMIM:601186
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Internally rotated shoulders, Hepatosplenomegaly, Micrognathia, Reduced subcuta...	OMIM:619503
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Joint hypermobility, Sprengel anomaly, Abnorma...	ORPHA:2475
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,...	ORPHA:370930
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Marshall Syndrome	Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ...	OMIM:154780
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Obesity, Renal insufficiency, ...	OMIM:188400
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi...	OMIM:182212
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Enamel hypoplasia, Hypoplasia of the radius, H...	OMIM:212780
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Long pa...	ORPHA:2759
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Failure to thrive in infancy, Osteomyelitis, Abnormal circulating aldosterone, Gl...	ORPHA:171876
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometroco...	ORPHA:110
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Lipodystroph...	OMIM:212112
Lead Poisoning	Chronic kidney disease, Small for gestational age, Decreased male libido, Imbalanced hemoglobin s...	ORPHA:330015
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Unconjugat...	OMIM:613280
Xp21 Deletion Syndrome	Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Reduced bone mineral d...	ORPHA:261476
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia	ORPHA:195
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the vertebral column, Hyperbilirubinemia, Splenic cyst, Absces...	ORPHA:400
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm...	ORPHA:320
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:79085
Hurler Syndrome	Abnormal vertebral morphology, Depression, Abnormal epiphysis morphology, Limitation of joint mob...	ORPHA:93473
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen...	OMIM:618892
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Thin ribs, ...	ORPHA:2463
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Charge Syndrome	Bifid femur, Short thumb, Abnormal rib morphology, Umbilical hernia, Lymphopenia, Micrognathia, H...	OMIM:214800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi...	OMIM:614091
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-pos...	OMIM:611926
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin...	ORPHA:29073
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:619313
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morp...	ORPHA:3068
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l...	ORPHA:276621
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Bilateral single transverse palmar ...	ORPHA:1116
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo...	OMIM:601812
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Abnormal hip bone morphology, Epi...	ORPHA:584
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret...	OMIM:616113
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Narrow chest, Dentinogenesis imperfecta, Micromelia, Delayed cranial sutu...	OMIM:610682
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi...	ORPHA:2347
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly...	ORPHA:1318
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp...	ORPHA:99413
Mosaic Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp...	ORPHA:99226
Turner Syndrome	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Renal hyp...	ORPHA:881
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Micrognathia, Decreased calvarial ossification, Brachydactyly, Cran...	OMIM:618265
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar...	ORPHA:536467
Tetragametic Chimerism	Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t...	ORPHA:199310
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Hyperbilirubinemia, Hernia, Pes cavus	ORPHA:101009
Familial Hypoaldosteronism	Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, ...	ORPHA:427
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Abnormal circulating lipid concentration, Joint stiffness, Hyperlipopro...	ORPHA:1979
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Pes planus, Hip d...	ORPHA:84
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Umbilical hernia, Joint stiffness, Abnormal cort...	ORPHA:93
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Talipes equinovaru...	OMIM:253220
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, D...	ORPHA:544482
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Monosomy 13Q34	Postaxial foot polydactyly, Growth delay, Obesity, Metrorrhagia, Fetal pyelectasis, Postaxial han...	ORPHA:96168
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, Gr...	ORPHA:469
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil...	ORPHA:91349
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Recurrent fractures, Micrognathia, Wrist flexion cont...	OMIM:609465
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Cryptorchidism, Hypocalcemia	OMIM:192430
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of f...	OMIM:616738
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Slender long bone, Upper limb undergrowth, Micrognathia, Joint hypermobility, Pectus ...	ORPHA:369837
Trisomy 13	Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Bila...	ORPHA:3378
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Overlapping fingers, Intrauterine growth retardation, B ...	OMIM:615966
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn...	ORPHA:1120
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Parathyroid...	OMIM:145980
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l...	ORPHA:29072
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Micropenis, Rectovaginal fistula, Hypospadias, Septate vagi...	OMIM:243800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, B lymphocytope...	OMIM:601457
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ...	OMIM:617241
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Akinesia, Micrognathia, Increased susceptibility to f...	OMIM:253290
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Micrognathia, Bell-shaped thorax, Horizont...	OMIM:614857
Adrenomyodystrophy	Short stature, Primary adrenal insufficiency, Reduced bone mineral density, Failure to thrive	ORPHA:977
Spinocerebellar Ataxia-Dysmorphism Syndrome	Slender long bone, Joint hypermobility, Short stature, Spina bifida occulta, Reduced bone mineral...	ORPHA:1185
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:241200
Renpenning Syndrome	Joint stiffness, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodacty...	ORPHA:3242
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy second...	OMIM:269500
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Narrow chest, Increased skull ossification, Micromelia, B...	ORPHA:1422
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Hypoplasti...	OMIM:611717
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Developmental Malformations-Deafness-Dystonia Syndrome	Mental deterioration, Hypoplastic scapulae, Micromelia, Femoral retroversion, Scoliosis, Kyphosis	ORPHA:79107
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Genu valgum, Pancytopenia, Short neck, Bilateral coxa valga, Ataxia, Bilatera...	ORPHA:309282
Degcags Syndrome	Toe syndactyly, Hepatosplenomegaly, Genu valgum, Hyperbilirubinemia, Pancytopenia, Micrognathia, ...	OMIM:619488
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Short 4th metacarpal	OMIM:606220
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Solitary Fibrous Tumor	Uterine neoplasm, Urinary retention, Vaginal neoplasm, Hypophosphatemic rickets, Prostate cancer,...	ORPHA:2126
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Straight clavicles, Short metatarsal, Short...	OMIM:113300
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Shwachman-Diamond Syndrome	Aplastic anemia, Abnormal joint morphology, Pancytopenia, Increased serum bile acid concentration...	ORPHA:811
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Broad-based gait, Sandal gap, Umbilical hernia, Hypocalcemia, Emotional labilit...	OMIM:620330
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Ulnar deviat...	OMIM:142900
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Slender long bone, Clinodactyly, Lumbar hyperlordo...	OMIM:612921
Ogden Syndrome	Delayed cranial suture closure, Hyperbilirubinemia, Micrognathia, Short neck, Minimal subcutaneou...	OMIM:300855
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Abscess, Splenomegaly, Flarin...	OMIM:612852
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:435651
Mirage Syndrome	Scoliosis, Hyperkalemia, Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Hyponatr...	OMIM:617053
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Abnormal circulating calcium-phosphate regulating hormone concentr...	ORPHA:1031
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Deep plantar creases, Camptodactyly of finger, Microg...	ORPHA:96061
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Genu...	OMIM:600373
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Lethal Congenital Contracture Syndrome 10	Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Micrognathia, Thoracic...	OMIM:617022
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Hypoplasia of the capital femoral epiphysis, Hy...	OMIM:313400
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, ...	OMIM:312150
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Irritability	OMIM:613070
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Renal salt wasting...	OMIM:613743
Leopard Syndrome 1	Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Limited elbow ...	OMIM:151100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Van Maldergem Syndrome 1	Osteopenia, Narrow chest, Clinodactyly, Tracheomalacia, Abnormal foot morphology, Cutaneous finge...	OMIM:601390
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva...	ORPHA:284426
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Broad-based gait, Broad thumb, Small hand, Slender finger, Broad hallux, Abnormal hip...	ORPHA:251028
9Q31.1Q31.3 Microdeletion Syndrome	Small hand, Cervical kyphosis, Short clavicles, Short neck, Hypercholesterolemia, Tapered finger	ORPHA:401923
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells, Lymphopenia, ...	ORPHA:1830
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Cubitus valgus, Short neck, D...	ORPHA:1340
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Multiple rib fractures, Femur fracture, Osteop...	OMIM:612301
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Genu valgum, Hyperbilirubinemia, Emotional lability, Talipes equinovarus, Cogni...	OMIM:619475
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,...	ORPHA:2658
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral b...	ORPHA:3079
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Talipes equinovarus, Cognitive impairm...	ORPHA:2970
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
X-Linked Intellectual Disability, Nascimento Type	Clubbing of toes, Neonatal hyperbilirubinemia, Overlapping toe, Pes cavus, Lower extremity joint ...	ORPHA:163956
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis...	OMIM:231095
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Abnormal thorax morphology, ...	ORPHA:508542
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity	ORPHA:1765
Aspergillosis	Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone morphology, Eosinophilia, ...	ORPHA:1163
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip disloc...	ORPHA:453510
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Irritability, Increased serum bile acid concentration	OMIM:619685
Glycogen Storage Disease Xii	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat...	OMIM:611881
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urine output, ...	ORPHA:31826
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, L...	ORPHA:466650
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Hypoplastic iliac w...	OMIM:225500
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Abnormal sternum...	OMIM:109400
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hypermobility, R...	OMIM:620210
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Van Maldergem Syndrome 2	Osteopenia, Narrow chest, Cutaneous syndactyly of toes, Clinodactyly, Tracheomalacia, Cutaneous f...	OMIM:615546
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Failure to thrive...	OMIM:606367
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Broad foot, Short neck, Short foot, Short toe, Horizontal ribs, Inguinal he...	OMIM:269860
Beta-Thalassemia	Abnormality of iron homeostasis, Cholelithiasis, Hypogonadotropic hypogonadism, Reduced bone mine...	ORPHA:848
Alg9-Cdg	Rhizomelia, Hypoplasia of the bladder, Flared metaphysis, Abnormal renal artery morphology, Hydro...	ORPHA:79328
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Marshall-Smith Syndrome	Slender long bone, Failure to thrive, Increased susceptibility to fractures, Joint hypermobility,...	ORPHA:561
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Hernia, Cognitive impairment,...	ORPHA:2092
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Short distal phalanx of finger, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Congenital Myopathy 22B, Severe Fetal	Spinal rigidity, Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoraci...	OMIM:620369
Dystonia-Deafness Syndrome 1	Loss of ambulation, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis	OMIM:607371
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Finger syndactyly, Micrognathia, Cognitive impairment, Symphalangis...	ORPHA:2990
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr...	OMIM:201910
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Abnormal odontoid tissue morphology, Beaking of vertebral bodies...	ORPHA:79255
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ...	OMIM:166220
Osteootohepatoenteric Syndrome	Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid...	OMIM:619377
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Femoral bowing, Increased susceptibility to fractures, Bic...	OMIM:166200
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Werner Syndrome	Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia, Short stature, Osteoporosis, Reduced...	OMIM:277700
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Joint stiffness, Micrognathia, Split hand...	ORPHA:1300
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po...	ORPHA:453533
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Prominent floating ribs, Pedal edema	OMIM:152800
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red...	OMIM:266200
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Abnormality of the ovary, Decreased testi...	OMIM:209900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, 2-3 toe syndactyly, Kyphoscoliosis, Scoliosis	ORPHA:391307
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Kagami-Ogata Syndrome	Thin ribs, Micrognathia, Bell-shaped thorax, Splenomegaly, Inguinal hernia, Kyphoscoliosis, Limb ...	OMIM:608149
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Spina bifida occulta, Genu valgum, Reduced bone mineral density	ORPHA:2983
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydactyly, Short lo...	ORPHA:420794
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Micrognathia, Arachnodactyly, Talipes equinovarus...	OMIM:300373
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebra...	ORPHA:581
Leprechaunism	Clitoral hypertrophy, Long penis, Central hypothyroidism, Nephrocalcinosis, Failure to thrive, Ov...	ORPHA:508
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Cholelithiasis, Hypogonadism, Adrenal insufficiency,...	ORPHA:231222
Congenital Erythropoietic Porphyria	Osteopenia, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Abnormal circulat...	ORPHA:79277
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Lymphopenia, Splenomegaly, Lipodystrophy, Arthritis, Hypertriglyceridemia, Anemi...	OMIM:617591
Car T Cell Therapy-Associated Cytokine Release Syndrome	Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Anemia of inadequate production, Radioul...	OMIM:614900
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal epiphysis morphology, Joint stiffness, Abnorma...	ORPHA:2588
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Knee flexion contracture, Hip contracture	OMIM:620232
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Rib fusion, Hand po...	ORPHA:261197
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Ge...	OMIM:619127
Gapo Syndrome	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Abnormal clavicle morphology, Ab...	ORPHA:2067
Enlarged Parietal Foramina	Short clavicles, Craniosynostosis, Broad thumb	ORPHA:60015
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Nestor-Guillermo Progeria Syndrome	Thin ribs, Lipoatrophy, Microretrognathia, Pathologic fracture, Joint stiffness, Mandibular osteo...	OMIM:614008
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:602522
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anemia, Reduced c...	OMIM:611489
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Splenomegaly	OMIM:235555
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel...	ORPHA:572
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Patellar hypoplasia, Obesity, Cryptorchidism, Pseudohypoparathyroidism, Brachydactyly, Short four...	ORPHA:464288
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Tip-toe gait, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hy...	ORPHA:3008
Kinsship Syndrome	Osteopenia, Cervical ribs, Sacral dimple, Micrognathia, Single transverse palmar crease, Polydact...	OMIM:619297
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Growth delay...	OMIM:263800
Radio-Renal Syndrome	Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hypoplasia of the ra...	ORPHA:3015
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Clinodactyly, Abnormal circulating lipid concentration, Lymphopenia, Pes cavus,...	OMIM:616541
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Hypoplastic labia majo...	OMIM:119500
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Long clavicles, Splenopanc...	OMIM:269150
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c...	ORPHA:199
Orofaciodigital Syndrome X	Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly	OMIM:165590
Marbach-Rustad Progeroid Syndrome	Micrognathia, Reduced subcutaneous adipose tissue, Short clavicles, Wormian bones, Femur fracture...	OMIM:619322
Agammaglobulinemia, X-Linked	Septic arthritis, Recurrent urinary tract infections, Lymph node hypoplasia, Prostatitis, Neutrop...	OMIM:300755
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Short stature, Micropenis, Hypoplasia of the uterus, Hy...	OMIM:309801
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Difficulty walking, Elbow flexion contracture, Joint stiffness, Pes cavus, ...	OMIM:252940
Proteus-Like Syndrome	Thymus hyperplasia, Hyperostosis, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Vertebral se...	ORPHA:52
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Hyperkalemia, Hypernatriuria, Failure to thrive, Adrenal calcification, Abnor...	ORPHA:275761
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Clubbing, Male infertility	ORPHA:244
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Plantar pits, Vertebral wedging, Abnormal rib morphol...	ORPHA:377
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Autoimmune Hepatitis	Depression, Splenomegaly, Arthritis, Increased total bilirubin	ORPHA:2137
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:177735
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Cryptorchidism, Limited elbow movement, Decreas...	OMIM:261540
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,...	ORPHA:288
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Lymphopenia, Autoimmu...	OMIM:102700
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Hypergonadotropic hypogonadism	ORPHA:1399
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Pes planus, Beaking of vertebral ...	OMIM:213980
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Abnormal fallopian tub...	ORPHA:722
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Missing ribs, Abnormal rib morphology, Tet...	ORPHA:3301
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Hepatosplenomegaly, Micrognathia, Butterfly vertebrae,...	ORPHA:263508
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Williams Syndrome	Synostosis of joints, Genu valgum, Micrognathia, Radioulnar synostosis, Pes planus, Ataxia, Patel...	ORPHA:904
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Flared metaphysis, Delayed cranial suture closure, Elbow flexion contracture, Hy...	OMIM:151050
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse...	OMIM:263650
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
Sarcoidosis	Abnormal lymph node morphology, Abnormal reproductive system morphology, Weight loss, Tubulointer...	ORPHA:797
Intrahepatic Cholestasis Of Pregnancy	Depression, Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, ...	OMIM:612260
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Trisomy 1Q	Toe syndactyly, Microretrognathia, Abnormal rib morphology, Preaxial hand polydactyly, Camptodact...	ORPHA:261344
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Lethargy, Refractory sideroblastic anemia...	OMIM:557000
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio...	OMIM:617780
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Hypocalciuria, Clinodactyly of the 2nd finger, Hypophosphaturia, Clinodactyly of the ...	ORPHA:73223
Noonan Syndrome 14	Pectus carinatum, Clinodactyly, Lymphopenia, Limited elbow extension, Cubitus valgus, Pes valgus,...	OMIM:619745
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Talipes equinovarus, Short neck, Sh...	OMIM:616145
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Inability to walk, Hemolytic anemia, Splenomegaly, Ataxia, Hyperkalemia, Conjugat...	OMIM:608885
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Pate...	OMIM:218600
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes...	OMIM:269700
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Reduced bone mineral density, Recurrent fractures, Joint hypermobility	OMIM:619115
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Joint stiffness, Streak ovary, Crypto...	OMIM:618820
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Splenomegaly, Kyphoscoliosis, Hernia, Ovoid thoracolumbar vertebrae, Beaking of ...	OMIM:252930
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:79302
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Spinal canal stenosis, Join...	OMIM:608328
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Mesomelia-Synostoses Syndrome	Mesomelia, Abnormal vertebral morphology, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia, Pes cavus	OMIM:609727
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir...	OMIM:617093
Bloom Syndrome	Postnatal growth retardation, Azoospermia, Clinodactyly of the 5th finger, Type II diabetes melli...	OMIM:210900
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos...	ORPHA:3404
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin...	ORPHA:3027
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, S...	OMIM:619479
Vici Syndrome	Failure to thrive, Lymphopenia, Leukopenia, Postnatal growth retardation, Decreased proportion of...	OMIM:242840
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Int...	ORPHA:3206
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Broad ribs, Hepatosplenomegaly, Genu valgum, Broad long bone diaphyses, Limited...	OMIM:301066
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Polycystic ovaries, Nep...	OMIM:608594
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Inguinal hernia, Single transverse palmar...	ORPHA:254528
Tibial Hemimelia	Absent tibia	OMIM:275220
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Micrognathia, Delayed closure of ...	OMIM:614887
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Irritability, Pe...	OMIM:618278
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, T lym...	ORPHA:35078
Sifrim-Hitz-Weiss Syndrome	Gait imbalance, Short clavicles, Wormian bones, Tapered finger, Flat acetabular roof, Short femor...	OMIM:617159
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Increased connective tissue, Adducted thumb, Multiple pren...	ORPHA:171430
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Short stature, Reduced bone miner...	OMIM:112240
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Irritability	ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Lethargy, Hypertyrosinemia, Conjugated h...	OMIM:617156
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Rhizomelia, Narrow chest, Brain abscess, Lumbar hyperlordosis, Femoral bowing, Tib...	OMIM:616482
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hand polydacty...	OMIM:314390
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Abnormal shoulder morphology, Joint hypermobility, Arachn...	ORPHA:2115
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Congenital diaphr...	ORPHA:887
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Tal...	ORPHA:280
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Mi...	ORPHA:1507
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Inguinal hernia, Postaxial ...	OMIM:181450
Fumarase Deficiency	Hyperbilirubinemia, Polycythemia, Reduced subcutaneous adipose tissue	OMIM:606812
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Sclerosis of skull base, Increased intervertebral ...	OMIM:619727
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Splenomegaly	OMIM:613812
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Growth delay, Ectopic anterior pituitary gland, Hypopitu...	ORPHA:90695
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Midline central ...	ORPHA:1827
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs...	OMIM:603116
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Postnatal growth retardation, Cryptorchidism, Renal...	ORPHA:709
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Congenital hip dislocation, Platyspondyly, Joint di...	OMIM:225400
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Restrictive Dermopathy 2	Short clavicles, Microretrognathia, Overtubulated long bones	OMIM:619793
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende...	OMIM:234100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Osteopenia, Broad thumb, Knee dislocation, Increased circulating ferritin concen...	OMIM:619534
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Short attention span, Abnormal rib morphology	ORPHA:280195
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Joint stiffness, Splenomegaly, Thickened ribs, Inguinal hernia, Ovoid thoracolu...	OMIM:252900
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
X Small Rings	Toe syndactyly, Growth delay, Upper limb undergrowth, Lower limb undergrowth, Joint hypermobility...	ORPHA:96201
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia,...	ORPHA:231580
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Broad foot, Tali...	ORPHA:373
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Hardikar Syndrome	Umbilical hernia, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Irritabili...	OMIM:301068
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Pheochromocytoma	Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery stenosis, Proteinuria, Hype...	OMIM:171300
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s...	OMIM:214700
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density, Short stature	ORPHA:2720
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the...	ORPHA:2538
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Abnormal clavicle morphology, Delayed cranial suture...	ORPHA:85199
Monosomy 9Q22.3	Palmar pits, Plantar pits, Abnormality of the vertebral column, Abnormal rib morphology, Umbilica...	ORPHA:77301
Pallister-Hall Syndrome	Postaxial foot polydactyly, Toe syndactyly, Distal shortening of limbs, Radial head subluxation, ...	OMIM:146510
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Increased susceptibility to fr...	OMIM:619752
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft...	ORPHA:423
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Progressive neurologic deterioratio...	OMIM:252920
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Congenital d...	ORPHA:818
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Coccidioidomycosis	Atypical scarring of skin, Granuloma, Abnormality of the vertebral column, Abnormality of the spl...	ORPHA:228123
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Clinodactyly, Micrognathia, Single transverse palmar crease, Thoracic scoliosis, Ap...	OMIM:620186
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Slender long bone, Camptodac...	ORPHA:2554
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-inse...	ORPHA:251274
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Os...	ORPHA:186
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Pes cavus, Gait ataxia, Hiatus hernia, Carpal bone hypopl...	OMIM:601162
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Short foot, Long fingers, Unilateral ...	OMIM:614527
Trisomy 18	Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnorma...	ORPHA:3380
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr...	ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Reduced natural killer cell count, T lymphocytopenia, Failure to thrive	OMIM:242860
Birt-Hogg-Dubé Syndrome	Medullary thyroid carcinoma, Parathyroid adenoma	ORPHA:122
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t...	ORPHA:84081
Sweeney-Cox Syndrome	Short distal phalanx of finger, Narrow chest, Micrognathia, 2-4 finger syndactyly, Short clavicle...	OMIM:617746
Endocrine-Cerebroosteodysplasia	Narrow chest, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Tibial ...	OMIM:612651
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Dysuria, Urinary hesitancy, Fol...	ORPHA:556
Myhre Syndrome	Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Shor...	OMIM:139210
Neurooculorenal Syndrome	Short 1st metacarpal, Micrognathia, Talipes equinovarus, Short hallux, Conjugated hyperbilirubinemia	OMIM:620305
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Aicardi Syndrome	Block vertebrae, Small hand, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, M...	ORPHA:50
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Decreased proportion of CD8-p...	OMIM:615607
Williams-Beuren Syndrome	Radioulnar synostosis, Osteopenia, Failure to thrive in infancy, Obesity, Early onset of sexual m...	OMIM:194050
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:268150
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Pectus carinatum, Tracheomalacia, Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Microg...	OMIM:620654
Reynolds Syndrome	Palmar telangiectasia, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis	OMIM:613471
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pectus carinatum, Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenom...	OMIM:612541
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia, Arthritis, Thromb...	OMIM:620376
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in upper limbs, Abnormality of the foot musculature, Difficul...	ORPHA:169189
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Small hand, Severe B lymphocytopenia, Delayed cranial suture closure, Lymphopen...	OMIM:620005
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Elbow flexion contracture, Clubbi...	OMIM:256040
Gm1-Gangliosidosis, Type I	Joint stiffness, Splenomegaly, Thickened ribs, Inguinal hernia, Hypoplastic vertebral bodies, Sho...	OMIM:230500
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Nijmegen Breakage Syndrome	Sandal gap, Recurrent urinary tract infections, Intrauterine growth retardation, Autoimmune hemol...	OMIM:251260
Microsporidiosis	Nephritis, Lymphadenitis, Abnormality of the parathyroid gland, Brain abscess, Urethritis, Abnorm...	ORPHA:2552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large ...	OMIM:615398
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Umbilical...	OMIM:136140
Wolf-Hirschhorn Syndrome	Micrognathia, Radioulnar synostosis, Talipes equinovarus, Short hallux, Hip dislocation, Preaxial...	OMIM:194190
Meckel Syndrome 14	Postaxial foot polydactyly, Decreased calvarial ossification, Bowing of the long bones, Aplasia o...	OMIM:619879
Caroli Disease	Conjugated hyperbilirubinemia, Splenomegaly, Liver abscess, Leukocytosis	ORPHA:53035
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Short attention span, Short humerus, Polydactyly, Unsteady gait, Methylmalon...	ORPHA:17
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Acute leukemia, Synostosi...	ORPHA:289
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion contracture, Dysmetria, Ataxia, Bila...	OMIM:619708
Sotos Syndrome	Abnormal vertebral morphology, Hip contracture, Talipes equinovarus, Pes planus, Large hands, Acu...	ORPHA:821
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Inguinal her...	ORPHA:254519
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Camptodactyly ...	ORPHA:217093
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus, ...	OMIM:264090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Camptodactyly ...	ORPHA:217085
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal...	ORPHA:322
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperi...	ORPHA:79474
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas...	ORPHA:83628
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Subcutaneous lipoma, Broad phalanx of the...	ORPHA:79076
Limb-Mammary Syndrome	Absent nipple, Toe syndactyly, Breast aplasia, Oligodactyly, Aplasia of the ovary, Aplasia of the...	ORPHA:69085
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Inguinal hernia, Rib fusion, Attention deficit hyperactivity disorder, Clinodactyly ...	ORPHA:544488
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ...	ORPHA:416
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Congenital diaphragmatic herni...	OMIM:616546
Spinal Cord Injury	Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Synovitis, Ataxia, Irregular sclerotic endplates, Osteopenia...	ORPHA:3455
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia	OMIM:218700
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Monosomy 9P	Limitation of joint mobility, Abnormality of the vertebral column, Abnormal rib morphology, Abnor...	ORPHA:261112
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Khan-Khan-Katsanis Syndrome	Clinodactyly, Lymphopenia, Corneal scarring, Micrognathia, Postaxial polydactyly, Delayed closure...	OMIM:618460
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab...	ORPHA:2907
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Joint dislocation, Finger syndactyly, Micromelia, Camptodactyly ...	ORPHA:2753
Helix Syndrome	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypoka...	OMIM:617671
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Spina bifida occulta, Rectovagi...	OMIM:617466
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Ataxia, Decre...	ORPHA:760
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Intrauter...	OMIM:614083
Lethal Congenital Contracture Syndrome 5	Thin ribs, Flexion contracture, Congenital contracture, Elevated circulating creatine kinase conc...	OMIM:615368
Floating-Harbor Syndrome	Broad-based gait, Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:2044
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hiatus hernia...	OMIM:304050
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Transient neutropenia, Abnormal...	ORPHA:500095
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Granuloma	ORPHA:562639
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Splenomegaly, Horizontal ribs, Aplasia of the epiglottis, Po...	OMIM:617088
Fetal Akinesia Deformation Sequence 1	Thin ribs, Congenital contracture, Slender long bone, Thoracic hypoplasia, Camptodactyly of finge...	OMIM:208150
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Abnormal rib morphology, Abnormal foot mor...	ORPHA:1666
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Micrognathia, Kyphoscol...	ORPHA:97360
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2908
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ...	OMIM:107480
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Growth delay	OMIM:616433
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Overlapping toe, Contracture of the distal interphalangeal j...	ORPHA:83617
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Hernia, Short neck, Sprengel anomaly, He...	ORPHA:1394
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:30391
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Shor...	OMIM:229850
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc...	ORPHA:567983
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m...	OMIM:305600
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria, Radial bowing	OMIM:617993
Alagille Syndrome 1	Short distal phalanx of finger, Abnormal rib morphology, Hypercholesterolemia, Hypoplasia of the ...	OMIM:118450
Oeis Complex	Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Ambiguous ...	OMIM:258040
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Polycythemia, Abnormal pancreas morphology, Adrenocortical cytomegal...	ORPHA:116
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Missing ribs, R...	OMIM:271520
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Fusion of middle ear ossicles, Carpal synostosis, Herniation of interverte...	OMIM:157800
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Restrictive Dermopathy 1	Rocker bottom foot, Overtubulated long bones, Increased anterioposterior diameter of thorax, Micr...	OMIM:275210
1P36 Deletion Syndrome	Scoliosis, Lower limb asymmetry, Camptodactyly of finger, Delayed cranial suture closure, Abnorma...	ORPHA:1606
Charge Syndrome	Bifid femur, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Talipes, Attention deficit...	ORPHA:138
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Broad hallux, Aplasia of the vagina, Joint hypermobility, Postaxial po...	ORPHA:457284
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Abnormal reproductive system morphology, Bifid uterus, Craniosynostosis, Un...	ORPHA:1521
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Asymmetry of the thorax, Cone-shaped epiphysis, Aplasia o...	OMIM:619841
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt...	OMIM:615688
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Bone cyst, Generalized lymphadeno...	OMIM:181000
Zttk Syndrome	Small hand, Cervical ribs, Joint hypermobility, Rib fusion, Hemivertebrae, Craniosynostosis, Flex...	OMIM:617140
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Microgn...	ORPHA:444077
Pontine Tegmental Cap Dysplasia	Dysmetria, Ankle clonus, Rib fusion, Hemivertebrae, Ataxia, Scoliosis	OMIM:614688
Arima Syndrome	Nephronophthisis, Postaxial foot polydactyly, Growth delay, Stage 5 chronic kidney disease, Renal...	OMIM:243910
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Irritability, Short humerus, Short femur	OMIM:618367
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Micrognathia, Short neck, Abnormal metacarpal morphology, Absent radius, Syndactyly...	OMIM:268300
Neurofibromatosis, Type I	Pheochromocytoma, Tibial pseudarthrosis, Genu valgum, Parathyroid adenoma, Short stature	OMIM:162200
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint...	ORPHA:740
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Joint dislocation, Umbilical hernia, Abnormal dental enamel mor...	ORPHA:3310
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Pseudo-Torch Syndrome 2	Thin ribs, Lethargy, Thrombocytopenia	OMIM:617397
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Cardiac-Urogenital Syndrome	Accessory spleen, Tracheomalacia, Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of t...	OMIM:618280
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Aplasia/Hypoplasia of the pat...	OMIM:135900
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Restrictive Dermopathy	Thin ribs, Osteopenia, Structural foot deformity, Camptodactyly of finger, Increased anterioposte...	ORPHA:1662
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomega...	ORPHA:2729
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd...	ORPHA:857
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Uterine rupture, Cystocele, Metacar...	OMIM:130050
Cystic Fibrosis	Failure to thrive, Hepatosplenomegaly, Hypercalciuria, Male infertility, Clubbing of fingers	OMIM:219700
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture	OMIM:614833
Cushing Disease	Depression, Memory impairment, Lymphopenia, Dorsocervical fat pad, Leukocytosis, Vertebral compre...	ORPHA:96253
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Failure to thrive, Obesity, Intrauterine growth retardation, Pseu...	OMIM:617157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Joint hypermobility, Arachn...	ORPHA:500150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Broad distal phalanx of finger, Joint hypermobility, Hypercalciuria, Elliptocyt...	OMIM:300990
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology, Inguinal hernia	OMIM:600057
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio...	OMIM:206900
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Umbilical hernia, Wide pubic symphysis, Vertebral segmentation...	ORPHA:2052
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Renal agenesis, Finger syndactyly, Clinodactyly, R...	OMIM:256520
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Pes cavus, Rib fusion, Delayed closu...	OMIM:607872
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Enamel hypoplasia	OMIM:300896
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Joint hypermobility	OMIM:300219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia, Omphalocele, Umbilical hernia	ORPHA:254534
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Norrie Disease	Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti...	ORPHA:649
Loeys-Dietz Syndrome	Uterine rupture, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Craniosynostosis	ORPHA:60030
Microphthalmia, Syndromic 1	Joint contracture of the hand, Narrow chest, Prominent fingertip pads, Clinodactyly, Radial devia...	OMIM:309800
Pallister-Killian Syndrome	Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Cryptorchidism, Hypo...	OMIM:601803
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Joint h...	ORPHA:286
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Congenital diaphragmatic hernia, Omphalo...	ORPHA:991

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.

Phenotype	Allele	Zygosity	Life Stage
Knee joint - MPATH pathological process term developmental dysplasia	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Sternum - MPATH pathological process term fibro-osseous lesion	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
Sternum - MPATH pathological process term hyperplasia	Cyp27b1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult

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 Cyp27b1.

No publications found that use IMPC mice or data for Cyp27b1.

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MGI Allele	Allele Type	Produced
Cyp27b1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cyp27b1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cyp27b1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Cyp27b1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cyp27b1 MGI:1098274

Gene Summary

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Phenotypes

lacZ Expression

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Human diseases caused by Cyp27b1 mutations

Histopathology

IMPC related publications

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