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Gene: Phex MGI:107489

Gene Summary

Name:

phosphate regulating endopeptidase homolog, X-linked

Synonyms:

HPDR1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal bone mineralization	Phex^{not yet available}	HOM	Early adult	1.11×10^-09
decreased circulating calcium level	Phex^{not yet available}	HOM	Early adult	8.09×10^-07
decreased body weight	Phex^{not yet available}	HOM	Early adult	4.39×10^-08
abnormal vertebrae morphology	Phex^{not yet available}	HOM	Early adult	4.04×10^-08
decreased blood urea nitrogen level	Phex^{not yet available}	HOM	Early adult	6.65×10^-09
abnormal ulna morphology	Phex^{not yet available}	HOM	Early adult	5.74×10^-11
	Phex^{not yet available}	HOM	Early adult	5.95×10^-06
decreased circulating phosphate level	Phex^{not yet available}	HOM	Early adult	4.45×10^-08
decreased circulating triglyceride level	Phex^{not yet available}	HOM	Early adult	3.55×10^-05
abnormal tail morphology	Phex^{not yet available}	HOM	Early adult	5.95×10^-06
abnormal body size	Phex^{not yet available}	HOM	Early adult	5.95×10^-06
increased bone mineral content	Phex^{not yet available}	HOM	Early adult	3.10×10^-07
abnormal vertebral arch morphology	Phex^{not yet available}	HOM	Early adult	4.04×10^-08
abnormal tibia morphology	Phex^{not yet available}	HOM	Early adult	5.74×10^-11
thin tail	Phex^{not yet available}	HOM	Early adult	5.95×10^-06
increased circulating potassium level	Phex^{not yet available}	HOM	Early adult	4.40×10^-06
increased total body fat amount	Phex^{not yet available}	HOM	Early adult	4.36×10^-05
abnormal tail movements	Phex^{not yet available}	HOM	Early adult	2.36×10^-06
decreased circulating amylase level	Phex^{not yet available}	HOM	Early adult	1.08×10^-08
decreased body length	Phex^{not yet available}	HOM	Early adult	5.04×10^-11
decreased bone mineral density	Phex^{not yet available}	HOM	Early adult	5.61×10^-05
increased circulating alkaline phosphatase level	Phex^{not yet available}	HOM	Early adult	4.78×10^-14
abnormal joint morphology	Phex^{not yet available}	HOM	Early adult	5.74×10^-11
abnormal radius morphology	Phex^{not yet available}	HOM	Early adult	5.74×10^-11
decreased heart weight	Phex^{not yet available}	HOM	Early adult	1.97×10^-10

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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.

Phenotype associated images not available

Human diseases caused by Phex 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 Phex (2 diseases)
Human diseases predicted to be associated with Phex (2279 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypophosphatemic Rickets, X-Linked Dominant		Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
X-Linked Hypophosphatemia		Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936

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

Disease	Matching phenotypes	Source
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal...	ORPHA:93160
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the lower limb, Rickets, Renal phosphate wasting, Hypophosphatemia, ...	OMIM:193100
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c...	OMIM:241530
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Spondylometaphyseal Dysplasia, Corner Fracture Type	Waddling gait, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari...	OMIM:184255
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse...	ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,...	OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Upington Disease	Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o...	ORPHA:3408
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst	ORPHA:2668
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca...	OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl...	OMIM:618395
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c...	OMIM:612089
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Hyperparathyroidism 4	Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Broad-based gait, C...	OMIM:616716
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino...	OMIM:267200
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper...	ORPHA:140286
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,...	OMIM:171480
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon...	OMIM:617974
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula...	OMIM:600740
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Small hand, T...	ORPHA:93324
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,...	OMIM:605274
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypophosphatemic rickets, Sclerotic ve...	ORPHA:289176
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Smith-Magenis syndrome	Hyperactivity, Short stature, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypoglycemia, Nephrocalcinosis, ...	OMIM:616026
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t...	ORPHA:1901
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Waddling gait, Thoracolumbar scoliosis, Knee flexion contracture, Hy...	OMIM:606631
Gurrieri Syndrome	Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast...	OMIM:601187
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Facial palsy, Hearing impairment, Recurrent fractures, Carious teet...	ORPHA:53
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to...	OMIM:602722
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Renal insufficiency, Polyuria, Xerostomia, Hypermagnesemia, Neph...	OMIM:617671
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Barrel...	ORPHA:94068
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab...	ORPHA:2635
Axial Osteomalacia	Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co...	OMIM:109130
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical...	ORPHA:3416
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo...	OMIM:603233
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos...	OMIM:203330
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ...	ORPHA:1988
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios...	ORPHA:2611
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip...	OMIM:619795
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di...	ORPHA:50811
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, A...	OMIM:615883
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hypercalcemia, Micrognathia...	OMIM:156400
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ...	ORPHA:99642
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susc...	OMIM:146300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl...	OMIM:613091
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Joint ...	OMIM:132400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Pyle Disease	Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu...	OMIM:265900
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the vertebral column, Hypercalcemia, Coxa valga	OMIM:191420
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat...	OMIM:222765
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:168400
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi...	ORPHA:958
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re...	OMIM:612780
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th...	OMIM:620076
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Rickets, Hypercalc...	ORPHA:2088
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,...	OMIM:271650
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis...	ORPHA:93308
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Otoonychoperoneal Syndrome	Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Hypomagnesemia, Small hand, Thin ribs, Short foot, Sl...	OMIM:244460
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ...	ORPHA:97289
Seckel Syndrome 1	Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h...	OMIM:210600
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to th...	OMIM:611590
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt...	OMIM:600204
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification ...	OMIM:208500
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con...	ORPHA:1159
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in...	ORPHA:405
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,...	OMIM:602557
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Delay...	OMIM:600969
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr...	ORPHA:2557
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Rickets, Hypercalciuria, G...	OMIM:227810
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Tyrosinemia Type 1	Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro...	ORPHA:280062
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms, Short stature	OMIM:300271
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum...	ORPHA:294975
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl...	OMIM:106300
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s...	ORPHA:793
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Decreased sku...	ORPHA:2097
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo...	OMIM:263800
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Atelosteogenesis Type Iii	Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Obesity, Hyperphosphatemia, Hypocal...	OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Hypokalemia, Aminoaciduria,...	ORPHA:213
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, H...	ORPHA:56304
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Metachondromatosis	Abnormal joint morphology, Bowing of the long bones	OMIM:156250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Short ne...	ORPHA:2176
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var...	OMIM:608940
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Craniosynostosis, Lower limb undergrowth	OMIM:218650
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Short stature, Hypercalcemia, Sensorineural hearing impairment, Short 5th ...	ORPHA:557003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Mu...	OMIM:616897
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill...	OMIM:608154
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte...	OMIM:208230
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hyperammonemia,...	OMIM:618641
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor...	OMIM:618392
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop...	ORPHA:2746
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Slc35A2-Cdg	Osteopenia, Abnormal long bone morphology, Short tibia, Increased circulating thyroglobulin level...	ORPHA:356961
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Cachexia, Micrognathia, Tapered finger, Abnormal antihelix mor...	ORPHA:1438
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler...	OMIM:618476
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Hyperactivity, Posteriorly rotated ears, Small for gestational age, Tapered fi...	OMIM:609425
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und...	ORPHA:314795
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, W...	OMIM:619638
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Micrognathia...	ORPHA:2484
Dysosteosclerosis	Delayed closure of the anterior fontanelle, Micrognathia, Absent frontal sinuses, Increased inter...	OMIM:224300
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia	Primary hyperparathyroidism	OMIM:600166
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormality of the fascia, Ante...	ORPHA:85438
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Fraxe Intellectual Disability	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita...	ORPHA:100973
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ...	ORPHA:628
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral...	OMIM:619345
Occipital Horn Syndrome	Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca...	OMIM:304150
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b...	ORPHA:31824
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone ...	OMIM:614732
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ...	ORPHA:18
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, I...	ORPHA:85408
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph...	ORPHA:94090
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Failure to thrive	OMIM:560000
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen...	ORPHA:2631
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia	OMIM:211600
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit...	ORPHA:29207
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Poorly ossified vertebrae, Shortening of all ...	OMIM:619135
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Kuskokwim Syndrome	Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve...	ORPHA:1149
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal...	OMIM:607143
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive	OMIM:607765
Pendred Syndrome	Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter	ORPHA:705
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness, Skin...	ORPHA:85436
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib morphol...	ORPHA:1486
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:99880
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ...	OMIM:309350
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor...	ORPHA:83468
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Distal Arthrogryposis Type 1	Talipes, Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger,...	ORPHA:1146
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Micr...	OMIM:241410
Blue Diaper Syndrome	Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue urine, Recurrent hypogl...	ORPHA:94086
Gracile Bone Dysplasia	Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull ossificati...	OMIM:602361
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,...	ORPHA:577
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Mccune-Albright Syndrome	Hyperphosphaturia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia...	ORPHA:562
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita...	OMIM:309548
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Missing ribs, Micrognathia, Absent thumb, Humeroradial synostosis, ...	OMIM:251230
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ...	OMIM:123000
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Cleidorhizomelic Syndrome	Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Diaphyseal th...	ORPHA:1453
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X...	ORPHA:220393
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous os...	OMIM:103580
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:143
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Micrognathia	ORPHA:357175
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General...	ORPHA:85198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Pes planus, Posteriorly rotated ears, Tapered finger, Narrow jaw, Low-set ears, Macrocephaly, Cli...	OMIM:618147
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Hypophosphatasia	Bowing of the long bones, Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp...	OMIM:617925
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def...	ORPHA:319195
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus...	OMIM:259440
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract...	OMIM:601559
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Richieri Costa-Da Silva Syndrome	Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgu...	ORPHA:3101
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati...	OMIM:610600
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Micrognathia	OMIM:615162
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Hyperhidrosis, Acute tubulointerstitia...	ORPHA:340
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morphology, Patchy osteo...	ORPHA:2323
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Renal cyst, Hyperbilirubinemia, ...	ORPHA:79303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Conductive hearing impairment, Cl...	OMIM:300373
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Aggressive beh...	ORPHA:85279
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ...	ORPHA:188
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe...	ORPHA:93311
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Infantile Myofibromatosis	Hypercalcemia, Abnormal sacrum morphology, Bone cyst, Limitation of joint mobility, Osteolysis, A...	ORPHA:2591
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, V...	OMIM:241500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt...	OMIM:614736
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Kinsship Syndrome	Mandibular prognathia, Pes planus, Osteopenia, Short stature, Coxa valga, Micrognathia, Microceph...	OMIM:619297
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys...	ORPHA:94089
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte...	ORPHA:3027
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert...	ORPHA:93315
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis...	ORPHA:2801
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ...	ORPHA:1525
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly o...	ORPHA:2710
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Large fontanelles, Mandibula...	ORPHA:1832
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Narrow chest, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal c...	OMIM:218330
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin...	OMIM:617952
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Recurrent fractures	OMIM:618107
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Small for gestational age, Microcephaly, Postnatal growth retardat...	ORPHA:319332
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho...	ORPHA:582
Hypophosphatasia, Childhood	Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Rachitic rosary	OMIM:241510
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Dysosteosclerosis	Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m...	ORPHA:1782
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Amelogenesis imperfecta, Microretrognathia...	OMIM:618363
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ...	ORPHA:916
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ...	OMIM:166210
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Neuroocular Syndrome	Hyperextensibility of the finger joints, Pes planus, Genu recurvatum, Short stature, Tapered fing...	OMIM:619539
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Prenatal Bowing	Bowing of the long bones	OMIM:264050
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto...	ORPHA:2804
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Elbow flexion contracture, Thoracic kyphosis, Hypocalce...	OMIM:618440
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy...	ORPHA:36913
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra...	OMIM:167320
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Microcephaly, Small hand, Short foot, Self-injurious behavior, Secondary microcephaly, Arthrogryp...	OMIM:615282
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r...	OMIM:618188
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Hip dislocation, Knee dislocation, Hip dysplasia, Hammertoe, Scoliosis	ORPHA:370943
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ataxia, Pectus excavatum, Osteoporosis, Ankle clonus, Lambdoi...	OMIM:615398
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hy...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck,...	ORPHA:79444
Intellectual Developmental Disorder, Autosomal Recessive 69	Microcephaly, Hyperplasia of the maxilla	OMIM:618383
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto...	ORPHA:90652
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop...	ORPHA:398063
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to th...	OMIM:614104
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Diarrhea, Xerostomia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Vomitin...	OMIM:175500
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph...	OMIM:122860
Ck Syndrome	Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig...	OMIM:300831
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Microcephaly, ...	OMIM:615541
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges...	ORPHA:727
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent f...	OMIM:616229
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Sensor...	ORPHA:47
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Keipert Syndrome	Broad hallux phalanx, Short stature, Short hallux, Aplasia/Hypoplasia of the distal phalanges of ...	ORPHA:2662
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Gm1-Gangliosidosis, Type Ii	Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Limb ...	OMIM:230600
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S...	OMIM:263750
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Trigonocephaly 2	Depressed nasal bridge, Wide nasal bridge, Metopic synostosis, Microcephaly	OMIM:614485
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal...	ORPHA:140976
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Abnormality of the hand, Short neck, Flat capital femoral ep...	OMIM:252605
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary...	ORPHA:653
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Calvarial Hyperostosis	Calvarial hyperostosis	OMIM:302030
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho...	OMIM:102370
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Hypotonia-Cystinuria Syndrome	Posteriorly rotated ears, Facial palsy, Postnatal growth retardation, Macrotia, Hypocalcemia, Fai...	OMIM:606407
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Hyperactivity, Small for gestational age, Eczema, Short stature, Micrognathia, M...	ORPHA:352490
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat...	OMIM:617913
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul...	ORPHA:913
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce...	OMIM:614886
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micrognathia, Microme...	ORPHA:93329
Achondrogenesis Type 1B	Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ri...	ORPHA:93298
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Waddling gait, Short metaca...	OMIM:607326
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Failure to thrive, Hypocalcemia, Growth delay	ORPHA:163693
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay...	OMIM:620099
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b...	ORPHA:93346
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ...	ORPHA:439822
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate...	OMIM:619743
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B...	OMIM:611555
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla...	OMIM:617895
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Increased circulating interleukin 6 concentration, Diabetes mellitus, Anuria, Pancr...	ORPHA:544482
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Radial bowing, Recurrent fractur...	OMIM:610915
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con...	ORPHA:1332
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Steatorrhea	ORPHA:309031
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Flexion contracture of finger, Palmoplantar keratoderma	ORPHA:1010
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Lateral clavic...	OMIM:269250
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars...	OMIM:615222
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Czech Dysplasia	Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment	OMIM:619658
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ...	OMIM:616809
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Tachycardia, Heart block, Elevated circulating...	ORPHA:542323
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia,...	OMIM:277900
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia, Sho...	OMIM:182290
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru...	ORPHA:2958
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg...	ORPHA:93299
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239510
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Christianson Syndrome	Mandibular prognathia, Cachexia, Microcephaly, Truncal ataxia, Gait ataxia, Joint hyperflexibilit...	ORPHA:85278
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced...	ORPHA:667
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly,...	ORPHA:79113
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Waddling gait, Camptodactyly of finger, K...	OMIM:612350
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod...	ORPHA:52
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Failure to thrive, Broad hallux, Arachnodactyly, Ataxia, Aggressive behavior, Hypoplasia of the m...	ORPHA:481152
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia,...	ORPHA:915
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Overfolded heli...	OMIM:619092
Beta-Thalassemia Intermedia	Osteopenia, Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Osteopor...	ORPHA:231222
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive	OMIM:212750
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, G...	ORPHA:534
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of the cochlea...	ORPHA:251061
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abnormality of the lower limb, ...	ORPHA:313855
Brachytelephalangic Chondrodysplasia Punctata	Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv...	ORPHA:79345
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r...	OMIM:173800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Eczema, Hyperactivity, Aggressive behav...	OMIM:600430
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Hypera...	ORPHA:73272
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Hypoplasia of the maxilla, Microtia, Macrocephaly, Thickened...	ORPHA:261295
Distal Xq28 Microduplication Syndrome	Short stature, Impulsivity, Aggressive behavior, Metatarsus adductus, Hypoplasia of the maxilla, ...	ORPHA:293939
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Orofaciodigital Syndrome Ix	Toe syndactyly, Microcephaly, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Recurrent skin infections, Decreased serum iron, Overwe...	ORPHA:391372
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Periostitis, Crusting eryt...	ORPHA:324625
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Abnormal verteb...	ORPHA:166024
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Clinodactyly of the...	ORPHA:96148
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti...	OMIM:117650
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ...	OMIM:616145
Fragile X Syndrome	Mandibular prognathia, Pes planus, Hyperactivity, Abnormal head movements, Joint laxity, Self-bit...	OMIM:300624
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Short stature, Microcephaly, Metatarsus adductus, Hyp...	ORPHA:289522
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B...	ORPHA:96097
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph...	ORPHA:428
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, My...	ORPHA:319213
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Isotretinoin-Like Syndrome	Inguinal hernia, Micrognathia, Postnatal growth retardation, Microcephaly, Aplasia/Hypoplasia of ...	ORPHA:2306
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ...	OMIM:259720
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion cont...	OMIM:193700
Pontocerebellar Hypoplasia, Type 11	Pes planus, Broad-based gait, Short stature, Ataxia, Microcephaly, Inability to walk, Dysphagia, ...	OMIM:617695
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
N-Acetylaspartate Deficiency	Inguinal hernia, Broad-based gait, Short stature, Microcephaly, Unsteady gait, Truncal ataxia, Se...	OMIM:614063
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Pectus excava...	OMIM:259775
Auriculoosteodysplasia	Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,...	ORPHA:114
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensor...	OMIM:109120
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Secretory diarrhea, Red...	OMIM:619377
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur...	ORPHA:52368
Cri-Du-Chat Syndrome	Short metatarsal, Abnormal repetitive mannerisms, Self-mutilation, Oppositional defiant disorder,...	OMIM:123450
Hypoparathyroidism, X-Linked	Congenital hypoparathyroidism	OMIM:307700
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Hypopl...	ORPHA:397973
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Protruding ear,...	ORPHA:776
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of...	ORPHA:3404
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Hypocalcemia, Nephropathy, Hypothyroidism	ORPHA:1563
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,...	OMIM:619479
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Inability ...	OMIM:166300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,...	ORPHA:3082
Ravine Syndrome	Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive	ORPHA:99852
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:136760
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Low-set, posteriorly rotated ears, Relative macrocephaly, Micrognathia, Postnatal growth retardat...	ORPHA:254525
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microcephaly, Unsteady gait, Genu valgum, Growth delay, EEG abnormality, Microtia, M...	OMIM:617798
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo...	OMIM:187600
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial oss...	OMIM:614592
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Panner Disease	Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi...	ORPHA:97336
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o...	OMIM:119600
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Relative macrocephaly, Congenital hip dislo...	OMIM:614450
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f...	OMIM:218000
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Short stat...	ORPHA:1307
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Ti...	ORPHA:96334
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormality of the vertebral column, Osteoarthritis, Abnormal pelvis bone morphology, Obesity	ORPHA:2206
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia	OMIM:211900
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc...	OMIM:241200
Usher Syndrome Type 1	Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor...	ORPHA:231169
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Short stature, Hearing impairment, Hypoplasia of the maxilla, Optic at...	OMIM:614261
Craniofacioskeletal Syndrome	Pes planus, Posteriorly rotated ears, Short stature, Micrognathia, Microcephaly, Hypoplastic fron...	OMIM:300712
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Short neck, Obesity, Mitral valve prolapse, Abnormal metacarpal morp...	ORPHA:2233
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Joint hyperflexibili...	ORPHA:90653
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Tachycardia, Elevated circulating C-reactive p...	ORPHA:90051
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S...	OMIM:614753
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ...	ORPHA:66637
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness	OMIM:612097
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Meier-Gorlin Syndrome 4	Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar a...	OMIM:613804
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Decrea...	ORPHA:93950
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ...	ORPHA:199299
Lassa Fever	Shock, Increased circulating IgM level, Oliguria	ORPHA:99824
Xylt1-Cdg	Joint laxity, Pes planus, Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Shor...	ORPHA:370930
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Familial Calcium Pyrophosphate Deposition	Osteoarthritis, Limitation of joint mobility, Arthritis, Calcification of cartilage, Chondrocalci...	ORPHA:1416
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Craniosynost...	OMIM:252600
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Abnormal repetitive mannerisms, S...	OMIM:212066
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism	ORPHA:514
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Meier-Gorlin Syndrome 5	Small earlobe, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular fe...	OMIM:613805
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Abnormality of bon...	ORPHA:3156
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, High-frequency sensorineural hearing impairment, Osteopenia, Relative macr...	ORPHA:2324
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen...	OMIM:308050
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Overlapping toe, Tapered finger, Microcephaly, Abnormal repetitive mannerisms, ...	OMIM:617807
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Short stature, Hearing impairment, M...	ORPHA:444077
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Short stature, Dysphagia	OMIM:617862
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Micrognathia, Postnatal growth retardation, Oral-pharyngeal dysphagia, Microcephaly, Prominent pr...	ORPHA:480907
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener...	ORPHA:416
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio...	ORPHA:73224
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ...	ORPHA:166272
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Elbow flexion contracture,...	OMIM:252940
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Ataxia, Tapered finger, Micrognathia, Microcephaly, Sensorineural hear...	ORPHA:2479
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hyponatremia, Failure to thrive, Optic nerve hypoplasia, Micrognathia, Hyp...	OMIM:620157
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Inc...	ORPHA:52430
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce...	ORPHA:417
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho...	OMIM:255710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Cortical thic...	ORPHA:93325
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Hearing impairm...	ORPHA:794
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Sensorineural hearing impairment, Camptodactyly of finger, Ulnar devia...	ORPHA:1529
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ...	ORPHA:1597
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Hip dislocation, Sacrococcygeal pilonidal abnormality, Slender long...	ORPHA:2840
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros...	OMIM:269300
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Persistence of primary teeth, Micrognathia, Aggressive behavior, Se...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Protruding ear, Hypocalcemia, Abnormal repetitive mannerisms, Joint laxity...	OMIM:620330
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Microcephaly	OMIM:618302
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Small for gestational age, Short stature, Micrognathia, Ora...	OMIM:610883
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint laxity, Microretrognathia, Joint dislocation, Short clavicles, Short 4th metacarpal	OMIM:606220
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hy...	ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Chronic constipation, M...	OMIM:300676
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limited elbow extension	ORPHA:156728
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Camptodactyly of finger, Joint stiffness, Megacystis, Vesicoure...	ORPHA:2604
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Pes planus, S...	OMIM:305400
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Dysphagia, Growth delay, Choreoathetosis, Bilateral sensorineural hearing ...	OMIM:619422
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Short stature, Micrognathia, Tics, Low-set ears, Attention deficit hype...	OMIM:617808
Proteus Syndrome	Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal...	OMIM:176920
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impa...	ORPHA:93262
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short neck, Kyphosis,...	ORPHA:3409
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Growth delay, Self-injurious behavior, Low-se...	ORPHA:238750
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn...	OMIM:215150
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Short ...	OMIM:264180
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ...	OMIM:616507
Insulin-Like Growth Factor I Deficiency	Osteopenia, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Microcephal...	OMIM:608747
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,...	OMIM:601005
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Seizures-Scoliosis-Macrocephaly Syndrome	Broad-based gait, Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor...	ORPHA:2583
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc...	ORPHA:2751
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Macrocephaly-Developmental Delay Syndrome	Microretrognathia, Mandibular prognathia, Craniosynostosis, Recurrent pneumonia, Abnormal speech ...	ORPHA:397612
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis...	ORPHA:2522
Moebius Syndrome	Syndactyly, Pes planus, Brachydactyly, Micrognathia, Short neck, Clinodactyly, Split hand, Abnorm...	OMIM:157900
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, 2-3 toe syndactyly, Short foot, Secondary microcephaly, Bruxism, Abnormal repet...	OMIM:616351
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Enlargement of the wrists, Reduced bone mineral density, Tip-toe ga...	ORPHA:83629
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy, Hypsarrhythmia, Secondary microcephaly, Abnormal repetitive man...	OMIM:617830
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Smith-Magenis Syndrome	Mandibular prognathia, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th finge...	ORPHA:819
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Pes planus, Ataxia, Abnormal dental enamel...	ORPHA:10
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Recurrent otitis med...	ORPHA:254531
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, Advanced eruption of teeth, Short metacarpal, Pseudoep...	ORPHA:192
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Aggressive behavior, Microcephaly, Sensorineu...	ORPHA:17
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Small for gestational age, Short stature, Lower limb asymmetry, Postnatal ...	ORPHA:231140
Deafness, Unilateral	Unilateral deafness	OMIM:125000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Microcephaly, Overweight, Cranial hyperostosis, Hip dysplasia, Gait disturbance, M...	ORPHA:457240
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2n...	OMIM:609128
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Coxa vara, In...	OMIM:610968
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Microcephaly, 2-3 toe synd...	ORPHA:3306
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron...	OMIM:613845
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint...	OMIM:212112
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Hi...	OMIM:618853
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p...	OMIM:212720
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, M...	ORPHA:476126
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Alazami Syndrome	Abnormal eating behavior, Postnatal growth retardation, Mild microcephaly, Slender long bone, Low...	ORPHA:319671
Chromosome 16Q22 Deletion Syndrome	Posteriorly rotated ears, Broad hallux, Small for gestational age, Micrognathia, Postnatal growth...	OMIM:614541
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Microtia, Limb undergrowth, Brachydactyly	ORPHA:221054
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Compulsive behaviors, Short palm, Conductive hearing impairment,...	ORPHA:1001
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor...	ORPHA:2050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Abnormal thorax morphology, Rhizomelic arm shortening, Broad cla...	ORPHA:508542
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis	ORPHA:71267
9Q31.1Q31.3 Microdeletion Syndrome	Cervical kyphosis, Tapered finger, Short neck, Small hand, Short clavicles, Hypercholesterolemia	ORPHA:401923
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A...	ORPHA:2021
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Broad hallux, Broad thumb	OMIM:272200
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Macrocephaly, Self-injurious behavior...	OMIM:613670
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Lymphatic Malformation 13	Unilateral deafness	OMIM:620244
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Micrognathia, Postaxial...	OMIM:617866
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl...	OMIM:615546
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Mesomelia, Brachydactyly, Micrognathia	ORPHA:1277
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal join...	ORPHA:3130
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Pes planus, Genu recurvatum, Short stature, Microcephaly, Overweight, Generalized ...	ORPHA:280763
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Scoliosis, Short long bone, Camptodactyly	OMIM:619751
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Ventricular septal defect, Elevated circulating creatine kinase concentration, S...	ORPHA:26793
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Eczema, Microcephaly, Congenital sensorineural hearing impairment, Sensorineural he...	ORPHA:500159
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Chronic kidney disease, Osteoporosis, Short long ...	OMIM:602152
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Posteriorly rotated ears, Rocker b...	ORPHA:163979
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met...	OMIM:613320
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy...	OMIM:601390
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies	OMIM:230500
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Bone marrow hypocellularity,...	OMIM:231095
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior...	OMIM:619698
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone	OMIM:262500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, Malar flat...	OMIM:235255
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Genu varum, Microretrogn...	OMIM:613803
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Osteoporosis, Hip dislocat...	ORPHA:2078
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set...	OMIM:618718
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Renal tubular acidosis, Car...	OMIM:530000
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr...	ORPHA:536471
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointers...	OMIM:616629
Hereditary Fructose Intolerance	Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi...	ORPHA:469
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Aplastic clav...	OMIM:265800
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy...	ORPHA:2848
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Thoracic hypoplasia	OMIM:613124
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Micrognathia, Postnatal growth retardation, Postaxial hand polydactyly, Hypocalc...	ORPHA:1655
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach...	ORPHA:193
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of...	ORPHA:2136
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Ataxia, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat ...	OMIM:610442
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur	ORPHA:1054
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Nasu-Hakola Disease	Bone cyst, Abnormal epiphysis morphology, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ...	ORPHA:3068
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Short stature, Fifth finger distal phalanx clinodact...	OMIM:257850
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas...	ORPHA:90791
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol...	ORPHA:178303
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em...	OMIM:613390
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Condu...	OMIM:182212
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Ataxia, Micrognathia, Microcephaly, Flexion contracture, Small hand, Obesity, Chore...	OMIM:300055
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Microcephaly, Repetitive compulsive behavior, 2-3 toe cutaneous syndactyly, Inability to ...	OMIM:300260
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Tricuspid regurgitation, Hypophosphaturia, Hypoplastic sweat glands, Mi...	ORPHA:73223
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Femoral bowing, A...	OMIM:616462
Ppoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth...	ORPHA:97278
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity disorder, Ma...	OMIM:620021
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Mixed hearing impairment, Short femur, Short stature, Tali...	OMIM:300990
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear...	ORPHA:50815
Crouzon Syndrome	Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Condu...	ORPHA:207
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hern...	OMIM:263210
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi...	ORPHA:2972
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Mosaic Trisomy 14	Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Short neck, Abnormal rib morphology,...	ORPHA:1703
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria	OMIM:309930
Hao-Fountain Syndrome	Large fontanelles, Delayed cranial suture closure	OMIM:616863
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Broad finger, Primary microcep...	OMIM:617523
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Short stature, Optic nerve hypoplasia...	OMIM:617302
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Somatostatinoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated...	ORPHA:97283
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Decreased body weight, Abnormal repetitive mannerisms, Amelogenesis i...	OMIM:619229
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp...	ORPHA:1842
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis	OMIM:204730
Mohr Syndrome	Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Po...	OMIM:252100
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
2Q23.1 Microdeletion Syndrome	Hyperactivity, Sandal gap, Short stature, Ataxia, Microcephaly, Polyphagia, Growth delay, Self-in...	ORPHA:228402
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, Rh...	ORPHA:163654
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Hyperl...	OMIM:248370
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn...	ORPHA:666
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Sandal gap, Ataxia, Tapered finger, Aggressive behavior,...	OMIM:618430
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla...	OMIM:615349
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Short stature, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear...	OMIM:619260
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Chromosome Xq21 Deletion Syndrome	Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ...	OMIM:303110
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Impulsivity, Micrognathia, Aggressive behavio...	OMIM:618914
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger...	ORPHA:435638
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Decreased cir...	OMIM:619381
Grfoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth...	ORPHA:97261
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Short stature, Micrognathia, Microcephaly, Patellar aplasia, Birth len...	OMIM:613800
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, Anotia, Clinodactyly of the 5th finger, Microtia, third ...	ORPHA:2554
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Wide nasal bridge, Premature posterior fontanelle closure, Multiple su...	ORPHA:3369
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Recurr...	OMIM:610682
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Arthrit...	ORPHA:247353
Cohen Syndrome	Pes planus, Short metacarpal, Small for gestational age, Short stature, Micrognathia, Tapered fin...	OMIM:216550
Hurler Syndrome	Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Hypoplasia of the odontoid process, ...	OMIM:607014
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D...	ORPHA:90646
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Small for gestational age, Elbow contracture, Short stature, P...	OMIM:616489
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ...	OMIM:250250
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Pearson Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Pancreatic fibrosis, Decreased respon...	ORPHA:699
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
22Q11.2 Deletion Syndrome	Micrognathia, Hypocalcemia, Conductive hearing impairment, Chronic otitis media, Small earlobe, A...	ORPHA:567
Trisomy 10P	Micrognathia, Abnormality of the ear, EEG with focal spikes, Abnormal hip joint morphology, Abnor...	ORPHA:171929
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Failure to t...	ORPHA:51608
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ...	OMIM:300614
Xq28 (MECP2) duplication	Microcephaly, Inability to walk, Macrotia, Gait ataxia, Dysphagia, Malar flattening, Failure to t...	DECIPHER:45
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Short stature, Ataxia, Tracheomalacia, Micrognathia, Hypoplasia of the ma...	ORPHA:314679
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Abnormal eating behavior, Anteverted ears, Microcephaly, Macrotia,...	ORPHA:544254
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Abnormal rep...	OMIM:613443
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Small earlobe, Genu varum, Long toe, Short stature, Absence of...	OMIM:264090
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Short stature, Micr...	OMIM:615656
Proteus-Like Syndrome	Hyperostosis, Genu recurvatum, Lower limb asymmetry	ORPHA:2969
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex...	ORPHA:746
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Conductive hearing impairmen...	ORPHA:2462
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Congenital Myopathy 15	Osteopenia, Waddling gait, Joint hypermobility, Camptodactyly	OMIM:620161
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci...	ORPHA:35706
Coffin-Siris Syndrome 7	Brachydactyly, Hyperactivity, Posteriorly rotated ears, Short stature, Severe temper tantrums, Sa...	OMIM:618027
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness, Shuffling gait, Short distal phalanx of finger	OMIM:300266
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog...	ORPHA:90038
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Short stature, Eczema, Microcephaly, Postnatal growth reta...	ORPHA:353298
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid...	OMIM:224400
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Craniosynostosis	ORPHA:60015
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Monosomy 13Q34	Pes planus, Posteriorly rotated ears, Hypercalcemia, Micrognathia, Microcephaly, Postaxial hand p...	ORPHA:96168
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Ataxia, Micrognathia, Microcephaly, Optic atrop...	ORPHA:530983
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Tics, Abnormal repetitive m...	OMIM:616364
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Decreased ...	OMIM:271510
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Recurrent pneumonia, Self-injurious behavior, Clinodactyly of the 5th fing...	OMIM:615637
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Gait ataxia, Progressive cer...	ORPHA:95433
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, Clinodactyly of the 5th finger...	ORPHA:508488
Recon Progeroid Syndrome	Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under...	OMIM:620370
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Optic atrophy, Elbow flexion ...	OMIM:619470
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight	ORPHA:93945
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Sacral dimple, Recurrent fra...	ORPHA:3206
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Microcephaly, Inability to walk, Dysphagia,...	OMIM:617802
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Short neck, Coxa valga, Elbo...	ORPHA:1425
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Micrognathi...	OMIM:309520
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Interictal epileptiform activity, Progr...	OMIM:618737
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma...	ORPHA:3015
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Radio-Tartaglia Syndrome	Pes planus, Ataxia, Hearing impairment, Micrognathia, Tapered finger, Abnormal repetitive manneri...	OMIM:619312
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Alpha-Mannosidosis	Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplasia, Scoliosis, Hypoplastic ...	ORPHA:61
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho...	OMIM:616294
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Short stature, Proximal placement of thumb, Hearing impa...	ORPHA:94065
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of...	ORPHA:251014
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb...	OMIM:611209
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a...	ORPHA:2785
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta	ORPHA:2983
Charge Syndrome	Micrognathia, Hand monodactyly, Hypocalcemia, Self-mutilation, Hypoplasia of the ulna, Facial pal...	OMIM:214800
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal form of the vertebral bodies, Joint hyperf...	ORPHA:1458
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria	OMIM:606528
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Short stature, Micrognathia, Prominent crus of helix, Postnatal ...	OMIM:619695
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Microc...	ORPHA:85201
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Hearing impairment, Persistence of...	OMIM:610253
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Microcephaly, Abnormal zygomatic bone morphology, Lar...	ORPHA:2511
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th...	ORPHA:488434
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Hyperactivity, Ataxia, Aggressive behavior, Postnatal growth retardation, ...	OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Long foot, Aggressive behavior, Fixated interests, Tics, Talipes equinovarus, Attention...	OMIM:617788
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T...	ORPHA:1120
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn...	OMIM:121050
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Adrenal insuf...	ORPHA:85445
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Gorlin-Chaudhry-Moss Syndrome	Short stature, Hypoplasia of the maxilla, Abnormal foot morphology, Abnormal metacarpal morpholog...	ORPHA:2095
Mend Syndrome	Hyperactivity, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Micrognathia, ...	ORPHA:401973
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon...	OMIM:260400
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon...	OMIM:240300
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Short stature, Aggressive behavior, Microcephaly, 2-3 toe syndactyly, Macrotia, Ab...	ORPHA:391307
Pendred Syndrome	Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural...	OMIM:274600
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Reduced bone mineral density, Joint hyperflexibility, Slender long bone, Cubitus...	ORPHA:1185
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Proximal lower limb amyotrophy, Restless legs, Optic nerve h...	ORPHA:101085
Fanconi Anemia	Pes planus, Finger syndactyly, Toe syndactyly, Hypoplasia of the ulna, Abnormal morphology of uln...	ORPHA:84
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Small hand,...	ORPHA:96184
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Decreased circulatin...	OMIM:612301
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum...	OMIM:612921
Warsaw Breakage Syndrome	Microcephaly, Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic disc col...	OMIM:613398
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina...	ORPHA:94093
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Orthostatic hypotension,...	ORPHA:95409
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Posteriorly rotated ears, Craniosynostosis, Long fingers, Macrocephaly...	OMIM:613174
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:1248
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Sensorineural hearing impairment...	ORPHA:261197
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Talipes equinova...	OMIM:614815
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Small hand, Dysphagia, Short foot, Ankle clonus, Agitation, Bruxism, Abnormal repe...	OMIM:617435
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os...	ORPHA:36234
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic...	OMIM:619503
Dentici-Novelli Neurodevelopmental Syndrome	Microcephaly, Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearin...	OMIM:619877
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Hyperlipidemia, Flexion contracture, Progressive clavicular acroosteolysis, Osteoly...	OMIM:608612
Al Kaissi Syndrome	Pes planus, Broad-based gait, Posteriorly rotated ears, Abnormal pinna morphology, Short stature,...	OMIM:617694
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ...	OMIM:249420
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Roifman Syndrome	Hip contracture, Short metacarpal, Short stature, Eczema, Microcephaly, Postnatal growth retardat...	OMIM:616651
Non-Functioning Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co...	ORPHA:94080
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Short metatarsal, Waddling gait, Short metacarpal, Rhizomelia,...	OMIM:614813
Tibial Hemimelia	Absent tibia	OMIM:275220
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Loss of facial adipose tissue, ...	ORPHA:3455
Glucagonoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated...	ORPHA:97280
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Elevat...	OMIM:302960
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short...	OMIM:139210
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Lower limb asy...	ORPHA:744
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Spastic ataxia, Optic nerve hypoplasia, Micrognathia, Metatarsus adductus, Postnata...	ORPHA:300570
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Craniosynostosis 4	Depressed nasal bridge, Sagittal craniosynostosis, Macrocephaly, Pansynostosis, Lambdoidal cranio...	OMIM:600775
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Woolly Hair Nevus	Enlarged vestibular aqueduct, Brachydactyly	ORPHA:79414
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Elevated circulating creatine kinase concentration,...	OMIM:600092
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Pes planus, Overfriendliness, Posteriorly rotated ears, Tapered finger, Flexion con...	OMIM:619293
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility...	ORPHA:2058
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers, Growth delay,...	OMIM:615716
Mirage Syndrome	Hyponatremia, Rocker bottom foot, Radial club hand, Hyperkalemia, Talipes equinovarus, Scoliosis,...	OMIM:617053
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ...	OMIM:605822
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Failure to thrive, Foot joint contrac...	ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Hyperactivity, Eczema, Microcephaly, Sensorineural hearing impairment, Recurrent pn...	OMIM:617751
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,...	ORPHA:583
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla...	ORPHA:228396
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Broad-based gait, Long palm, Recurrent fractures, Single...	OMIM:309583
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Failure to thrive, Hypocalcemia	ORPHA:3426
Phelan-Mcdermid Syndrome	Broad-based gait, Micrognathia, Aggressive behavior, Microcephaly, Tongue thrusting, Dental maloc...	OMIM:606232
Intellectual Disability, Buenos-Aires Type	Spastic gait, Pectus carinatum, Reduced bone mineral density, Abnormal pelvic girdle bone morphol...	ORPHA:3079
Velocardiofacial Syndrome	Inguinal hernia, Short stature, Talipes, Aggressive behavior, Microcephaly, Abnormality of the ea...	OMIM:192430
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external...	ORPHA:2399
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Delayed cranial suture closure, Aplastic clavi...	ORPHA:2658
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Obesity, Hypokalemia, Abdominal obesity, Biconcave vertebral bodies, Vert...	OMIM:219090
Summitt Syndrome	Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ri...	ORPHA:3210
Wiedemann-Steiner Syndrome	Micrognathia, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Joint laxity,...	OMIM:605130
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Galloway-Mowat Syndrome 6	Short stature, Microcephaly, Growth delay, Hypoalbuminemia, Decreased body weight, Clinodactyly o...	OMIM:618347
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ear, Clinodact...	OMIM:609625
Cockayne Syndrome A	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:216400
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Small for gestational age, Broad na...	ORPHA:488437
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect...	OMIM:225500
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Secondary microcephaly, Difficulty walking, Joint contracture, Failure to thrive, Abnormal repeti...	OMIM:617393
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl...	OMIM:617159
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Pectus excavatum, Micrognathia, Coxa valga, Abnormal form of th...	ORPHA:949
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M...	ORPHA:2774
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Broad-based gait, Abnormal foot morphology, Unsteady gait, Macroce...	OMIM:618205
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Pes planus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit...	OMIM:618000
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost...	OMIM:241310
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Tapered finger, Micrognathia, Aggressive behavior, Macrotia, Microcephaly, 2-3 toe sy...	OMIM:617061
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E...	ORPHA:584
Foxg1 Syndrome	Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth retardation, ...	ORPHA:561854
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Stimmler Syndrome	Aminoaciduria, Type II diabetes mellitus	ORPHA:3199
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Inguinal hernia, Small for gestational age, Micrognathia, Post...	ORPHA:397590
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th ...	OMIM:167730
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na...	ORPHA:2863
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Short stature, Unsteady gait, Pica, EEG abnormality, Low-set ears, Clinodactyly of the 5th finger...	OMIM:618480
Optic Atrophy-Intellectual Disability Syndrome	Short stature, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive behavior, Optic atro...	ORPHA:401777
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Short stature, Ataxia, Impulsivity, Tapered finger, Aggressive behav...	OMIM:619435
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Broad-based gait, Aganglionic megacolon, Short stature, Aggressive behavio...	OMIM:300352
Baker-Gordon Syndrome	Joint laxity, Ataxia, Abnormal foot morphology, Inability to walk, Choreoathetosis, Self-injuriou...	OMIM:618218
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger...	ORPHA:251028
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, T...	ORPHA:2463
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Pes planus, Arachnodactyly, Short stature, Ataxia, Micrognathia, Aggressive behavio...	OMIM:300986
Short Stature, Developmental Delay, And Congenital Heart Defects	Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C...	OMIM:617044
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ...	OMIM:616367
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Obesity, Radioulnar syn...	ORPHA:171839
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla	OMIM:613671
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, ...	OMIM:608149
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Short clavicles	OMIM:619793
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat...	ORPHA:231226
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Thickened helices, ...	OMIM:610954
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Short stature, Micrognathia, Microcephaly, Cupped ear, Limb ataxia, Self-injuri...	OMIM:617101
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones	ORPHA:2773
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Ogden Syndrome	Microretrognathia, Abnormal head movements, Inguinal hernia, Broad hallux, Postnatal growth retar...	ORPHA:276432
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Pectus ...	OMIM:311900
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor...	OMIM:241150
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Short stature, Severe postnatal growt...	ORPHA:769
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Pes planus, Cachexia, Joint stiffness, Micrognathia, Abnormality of the lower limb, Flexion contr...	ORPHA:1979
Meier-Gorlin Syndrome 6	Microretrognathia, Severe short stature, Sandal gap, Posteriorly rotated ears, Small for gestatio...	OMIM:616835
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent...	ORPHA:3282
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla...	OMIM:612731
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mobility, Abnormal rib mor...	ORPHA:96061
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse...	OMIM:619727
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, H...	OMIM:265050
Huntington Disease-Like 1	Abnormal head movements, Restlessness, Dysmetria, Weight loss, Abnormal shoulder morphology, EEG ...	ORPHA:157941
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Metatarsus adduc...	OMIM:612513
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Posteriorly rotated ears, Severe short stature, Micromelia, Bowing of the legs,...	ORPHA:1865
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bo...	OMIM:215250
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m...	ORPHA:2409
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Larsen Syndrome	Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Elbow dislocation, Acces...	OMIM:150250
Marbach-Rustad Progeroid Syndrome	Femur fracture, Micrognathia, Reduced bone mineral density, Short clavicles, Wormian bones	OMIM:619322
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine conce...	ORPHA:29073
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Inability to walk, Tongue thrusting, Gait...	OMIM:619580
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m...	ORPHA:1798
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor...	ORPHA:1435
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Micrognathia, Hyperlordosis, High iliac wing, Asymmetry of the th...	ORPHA:2780
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Ataxia, Reduced bone mineral density, Osteoporosis of vertebrae	ORPHA:243
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli...	OMIM:277600
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Mandibuloacral Dysplasia	Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Contractures of ...	ORPHA:2457
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul...	OMIM:618183
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase concentration, Micrognat...	ORPHA:496641
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Yellow Fever	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Anuria, Elevated ci...	ORPHA:99829
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist...	OMIM:620073
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abs...	ORPHA:1215
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty...	ORPHA:3242
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Humeral pseudarthrosis, Compulsive behaviors, Conductive hearing impai...	ORPHA:2044
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Protruding ear, Short palm, Clinodactyly of the 5th finger, ...	OMIM:156200
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ...	ORPHA:2762
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia, Tinnitus	ORPHA:403
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Contracture of the proximal inter...	OMIM:620141
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Prader-Willi Syndrome Due To Imprinting Mutation	Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology	ORPHA:177910
Birk-Landau-Perez Syndrome	Camptocormia, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M...	OMIM:617595
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, EEG with parietal epileptiform discharges, Ataxia, Glomerulonephritis, Microcephaly...	OMIM:619428
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Joint stiffness, Reduced bone mineral density, Decreased circulating total IgM...	OMIM:620210
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholes...	OMIM:118450
Melas	Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia,...	ORPHA:2588
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Hypoplasia of the ma...	ORPHA:96129
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea...	ORPHA:35173
Singleton-Merten Syndrome 2	Osteopenia, Scoliosis, Joint subluxation, Osteolytic defects of the phalanges of the hand	OMIM:616298
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Feta...	ORPHA:50810
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Proximal placement of thumb, Aggressive behavior, Microcephaly, Scissor gait, 2-3 toe syndactyly,...	OMIM:619121
Juvenile Polyposis Syndrome	Diarrhea, Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive	OMIM:174900
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Microce...	OMIM:620001
Branchiootorenal Syndrome 1	Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c...	OMIM:113650
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Free Sialic Acid Storage Disease	Proteinuria, Failure to thrive in infancy, Abnormal foot morphology, Reduced bone mineral density...	ORPHA:834
Nail-Patella Syndrome	Back pain, Pes planus, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Sensorineural hearing impa...	OMIM:161200
Shukla-Vernon Syndrome	Impulsivity, Tapered finger, Aggressive behavior, Long fingers, Attention deficit hyperactivity d...	OMIM:301029
Liddle Syndrome	Hypokalemia, Constipation	ORPHA:526
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repetitive mannerism...	OMIM:618917
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat...	ORPHA:231214
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Sh...	OMIM:617022
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T...	ORPHA:2215
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm...	OMIM:109400
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short stat...	ORPHA:261323
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large...	ORPHA:411986
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Small for gestational age, Prominent nose, Micrognathia, Microcephaly, Failure to thrive, Hyperpl...	OMIM:620194
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia	ORPHA:71518
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with central focal spikes, Cholecystitis, Abnormal repetitive mannerisms, Broad metacarpals, ...	OMIM:301066
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de...	OMIM:259050
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Developmental And Epileptic Encephalopathy 64	Micrognathia, Microcephaly, Inability to walk, Self-injurious behavior, Bruxism, Macrotia, Abnorm...	OMIM:618004
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Micrognathia, Hypoplasia of the maxilla, Flexion co...	OMIM:180849
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d...	ORPHA:1647
Charge Syndrome	Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bone mineral dens...	ORPHA:138
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Marshall Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Hypopla...	ORPHA:560
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse...	ORPHA:955
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Missing ribs, Micrognathia, Short neck, Abnormal rib morphology, Abnorma...	ORPHA:1834
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ...	OMIM:609053
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment	ORPHA:101016
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Micrognathia, Dysmetria, Abnormal optic disc morphology, Chronic...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Asymmetry of the ears, Microcephaly, Overweight, Sensor...	OMIM:617796
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
22Q11.2 Duplication Syndrome	Micrognathia, Microcephaly, Anterior creases of earlobe, Growth delay, Compulsive behaviors, Atte...	ORPHA:1727
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Silver-Russell Syndrome 2	Relative macrocephaly, Delayed closure of the anterior fontanelle, Micrognathia	OMIM:618905
Cleft Velum	Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Recurrent otitis media, Aspiration pneumoni...	ORPHA:99772
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Thoracolumba...	OMIM:252500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Posteriorly rotated ears, Coxa valga, Tapered finger, Absent frontal sinus...	OMIM:301040
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Scoliosis, Brachydactyly	ORPHA:1133
Familial Tumoral Calcinosis	Hyperostosis	ORPHA:53715
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Wormian bones, Malar flattening,...	OMIM:613849
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Aggressive behavior, Tapered finger, Attention deficit hyperactivity d...	OMIM:618825
Split Lower Lip	Narrow maxilla	OMIM:183400
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Phenylketonuria	Aminoaciduria	ORPHA:716
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Pterygi...	OMIM:224410
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Hearing impairment, Micrognathia, Postnatal growth reta...	OMIM:300867
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffne...	OMIM:253200
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:391474
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limite...	OMIM:300280
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Galactosemia I	Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Aminoaciduria, Albuminur...	OMIM:230400
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Reduced bone mineral density	ORPHA:977
Methylcobalamin Deficiency Type Cble	Syndactyly, Hypomethioninemia, Microcephaly, Postnatal growth retardation, Osteoporosis, Hyperhom...	ORPHA:2169
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Posteriorly rotated ears, Joint hypermobility, Ataxia, Tapered...	OMIM:617804
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Vertebr...	ORPHA:1323
Brunet-Wagner Neurodevelopmental Syndrome	Increased skull ossification, Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy	OMIM:619690
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab...	ORPHA:2791
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Spastic gait, Limb ataxia, Leg muscle stiffness, Difficulty walking, Dysphagia, P...	ORPHA:251282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia, Polydipsia, Tinnitus	ORPHA:369929
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Andersen-Tawil Syndrome	Joint laxity, Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla...	ORPHA:37553
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Small for gestatio...	ORPHA:221016
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff...	ORPHA:227982
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ...	OMIM:604757
Sturge-Weber Syndrome	Hyperostosis	ORPHA:3205
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Abnormality of th...	ORPHA:163649
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Low plasma citrulline, Larg...	OMIM:219150
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Constipation, Hyperplasia of the maxilla	OMIM:617616
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Cleft Lip/Palate	Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hea...	ORPHA:199306
Rhabdoid Tumor	Hypercalcemia, Weight loss	ORPHA:69077
Cinca Syndrome	Joint dislocation, Delayed closure of the anterior fontanelle, Elevated circulating C-reactive pr...	ORPHA:1451
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Failure to thrive, Anteverted nares, Choanal atr...	OMIM:602535
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Schinzel-Giedion Syndrome	Micrognathia, Tibial bowing, Wide anterior fontanel, Hypsarrhythmia, Abnormal cochlea morphology,...	ORPHA:798
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Ataxia, Coxa valga, Elbow dislocation, Inability to wal...	OMIM:620083
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Abnormal fingertip morphology	ORPHA:529965
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Short stature, Thickened helices, Proportionate short stature...	OMIM:608328
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Ata...	ORPHA:909
Potocki-Shaffer Syndrome	Wormian bones, Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Short metatarsal, Small hand, Short foot, Short palm, Short phalanx...	OMIM:180870
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Plantar hyperkerat...	ORPHA:221008
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Aggressive behavior, Optic atrophy, 2-3 toe syndactyly, Self-injurious behavior...	ORPHA:313892
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn...	ORPHA:95699
Richards-Rundle Syndrome	Reduced bone mineral density, Ataxia, Gait disturbance, Joint stiffness	ORPHA:1399
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy...	ORPHA:209905
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Nablus Mask-Like Facial Syndrome	Small earlobe, Sandal gap, Posteriorly rotated ears, Short hallux, Tapered finger, Hypoplasia of ...	OMIM:608156
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,...	OMIM:620292
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Overlapping toe, Short s...	OMIM:613026
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Oral-pharyngeal dysphagia, Prominent protruding coccyx, Protruding ear, Chronic otiti...	OMIM:300966
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg...	ORPHA:263508
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity,...	ORPHA:251004
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Hip dislocation, Talipes equinovarus, Wormian bones, De...	OMIM:616603
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Hearing impairment, Micrognathia, Absent radius, Preaxial hand p...	ORPHA:233
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Mul...	OMIM:245600
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Abnormal diaphysis morphology, Scoli...	ORPHA:1657
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Lower limb asymmetry, Abnormal femur morphology, Upper lim...	ORPHA:2063
Bainbridge-Ropers Syndrome	Pes planus, Failure to thrive, Ulnar deviation of the hand, Arachnodactyly, Posteriorly rotated e...	OMIM:615485
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly...	OMIM:129400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplastic coccygeal vertebrae,...	OMIM:619512
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Short stature, Thickened helices, Tracheomalaci...	ORPHA:261494
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Sho...	OMIM:620369
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor...	ORPHA:99027
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Elevated circulating creatinine concentratio...	OMIM:614376
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Postn...	ORPHA:3309
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Multiple joint dislocation, Anterior atlanto-occipital disloc...	ORPHA:536467
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level	OMIM:218030
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Protruding ear, Abnormal repetitive mannerisms, Hyperactivity,...	OMIM:309590
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma, Conjunctivitis, Atresia ...	OMIM:106260
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Gait ataxia, Abnormal pelvic girdle bone morphology, Gait disturbance, Pes cavus, C...	OMIM:601162
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Secondary microcephaly, Jo...	OMIM:616881
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Tracheomalacia, Micrognathia, Metatarsus adductus, Abnormal repetitive manneris...	ORPHA:513456
9Q33.3Q34.11 Microdeletion Syndrome	Abnormal pinna morphology, Microcephaly, Inability to walk, Patellar aplasia, Patellar hypoplasia...	ORPHA:495818
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Tarp Syndrome	Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Microgn...	ORPHA:2886
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, D...	OMIM:620242
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior fontanel, Unsteady gait, M...	ORPHA:457279
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Absent thumb, Micrognathia	OMIM:613951
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Vertebral compression fracture, Reduced bone miner...	OMIM:112240
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Ataxia, Craniosynostosis, Joint stiffness, Pectus excav...	ORPHA:309282
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg...	OMIM:609136
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Acne, Short stature, Micrognathia, Seborrheic dermatitis, Microc...	OMIM:188400
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal palmar dermatoglyphics, Lowe...	ORPHA:2092
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ...	ORPHA:93473
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Microcephaly, Inability to walk, Sensorineural hearing impairment, Hypsarrhythmia, EEG with front...	ORPHA:457351
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Periostitis, Os...	OMIM:612852
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho...	ORPHA:1300
Pitt-Hopkins Syndrome	Short metatarsal, Narrow foot, Gait ataxia, Finger clinodactyly, Thickened helices, Ataxia, Taper...	ORPHA:2896
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Prominent metopic ridge, Microcephaly, Genu valgum, Chronic constipation, ...	OMIM:619721
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Abnormal thorax morphology, Short femor...	ORPHA:1708
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Abnormal repetitive mannerisms, Oppositional defiant disorder, Pap...	ORPHA:580
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Knee flexion contracture, Abnormal repetitive...	ORPHA:468631
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Aplasia/Hypoplas...	ORPHA:2753
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperactivity, Hyperextensibility at elbow, Rhizomelia, Short sta...	ORPHA:319182
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the elbow, Prominent nasal bridge, Hypoplasia of the premax...	ORPHA:2673
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth...	OMIM:612394
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Pearson Marrow-Pancreas Syndrome	Pancreatic fibrosis, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex o...	OMIM:557000
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Diabetes insipidus, Polyuria, Megacystis	OMIM:304800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta...	OMIM:619351
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Wide nasal bridge, Metopic synostosis, Macrocephaly, Joint contracture of the h...	OMIM:175700
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Hypercalcemia	ORPHA:2123
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Short stature, Micrognathia, Postnatal growth retardat...	OMIM:225410
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, A...	ORPHA:828
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent joint dislocation, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint ...	OMIM:619115
Familial Hyperaldosteronism Type Ii	Hypokalemia, Tinnitus	ORPHA:404
Gapo Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormal thorax morphology, Abnormal form of the vert...	ORPHA:2067
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Constipation, Neonatal hyperbilirubinemia, De...	ORPHA:95717
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects...	OMIM:259100
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma...	OMIM:269150
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Abnormal bone ossification, Clinodact...	ORPHA:79324
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Preaxial hand poly...	ORPHA:261318
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Talipes calcaneovalg...	ORPHA:2962
Noonan Syndrome	Low-set, posteriorly rotated ears, Short stature, Thickened helices, Micrognathia, Aplasia of the...	ORPHA:648
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, EEG abnormality, Progressive microce...	ORPHA:778
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Small hand, Macrocephaly, Short foot, Agitation, Abnormal autonomic nervous system ...	OMIM:617903
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Recombinant 8 Syndrome	Camptodactyly of finger, Micrognathia, Patellar aplasia, Deep plantar creases, Low-set ears, Clin...	ORPHA:96167
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephropathy, Nephroca...	OMIM:613404
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Optic atr...	OMIM:123500
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Structural foot deformity, Protruding ear, Clinodactyly of the 5th f...	ORPHA:464306
Parietal Foramina 1	Wormian bones, Macrocephaly	OMIM:168500
Peters-Plus Syndrome	Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limited elbow movement, Sho...	OMIM:261540
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Decreased body weight, Retrognathia, Prominent nose	OMIM:617926
Nephronophthisis 2	Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Wiskott-Aldrich Syndrome	Hyperostosis, Abnormal platelet function, Arthritis	ORPHA:906
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Bulbous nose, Large fontanelles, Ga...	OMIM:612940
Hydrolethalus Syndrome 1	Omphalocele, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand p...	OMIM:236680
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia,...	OMIM:619991
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Pes planus, Hyperactivity, Joint laxity, Aggressive behavior, Self-injurio...	ORPHA:449291
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co...	ORPHA:276621
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype...	OMIM:615108
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo...	OMIM:617746
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Absent nasal septal cartilage, Wide ...	OMIM:610828
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Increased femoral...	OMIM:609460
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Broad palm, Short ...	OMIM:269860
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Lower limb asymmetry, Cranial hyperostosis, Scoliosis	OMIM:612918
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density	ORPHA:1414
9P13 Microdeletion Syndrome	Microretrognathia, Short stature, Joint stiffness, Abnormality of cartilage of external ear, Recu...	ORPHA:324313
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val...	OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 45	Pes planus, Hyperactivity, Skin rash, Arachnodactyly, Slender build, Attention deficit hyperactiv...	OMIM:617600
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc...	OMIM:613686
Oculodentodigital Dysplasia	Ataxia, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle...	OMIM:164200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms...	ORPHA:353281
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Generalized joint laxity, Abnormal optic disc morphology, Hy...	ORPHA:508498
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Extra concha fold, Micrognathia,...	OMIM:209885
White-Sutton Syndrome	Ventral hernia, Joint laxity, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Short sta...	ORPHA:468678
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Hypoparathyroidism	ORPHA:496756
3Mc Syndrome 1	Omphalocele, Single interphalangeal crease of fifth finger, Hearing impairment, Microcephaly, Pos...	OMIM:257920
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Diaphyseal thickening	ORPHA:1551
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Arachnodactyly, Ro...	OMIM:201750
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of carpal bones, Advanced tars...	OMIM:215045
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Rett Syndrome	Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, EEG abnormality, ...	OMIM:312750
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Ag...	OMIM:610829
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Osteoporosis, Increased susc...	OMIM:612199
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath...	ORPHA:382
Okur-Chung Neurodevelopmental Syndrome	Inguinal hernia, Broad hallux, Ataxia, Micrognathia, Microcephaly, Cupped ear, Recurrent hand fla...	OMIM:617062
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l...	OMIM:231050
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Treacher-Collins Syndrome	Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Mu...	ORPHA:861
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Pes planus, Broad-based gait, Underdeveloped superior crus of antiheli...	ORPHA:369950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype...	OMIM:615109
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar flattening, Shor...	OMIM:601853
Hamamy Syndrome	Osteopenia, Hypoparathyroidism, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Cry...	OMIM:611174
Leprechaunism	Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal...	ORPHA:508
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Failure to thrive in infancy, Abnormal morphology of ulna, Short...	ORPHA:1340
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Prominent fingertip pads, Abnormal repetitive mannerisms	OMIM:617682
Lessel-Kreienkamp Syndrome	Gastroesophageal reflux, Wide cranial sutures, Dental malocclusion, Wide nasal bridge	OMIM:619149
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin...	ORPHA:235
Prolidase Deficiency	Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma...	ORPHA:742
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala...	OMIM:263650
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Gou...	ORPHA:90041
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Taper...	ORPHA:464311
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab...	ORPHA:3412
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Broad hallux, ...	OMIM:614188
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Hijazi-Reis Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms	OMIM:301094
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nose, Failure to thrive, Prominent metopic ridge, Prominent nose, Long nose, Micrognathia, M...	ORPHA:2995
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Delayed cranial suture clo...	OMIM:619127
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Microcephaly, Gait ataxia, Low-set ears, Umbilical hernia, Abnormal repetitive mannerisms, Joint ...	OMIM:616579
Adult-Onset Still Disease	Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Cartilage destruc...	ORPHA:829
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scolios...	OMIM:619269
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Cardiospondylocarpofacial Syndrome	Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital diaphragmatic hernia, Short...	OMIM:157800
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Micrognathia,...	OMIM:151050
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Microcephaly, Right unilambdoid synostosis, Bic...	OMIM:616602
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central incisor, Broad-based g...	OMIM:618067
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrocephaly	OMIM:618504
Floating-Harbor Syndrome	Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Aspartylglucosaminuria	Pes planus, Abnormal morphology of ulna, Joint stiffness, Pectus carinatum, Arthritis, Anterior b...	ORPHA:93
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased circulating renin level, ...	OMIM:214700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Dysmetria, Protruding ear, Gait ataxia, Sh...	OMIM:614756
Distal Deletion 15Q	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint la...	ORPHA:1596
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Pseudopseudohypoparathyroidism	Osteoporosis, Pseudohypoparathyroidism	OMIM:612463
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Ab...	ORPHA:2990
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Conjunctivitis, Chronic otitis media, Small earlobe, Prom...	OMIM:616268
Silver-Russell Syndrome 1	Small for gestational age, Delayed cranial suture closure, Micrognathia	OMIM:180860
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Short stature, Ataxia, Proximal placement of thumb, Postnatal ...	OMIM:616263
Silver-Russell Syndrome	Relative macrocephaly, Failure to thrive in infancy, Cachexia, Micrognathia, Obesity, Gastroesoph...	ORPHA:813
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Mandibular aplasia, Synotia, Narrow internal auditory canal, A...	ORPHA:990
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Limited elbow movement, Joint stiffness, Micrognathia, D...	OMIM:614008
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Overlapping toe, Tapered finger, Microcephaly, 2-3 toe syndactyly, Obesity, Low-...	OMIM:618653
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Bulbous nos...	ORPHA:261144
3Mc Syndrome	Abnormal pinna morphology, Hearing impairment, Craniosynostosis, Postnatal growth retardation, Hi...	ORPHA:293843
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Pes planus, Short stature, Overweight, Sensorineural hearing impairment, Head-banging, Macrocepha...	OMIM:619575
Wolf-Hirschhorn Syndrome	Micrognathia, Conductive hearing impairment, Intrauterine growth retardation, Abnormal repetitive...	OMIM:194190
Vacterl Association With Hydrocephalus	Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Absent thumb	OMIM:276950
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape...	OMIM:200990
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Microcephaly, Gastroesophageal reflux, Constipation	ORPHA:50
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly	OMIM:603467
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Posteriorly rotated ears, Tapered finger, Congenital diaphragma...	OMIM:301044
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Obesit...	OMIM:105830
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231632
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Hyperactivity, Gait ataxia, Macrocephaly, Macrotia, Abnormal repetitive ma...	OMIM:300486
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec...	OMIM:122470
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension	ORPHA:369873
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Rett Syndrome, Congenital Variant	Pes planus, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Talipes equinovarus, Br...	OMIM:613454
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microcephaly, Absent nares, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2166
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial i...	ORPHA:904
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Hypocalcemic tetany, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczemato...	ORPHA:83471
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture	OMIM:118650
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3....	OMIM:619317
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Oral-pharyngeal dysphagia, Short long bo...	OMIM:619184
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter...	OMIM:194050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetit...	ORPHA:353277
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Ataxia, Joint stiffness, Avascular necro...	ORPHA:581
Van Esch-O'Driscoll Syndrome	Short stature, Impulsivity, Microcephaly, Spina bifida occulta, Protruding ear, Growth delay, Mic...	OMIM:301030
Tenorio Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Gastroesophageal reflux, Recurrent aphthous s...	OMIM:616260
Transketolase Deficiency	Hearing impairment, Seborrheic dermatitis, Proportionate short stature, Uveitis, Self-injurious b...	ORPHA:488618
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:306542
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal rib m...	ORPHA:1163
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Joint l...	OMIM:619475
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529808
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Microcephaly, Macrotia, Prominent antihelix, Inappropriate laughter, Enamel hypopl...	OMIM:615802
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Helsmoortel-Van Der Aa Syndrome	Short 4th toe, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent fingertip pads, Ad...	OMIM:615873
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose, Fail...	OMIM:613038
Rhizomelic Chondrodysplasia Punctata	Limb undergrowth, Abnormal metaphysis morphology, Rhizomelia	ORPHA:177
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Thyroiditis, Palmoplantar hype...	OMIM:158350
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Primary adrenal in...	ORPHA:275761
Developmental And Epileptic Encephalopathy 2	Tapered finger, Inability to walk, Small hand, Hypsarrhythmia, Short foot, Abnormal repetitive ma...	OMIM:300672
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Ataxia, S...	ORPHA:280
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Kbg Syndrome	Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Rib fusion, Vertebral ...	OMIM:148050
Short Stature-Micrognathia Syndrome	Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, 2-3 toe syndactyl...	OMIM:617164
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, C...	OMIM:614437
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Short stature, Recurrent fractures, Hypoplasia of the maxil...	ORPHA:1775
Sarcoidosis	Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Abn...	ORPHA:797
Beckwith-Wiedemann Syndrome	Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra...	ORPHA:116
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Disl...	OMIM:102500
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co...	ORPHA:29072
Dpagt1-Cdg	EEG with generalized slow activity, Arachnodactyly, Lipodystrophy, Ataxia, Aggressive behavior, M...	ORPHA:86309
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Coxa valga, Long fingers, Flexion contracture, Flared metaphysis, Large...	OMIM:617561
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Vasculitis, Abnormal circulating interl...	ORPHA:70578
Zttk Syndrome	Relative macrocephaly, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Flexion contra...	OMIM:617140
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Growth delay, Hearing impairment	ORPHA:782
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Wide ant...	ORPHA:357058
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Cryptorchidism, Cardiomyopathy, Aminoaciduria, Arrhythmia	OMIM:249270
Hypertrichosis Cubiti	Rhizomelia, Micromelia	ORPHA:2220
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Eunuchoid habitus, Hypoplasi...	ORPHA:3044
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Umbilical hernia, Hearing impa...	OMIM:601499
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Microcephaly	OMIM:259410
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Short stature, Increased VLDL cholesterol concentration,...	OMIM:243800
Beta-Thalassemia	Abnormality of iron homeostasis, Reduced bone mineral density	ORPHA:848
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Attached earlobe, Mixed hearing impairme...	ORPHA:1299
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi...	ORPHA:254528
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Microcephaly, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperal...	ORPHA:927
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Aplasia/...	ORPHA:1225
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Otoonychoperoneal Syndrome	Popliteal pterygium, Abnormal diaphysis morphology, Knee flexion contracture	ORPHA:2793
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu...	ORPHA:477
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Overlapping...	ORPHA:79330
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, ...	ORPHA:464288
Hennekam-Beemer Syndrome	Wide nose, Camptodactyly of finger, Micrognathia, Long nose, Microcephaly, Wide nasal bridge, Vom...	ORPHA:2135
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Depressed nasal bridge, Constipation, Abnormal circulating thyroglobu...	ORPHA:95716
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge...	ORPHA:86822
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Growth delay, Mi...	ORPHA:920
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Microcephaly, Hair-pulling, Self-injurious behavior, Talipes equinov...	OMIM:616393
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria...	OMIM:604273
Bilateral Generalized Polymicrogyria	Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Abnormal repetit...	ORPHA:208447
Penoscrotal Transposition	Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia	ORPHA:2842
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Hearing impairment, Micrognathia, Short stature...	ORPHA:3338
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna	OMIM:144755
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Short stature, Slend...	ORPHA:2834
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Hallermann-Streiff Syndrome	Wormian bones, Abnormality of the hand, Micrognathia, Pectus excavatum, Hyperlordosis, Metaphysea...	OMIM:234100
Mercury Poisoning	Hypokalemia, Episodic vomiting, Nausea	ORPHA:330021
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension...	ORPHA:549
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Calvarial hyperostosis	OMIM:612714
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Short stature, Craniosynostosis, Limited wrist movement, Postna...	ORPHA:576
Aicardi Syndrome	Block vertebrae, Prominence of the premaxilla, Anteverted nares, Microcephaly	OMIM:304050
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Reduced subcutaneous adipose tissue, Pes planus, Joint laxity, Overlapping...	OMIM:617402
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Antecubital pter...	ORPHA:40366
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Posteriorly rotated ears, Short stature, Ataxia, Tapered finger, Microcephaly, ...	OMIM:617330
Prader-Willi Syndrome Due To Translocation	Micrognathia, Compulsive behaviors, Clinodactyly of the 5th finger, Abnormal repetitive mannerism...	ORPHA:177907
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Igg4-Related Thyroid Disease	Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Dysphagia, Hashimoto thyroiditis	ORPHA:64744
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Optic disc pallor, Aspiration pneumonia, Dysphagia, Loss of ambulatio...	ORPHA:79264
Prolactinoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo...	ORPHA:2965
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Posteriorly rotated ears, Small for gestational age, Tibial torsion, Short ...	OMIM:613355
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum	ORPHA:1035
Hydroxykynureninuria	Renal tubular acidosis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Microcephaly, Postnatal growth re...	OMIM:210900
1P36 Deletion Syndrome	Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Lo...	ORPHA:1606
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Coxa valga, Inability to walk, Achilles tendo...	ORPHA:404454
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	ORPHA:90790
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Head-banging, Low-set ears, Attention deficit hyperactivity ...	OMIM:619103
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,...	ORPHA:168491
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology	ORPHA:2028
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Aggressive behavior, Sensorineural hearing impairment, Hyperlipidemi...	ORPHA:293987
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M...	OMIM:610706
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, Abnormal repetitive mannerisms, Simple ear, Joint laxity, Short sta...	OMIM:619325
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max...	OMIM:211380
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611561
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism, Hypoplastic nipples, Arrhythmia	OMIM:273400
Tick-Borne Encephalitis	Stiff neck, Facial palsy, Elevated circulating C-reactive protein concentration, Anorexia, Vertig...	ORPHA:297
Meningococcal Meningitis	Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Hy...	ORPHA:33475
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Microcephaly, Bulbous nose, Wormian bones, Retrognathia	OMIM:618644
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly,...	OMIM:241800
Dpm1-Cdg	Sandal gap, Elevated circulating creatine kinase concentration, Micrognathia, Camptodactyly, Limb...	ORPHA:79322
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Ataxia, Equinus calcaneus, Repetitive compulsive ...	ORPHA:522077
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Dysphagia	ORPHA:79107
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Abnormality of the foot musculature, Thin ribs, Calf mus...	ORPHA:169189
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis, Thin clavicl...	OMIM:275210
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcinosis, Ren...	OMIM:208085
Werner Syndrome	Low back pain, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral ...	OMIM:277700
Glutamine Deficiency, Congenital	Hypoglutaminemia, Camptodactyly, Hyperammonemia, Micromelia	OMIM:610015
Monosomy 9Q22.3	Short neck, Pectus excavatum, Palmar pits, Kyphosis, Plantar pits, Abnormal rib morphology, Joint...	ORPHA:77301
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Weight l...	ORPHA:354
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Short...	ORPHA:85199
Peroxisome Biogenesis Disorder 13A (Zellweger)	Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Conjugated hype...	OMIM:614887
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Abnor...	ORPHA:1101
Lymphangiectasia, Intestinal	Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Sarcoidosis, Susceptibility To, 1	Bone cyst, Enlarged lacrimal glands, Hypercalciuria, Arthritis, Increased circulating antibody le...	OMIM:181000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Prominent fi...	OMIM:612474
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Limitation of joint mobility, Bell-shaped t...	ORPHA:254519
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Chronic constipation, Short nose, Broad...	OMIM:619383
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine...	ORPHA:1556
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Jerky head movements, Dysphagia	ORPHA:240103
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Long foot, Large for gestational age, Abnormal thumb morphology, Metatarsus addu...	ORPHA:500095
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, I...	OMIM:222700
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Increased head circumference, Conductiv...	ORPHA:821
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Ulnar dev...	OMIM:211750
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous...	ORPHA:364577
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Limb undergrowth	ORPHA:79243
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the knee, Osteoarthritis, Recurrent sinusitis, Narrow ma...	OMIM:130000
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Limite...	OMIM:101200
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Hyperhomocystinemia, Bell-shaped thorax,...	OMIM:614857
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Long nose, Chronic constipation, Short nose, Failure to thrive, Narrow nose, Narro...	OMIM:617602
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Flat acetabular roof, Abnormal mandible condylar process morphology, Genu valgum,...	ORPHA:2976
Cornelia De Lange Syndrome	Micromelia, Short neck, Proximal placement of thumb, Congenital diaphragmatic hernia, Clinodactyl...	ORPHA:199
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, Broad thumb, Brachydactyly	OMIM:612813
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Norrie Disease	Failure to thrive, Cachexia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Protr...	ORPHA:649
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Hypoplastic pubic ...	OMIM:210730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Arachnodactyly, Failure to thrive in infancy, Optic nerve hypoplasia, Abse...	ORPHA:500150
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentrati...	ORPHA:90068
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb...	OMIM:252930
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Short stature, Hypoplasia of the maxilla, Carious teeth, H...	ORPHA:50814
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Abnormal pelvic girdle bone morpho...	ORPHA:289
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Optic atrophy, Growth delay, Bilateral sensorineural hear...	ORPHA:66634
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Clinodactyly of th...	OMIM:618870
Alg9-Cdg	Microretrognathia, Low-set, posteriorly rotated ears, Omphalocele, Ulnar deviation of the hand, L...	ORPHA:79328
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	ORPHA:293978
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Singleton-Merten Syndrome 1	Osteopenia, Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dis...	OMIM:182250
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Primary hyperaldosteronism, Le...	OMIM:615474
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Familial Multiple Lipomatosis	Bowing of the long bones, Hyperlipidemia	ORPHA:199276
Achondrogenesis, Type Ib	Short ribs, Micromelia	OMIM:600972
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Hip dislocation, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Juvenile Polyposis Of Infancy	Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, Broad phalanx of the...	ORPHA:79076
Monosomy 22Q13.3	Hyperactivity, Recurrent skin infections, Hair-pulling, Dental malocclusion, Obesity, Macrocephal...	ORPHA:48652
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Dermotrichic Syndrome	Aminoaciduria, Hypohidrosis	ORPHA:99688
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Micrognathia, Large fontanelles, Retrognathia, Increased circulating very...	OMIM:261515
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Abnormal cranial nerve morph...	ORPHA:90024
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib...	OMIM:616546
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness	OMIM:252920
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Sho...	OMIM:619879
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Hearing impairment, Micro...	OMIM:606170
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t...	ORPHA:818
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe...	OMIM:276700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Micrognathia, Increased femoral anteversion, EEG abnormality, Attention deficit hyperactivity dis...	OMIM:619005
Achondrogenesis	Micromelia, Micrognathia	ORPHA:932
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Abnorma...	OMIM:300855
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,...	ORPHA:2907
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased serum seroton...	ORPHA:100080
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Methylmalonic aciduri...	OMIM:612073
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Clinodactyl...	ORPHA:3121
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bone morpholo...	OMIM:102700
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tap...	OMIM:619841
Immunodeficiency 49	Wormian bones, Natal tooth, Micrognathia	OMIM:617237
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Campomelia, Cumming Type	Bowing of the long bones	OMIM:211890
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage	ORPHA:169805
Shwachman-Diamond Syndrome 2	Metaphyseal widening, Anterior rib cupping, Metaphyseal irregularity, Genu varum	OMIM:617941
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Inguinal hernia, Toe syndactyly, Microcephaly, Hypoplasia of the maxilla, Carious teeth, Split ha...	OMIM:129900
Menkes Disease	Wormian bones, Decreased circulating ceruloplasmin concentration, Microcephaly	OMIM:309400
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac...	ORPHA:3380
Distal 22Q11.2 Microdeletion Syndrome	Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly of finger, Co...	ORPHA:261330
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Pes planus, Overlapping toe, Unsteady gait, Reduced bone mineral density, Scoliosis, Clinodactyly...	OMIM:616682
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension, Hyperhidrosis	ORPHA:83317
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Microgn...	OMIM:208150
Orofaciodigital Syndrome Type 1	Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe,...	ORPHA:2750
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn...	ORPHA:247815
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f...	OMIM:604292
Houge-Janssens Syndrome 3	Inguinal hernia, Microcephaly, Self-injurious behavior, Attention deficit hyperactivity disorder,...	OMIM:618354
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Delayed closure of the anter...	OMIM:607812
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Posteriorly rotated ears, Short stature, Tapered finger, Carious teeth, Short thumb, M...	OMIM:619522
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a...	ORPHA:63259
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased...	ORPHA:100082
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial...	ORPHA:261112
Developmental And Epileptic Encephalopathy 100	Micrognathia, Bilateral camptodactyly, Small hand, Elbow flexion contracture, EEG with photoparox...	OMIM:619777
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Short nec...	OMIM:613610
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Micrognathia, Wormian bones, Malar flattening	ORPHA:2789
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Gastroesophageal reflux, Vomiting, Failure to thrive	OMIM:618426
Benign Schwannoma	Facial palsy, Hearing abnormality, Vertigo, Abnormal fibula morphology, Abnormality of the twelft...	ORPHA:252164
Cloacal Exstrophy	Abnormal tibia morphology, Absent foot, Hip dislocation, Abnormal fibula morphology, Hemivertebra...	ORPHA:93929
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr...	ORPHA:740
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ...	ORPHA:1855
Dextrocardia	Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly	ORPHA:2107
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Hair-pulling, Hypsarrhythmia, Protruding ear, Seconda...	ORPHA:447997
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc...	ORPHA:36238
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Teratoma, Pineal	Polyuria	OMIM:273120
Hallermann-Streiff Syndrome	Recurrent fractures, Micrognathia, Small hand, Reduced bone mineral density, Short foot, Rib exos...	ORPHA:2108
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Diarrhea, Elevate...	ORPHA:99826
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Micrognathia, Missing ribs, ...	ORPHA:97360
Cystic Fibrosis	Exocrine pancreatic insufficiency, Pancreatitis, Hypercalciuria, Steatorrhea	OMIM:219700
Pontine Tegmental Cap Dysplasia	Ataxia, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis	OMIM:614688
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Micrognathia, Absent...	ORPHA:2363
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosi...	ORPHA:99827
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Arth...	ORPHA:3452
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock, Increased cir...	ORPHA:100075
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Hartsfield Syndrome	Wide nose, Craniosynostosis, Microcephaly, Hypernatremia, Hypoplasia of the frontal bone	OMIM:615465
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Micrognathi...	OMIM:230740
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Abnormal circulating thyroglobulin level, Con...	ORPHA:90674
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Alstrom Syndrome	Pes planus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperostosis...	OMIM:203800
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly	OMIM:611134
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:2655
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ...	OMIM:618529
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Camptodacty...	OMIM:214110
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Jerky head movements, Microcephaly	OMIM:245348
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Xerostomia, Failure to thrive	ORPHA:238468
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Osteoporosis, Osteolysis, Hypotension, Patholog...	ORPHA:98850
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Huntington Disease-Like 3	Abnormal head movements, Progressive gait ataxia, Flexion contracture, Broad-based gait	ORPHA:157946
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:90793
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Short distal phalanx of finger, Broad thumb, Brachydactyly	ORPHA:1784
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Hypertriglyceridemia, Rocker ...	ORPHA:79474
Lead Poisoning	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Cranial hyperos...	ORPHA:330015
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl...	ORPHA:2908
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla	OMIM:313500
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral...	ORPHA:228123
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Absent nasal septa...	OMIM:157170
Beta-Ketothiolase Deficiency	Ketonuria, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension	ORPHA:134
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ...	OMIM:615368
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
D-Glyceric Aciduria	Aminoaciduria, Bradycardia, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the ...	OMIM:278250
Lateral Meningocele Syndrome	Vertebral fusion, Micrognathia, Wormian bones, Malar flattening, Short nasal bridge	OMIM:130720
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Congenital hip dislocation, Short stature, Carious teeth, Vertigo, Aplasia/Hypop...	ORPHA:286
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Abnormal ...	ORPHA:261537
Fryns Syndrome	Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Single transverse palmar crea...	OMIM:229850
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypoplasia of the p...	OMIM:617063
Netherton Syndrome	Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu...	ORPHA:634
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Mowat-Wilson Syndrome	Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Conductiv...	ORPHA:2152
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, 3-Methylgl...	ORPHA:20
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Hypertriglyceridemia, Small for gestational age, E...	OMIM:619573
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Cranial hyperostosis	OMIM:601345
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Schisis Association	Micromelia	ORPHA:63862
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Micrognathi...	OMIM:249000
Microcephalic Primordial Dwarfism, Dauber Type	Clinodactyly of the 5th finger, Limb undergrowth, Abnormal carpal morphology, Short middle phalan...	ORPHA:319675
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Nelson Syndrome	Hypokalemia, Optic nerve compression, Quadriceps muscle atrophy	ORPHA:199244
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:95494
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, S...	OMIM:164210
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Myocardi...	ORPHA:466677
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina...	ORPHA:217085
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi...	OMIM:612651
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone	ORPHA:563612
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina...	ORPHA:217093
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly	OMIM:614800
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Pheochromocytoma	Hypercalcemia	OMIM:171300
Nipah Virus Disease	Hypotension	ORPHA:99825
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Epiphyseal stippling, Aminoaciduria, Albuminuria...	OMIM:214100
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Abnormal cartilage morphology, Osteolysis, M...	ORPHA:2396
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha...	OMIM:616331
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contracture, Abnormal ...	ORPHA:261552
Perry Syndrome	Hypotension	ORPHA:178509
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Hypomanganesemia, Abnormal blood zinc concentration	ORPHA:468699
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly, Ab...	ORPHA:488632
Menkes Disease	Bowing of the long bones, Tarsal synostosis, Micrognathia, Wormian bones, Abnormal metaphysis mor...	ORPHA:565
Alexander Disease	Osteopenia, Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertens...	ORPHA:58
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Delayed cranial suture closure, Wide nasal bridge,...	OMIM:601088
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Abnormal circulating lipid concentration	OMIM:616541
Necrotizing Enterocolitis	Hyponatremia, Shock, Bradycardia, Hypotension	ORPHA:391673
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palmar crease, Micrognathia, C...	ORPHA:83617
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Depressed nasal tip, Delaye...	OMIM:620005
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte...	OMIM:606721
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ...	OMIM:229400
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase...	OMIM:619055
Pallister-Hall Syndrome	Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly a...	ORPHA:672
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ...	OMIM:207900
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, ...	ORPHA:2637
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Ovarian neoplasm, Adrenocorticotropic hormone excess, Palpitati...	ORPHA:100079
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Inhalational Anthrax	Internal hemorrhage, Hypotension, Abnormal sweat gland morphology	ORPHA:247257
Interstitial Lung And Liver Disease	Aminoaciduria, Hypothyroidism, Intraalveolar phospholipid accumulation, Hyperammonemia	OMIM:615486
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, 2-3 toe syndactyly, Mesomelia, Clinodactyly of the 5th finger, Metaphyseal irregulari...	OMIM:618162
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Decreased circulating antibody level	OMIM:616084
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Kyphos...	OMIM:309800
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Geleophysic Dysplasia 3	Limb undergrowth, Short foot, Brachydactyly	OMIM:617809
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Tibial bowing, Mesomelia, Rhizomelia, Femoral bowing	OMIM:616482
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Limb undergrowth, Talipes equinovarus	OMIM:619124
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Aymé-Gripp Syndrome	Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Large fontanelles, Radioulnar ...	ORPHA:1272
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone,...	OMIM:306955
Curry-Jones Syndrome	Wormian bones, Bicoronal synostosis, Chronic constipation, Unicoronal synostosis	OMIM:601707
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus...	OMIM:607872
Leptospirosis	Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su...	ORPHA:509
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Osteoporosis, Increased susceptibility to fractures, Syncope, Hypotension	ORPHA:98849
Witteveen-Kolk Syndrome	Microretrognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, U...	OMIM:613406
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Wormian bones, Joint subluxation, Hip dislocation	OMIM:617821
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ...	OMIM:606812
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Childhood Absence Epilepsy	Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hyperactivity disorder, Je...	ORPHA:64280
Mandibuloacral Dysplasia With Type A Lipodystrophy	Wormian bones, Hyperlipidemia, Large fontanelles	ORPHA:90153
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Depressed nasal ridge, Wide nasal bridge, Delayed cranial suture closure	ORPHA:2211
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum	ORPHA:1552
Smith-Lemli-Opitz Syndrome	Microretrognathia, Hyperactivity, Overlapping toe, Micromelia, Aggressive behavior, Metatarsus ad...	OMIM:270400
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Finger clinodactyly, Talip...	ORPHA:99776
Hunter-Macdonald Syndrome	Premature osteoarthritis, Large fontanelles, Cubitus valgus, Joint contracture of the hand, Malar...	OMIM:611962
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Micrognathia, Carious teeth, Prominent nose, Bulbous no...	OMIM:150230
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Depressed nasal bridge, Overweight, Constipation, Abnormal circulatin...	ORPHA:226307
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Clinodactyly, Short phalanx of finger, Broad thumb, Camptoda...	OMIM:616894
Meckel Syndrome	Bowing of the long bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Po...	ORPHA:564
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Medulloblastoma	Progressive macrocephaly, Delayed cranial suture closure	ORPHA:616
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth	OMIM:618005
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint dislocation, Large fontanelles, Short columella, Constipation, Short nos...	OMIM:601776
Microsporidiosis	Osteomyelitis, Myocarditis, Abnormality of the parathyroid gland, Urethritis, Thyroiditis, Abnorm...	ORPHA:2552
Desmosterolosis	Metatarsus adductus, Micromelia, Micrognathia	ORPHA:35107
Poliomyelitis	Hypertension, Hypovolemic shock, Stiff neck, Hypotension	ORPHA:2912
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Precocious puberty, Osteoporosis, Osteolysis, Renovascula...	ORPHA:97685
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Telangiectasia of the skin, Cryptorchidis...	ORPHA:910
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog...	ORPHA:141099
Sandifer Syndrome	Abnormal head movements, Esophagitis, Hiatus hernia	ORPHA:71272
Autosomal Recessive Cutis Laxa Type 1	Microcephaly, Wide anterior fontanel, Hip dislocation, Joint subluxation, Delayed cranial suture ...	ORPHA:90349
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage, Adrenal insufficienc...	ORPHA:90062
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca...	OMIM:256520
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Hyperhidrosis	OMIM:608643
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Overlapping toe	ORPHA:99843
Chromosome 14Q11-Q22 Deletion Syndrome	Mesomelia, Micrognathia	OMIM:613457
Autosomal Dominant Cutis Laxa	Genu recurvatum, Microcephaly, Hip dislocation, Vomiting, Wormian bones, Delayed cranial suture c...	ORPHA:90348
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro...	ORPHA:3107
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ...	OMIM:609242
X-Linked Intellectual Disability, Armfield Type	Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria, Limited elbow extension	ORPHA:85276
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Micromelia	OMIM:200995
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Hypertrophic cardi...	OMIM:124000
Thauvin-Robinet-Faivre Syndrome	Large hands, Large for gestational age, Long hallux, Bowing of the legs	OMIM:617107
Branchiooculofacial Syndrome	Depressed nasal bridge, Micrognathia, Broad nasal tip, Microcephaly, Cleft of chin, Elbow flexion...	OMIM:113620
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, EEG with temporal sharp slow wa...	ORPHA:217253
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Pseudohypoparathyroidism, Renal hypoplasia	OMIM:617157
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Pallister-Killian Syndrome	Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Anteverted nares, D...	OMIM:601803
Dihydropyrimidine Dehydrogenase Deficiency	Micromelia	ORPHA:1675
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Hip dislocation, Gastroesophageal reflux, C...	ORPHA:285
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo...	ORPHA:1308
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Short foot, Shor...	ORPHA:93271
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Alström Syndrome	Pes planus, Thoracic scoliosis, Hypertriglyceridemia, Ataxia, Kyphosis, Short toe, Hyperlipidemia...	ORPHA:64
Plague	Tachycardia, Hematemesis, Arthritis, Hypotension, Arrhythmia	ORPHA:707

Histopathology

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

There is no histopathology data for Phex

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 Phex.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PHEX^L222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.	Genes (July 2022)	Phex^{tm1(KOMP)Vlcg} Phex^{tm1e(KOMP)Wtsi}	PMC9407253

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Phex^{tm41138(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Phex^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Phex^{tm41138(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Phex^{tm295268(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Phex^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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