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Gene: Tnfsf11 MGI:1100089

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tumor necrosis factor (ligand) superfamily, member 11

Synonyms:

Trance, RANKL, Ly109l, OPGL, osteoclast differentiation factor, ODF

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnfsf11 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 Tnfsf11 (2 diseases)
Human diseases predicted to be associated with Tnfsf11 (2205 diseases)

The table below shows human diseases associated to Tnfsf11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 2		Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Autosomal Recessive Malignant Osteopetrosis		Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667

The table below shows human diseases predicted to be associated to Tnfsf11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler...	OMIM:607634
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Sandwich appearance o...	OMIM:259700
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Recurrent fra...	ORPHA:210110
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, A...	ORPHA:2645
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Microcephaly, Splenomegaly, Abnormal limb bone morp...	ORPHA:2204
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Failure to thrive...	OMIM:615198
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Macrocephaly, Failure to thrive, Thrombocytopenia	OMIM:615085
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa...	ORPHA:172
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali...	ORPHA:2501
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor...	ORPHA:79106
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de...	OMIM:259720
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda...	OMIM:620366
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr...	ORPHA:2780
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Macrocephaly	ORPHA:178377
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Desmosterolosis	Increased bone mineral density, Epicanthus, Talipes, Micromelia, Micrognathia, Metatarsus adductu...	ORPHA:35107
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retar...	OMIM:618541
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Sho...	ORPHA:71267
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Micrognathia, Macrocephaly, Osteopetrosis,...	OMIM:617306
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho...	OMIM:118651
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas...	ORPHA:63442
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Reduced bone miner...	OMIM:619322
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Acrootoocular Syndrome	Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Short metacarpal, S...	ORPHA:2980
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea...	OMIM:259730
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic sple...	OMIM:602361
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:264700
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl...	OMIM:144750
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Diaphragmatic eventration	OMIM:600252
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossif...	OMIM:618476
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Hypocalcemic tetany, Microcephaly, Carious te...	ORPHA:93324
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Fai...	ORPHA:3238
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormal...	ORPHA:93160
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal...	OMIM:244460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of ...	ORPHA:502
Winchester Syndrome	Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca...	OMIM:277950
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Diastrophic Dysplasia	Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t...	ORPHA:628
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisor...	ORPHA:2063
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Hypoplasia of the primary teeth, Thick lower lip vermilion, Oste...	OMIM:234250
Odontochondrodysplasia 1	Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Osteo...	OMIM:184260
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta...	ORPHA:289157
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology...	ORPHA:1133
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Short metatarsal, Osteopo...	OMIM:612463
Pycnodysostosis	Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si...	OMIM:265800
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Diastema, Agenesis of molar, Sup...	OMIM:619718
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane...	ORPHA:77297
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal bone ossifica...	ORPHA:163649
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpa...	ORPHA:476126
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ...	OMIM:113300
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac...	OMIM:613849
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Wormian bones,...	OMIM:269300
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism,...	OMIM:618440
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Calcinosis, Hypo...	ORPHA:2909
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia...	ORPHA:89937
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Abno...	ORPHA:47
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, H...	ORPHA:175
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr...	ORPHA:40
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Increased circulating IgE l...	OMIM:617241
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni...	OMIM:231095
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contract...	ORPHA:800
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Pseudohypop...	OMIM:612462
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat...	OMIM:617913
Legg-Calvé-Perthes Disease	Cartilage destruction, Short stature, Abnormality of the dentition	ORPHA:2380
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Short stature, Kyphoscol...	OMIM:614727
Spinocerebellar Ataxia, Autosomal Recessive 20	Relative macrocephaly, Hepatomegaly, Delayed eruption of teeth, Epicanthus, Dental crowding, Kyph...	OMIM:616354
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca...	ORPHA:2785
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
12Q14 Microdeletion Syndrome	Micrognathia, Microcephaly, Abnormality of the spleen, Osteopoikilosis, Synophrys, Downturned cor...	ORPHA:94063
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Agammaglobulinemia, Dec...	OMIM:300400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ankle flexion contracture, Micrognathia, High, narrow palate, Small hand, Upper limb ...	OMIM:608799
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa...	OMIM:250250
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o...	ORPHA:3473
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hy...	ORPHA:436
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis, Muscular dystrophy	OMIM:204730
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Prematu...	OMIM:156510
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Ab...	ORPHA:1798
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Growth delay, Decreased testicular size, Thrombocytopenia, Adducted thumb	OMIM:601815
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt...	ORPHA:77259
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Trismus...	OMIM:616583
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle...	OMIM:241410
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Persistence of hemog...	OMIM:612561
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Short stature, Coxa valga, Cone-shaped epiph...	ORPHA:166272
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Thin upper lip vermilion, Eosin...	ORPHA:353298
Slc35A2-Cdg	Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ...	ORPHA:356961
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy...	OMIM:181350
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger...	ORPHA:2787
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Kypho...	ORPHA:137834
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Short Stature, Brussels Type	Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of...	ORPHA:2867
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Microcephaly, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscle...	OMIM:613156
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Microc...	ORPHA:2919
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Joint stiffness, Abnormal muscle fiber morphology, Joint...	ORPHA:598
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Reduced bone mineral density, Decreased body weight, Limitation of knee mobility,...	OMIM:614856
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Joint stiffness, Microcephaly, Limb-girdle muscle weakne...	OMIM:609308
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemic ...	OMIM:277440
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Hypocalcemia, Finger syndactyly, Abnormal dental...	ORPHA:2136
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams...	OMIM:613205
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia, T...	OMIM:612563
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture...	ORPHA:324604
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy o...	ORPHA:2323
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
Ck Syndrome	Slender build, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, High palate,...	OMIM:300831
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate prod...	OMIM:615631
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Abnormal...	ORPHA:2169
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Hypoplasia of the maxilla, Genu valgum,...	OMIM:608154
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal res...	ORPHA:94089
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Hepatomegaly, A...	OMIM:224120
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Epicanthus, Hypercalcemia, Hyperlordosis, Abnormality of the dentition, Ol...	ORPHA:557003
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Coxa valga, Micrognathi...	OMIM:214150
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Roifman Syndrome	Downturned corners of mouth, Irregular vertebral endplates, Clinodactyly of the 5th finger, Hepat...	OMIM:616651
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Stomatitis, Short stature, Postnatal growth retardation, Osteoporosi...	OMIM:212750
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Increased overbite, Campto...	OMIM:618761
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti...	ORPHA:1787
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co...	ORPHA:69087
Infantile Liver Failure Syndrome 1	Long toe, Hepatomegaly, Macrocytic anemia, Long fingers, Hepatic steatosis, Anemia	OMIM:615438
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber...	OMIM:226670
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig...	ORPHA:2108
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Relative macrocephaly, Congenital hip dislo...	OMIM:614450
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation...	OMIM:268400
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Brachycephaly, Trichomegaly, And Developmental Delay	Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v...	OMIM:617412
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis,...	OMIM:241500
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Abnormal...	OMIM:610967
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Large fontanelles, Decrease...	ORPHA:2097
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Delayed eruption o...	OMIM:218400
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo...	OMIM:194350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pos...	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Microcephaly, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular ...	OMIM:613155
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Ulna...	OMIM:620076
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi...	ORPHA:2370
Adenocarcinoma Of The Esophagus	Obesity, Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b...	OMIM:620269
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia	OMIM:243320
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Lymphadenopathy, Weight lo...	ORPHA:2905
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:229050
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, R...	OMIM:300484
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosinophilia, Hi...	OMIM:147060
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage...	OMIM:156550
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Dis...	ORPHA:263463
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Recurrent respiratory infections, Short toe, Abnormal long bone morphology, Abnormal pelvic girdl...	OMIM:259270
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co...	ORPHA:2484
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Hypop...	ORPHA:96334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Gingivitis, Pre...	OMIM:618107
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Platyspond...	OMIM:259440
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp...	ORPHA:10
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty replacement of skeletal muscle, Achi...	ORPHA:370980
Alpha-Mannosidosis	Mandibular prognathia, Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Recurre...	ORPHA:61
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis...	ORPHA:970
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Hypogonadism, Cubitus valgus, Congenital muscular dystrophy, Decreased te...	ORPHA:1875
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Cleft p...	OMIM:620210
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Cranioectodermal Dysplasia 1	High, narrow palate, Hepatic fibrosis, Hypocalcemia, High palate, Widely spaced teeth, Microdonti...	OMIM:218330
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Obesity, ...	OMIM:103580
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hall-Riggs Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Joint stiffness, Dow...	ORPHA:2107
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Distal joint laxity, Flexion...	OMIM:254090
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ...	OMIM:256050
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope...	ORPHA:227990
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thic...	OMIM:102370
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Marinesco-Sjögren Syndrome	Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy...	ORPHA:559
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Hashimoto thyroiditis, Alopeci...	ORPHA:227982
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone sti...	OMIM:614732
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persi...	OMIM:300946
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Microgna...	ORPHA:3409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, High palate, Scoliosis	OMIM:611225
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint laxity, Centrally nucleated skeletal muscle fibers, Angulated muscle fibers, High palate, M...	OMIM:617066
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Cleft palate, Growth delay, Increased m...	OMIM:612562
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Relative mac...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Small for gestational age, Rhiz...	OMIM:607143
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bi...	ORPHA:2671
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f...	OMIM:613818
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Limited shoulder mo...	ORPHA:62
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Micrognathia, High, narrow palate, Knee flexion contractu...	ORPHA:79322
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth, Failure to thrive	OMIM:620007
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal...	ORPHA:3035
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo...	ORPHA:85198
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short stature, Small for gestational age, Micrognathia, Postnatal grow...	ORPHA:73272
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo...	OMIM:146000
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Immunodeficiency 27A	Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatospl...	OMIM:209950
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Birk-Aharoni Syndrome	Cryptorchidism, Macrocytic anemia, Thick eyebrow, Micrognathia	OMIM:620071
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Long hall...	ORPHA:420561
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoli...	ORPHA:276630
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Microcephaly, Supernumerary tooth, Abnormality of masseter muscle,...	ORPHA:314621
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ...	OMIM:255320
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ...	ORPHA:97289
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Microcephaly, Large fontanelles, Gingival overgrowth, Gingival fibromatosis, Mandib...	ORPHA:1832
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Coxa valga, Short nec...	ORPHA:582
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Postaxial hand polydactyly, P...	ORPHA:1655
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Congenital bilateral hip dislocation, Kyphosis, Short stature	ORPHA:85288
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Failure to...	OMIM:608971
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Short stature, Abnormal ...	ORPHA:1458
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Severe short stature, Small for g...	OMIM:612921
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren...	ORPHA:2050
Double Outlet Right Ventricle	Hypoparathyroidism, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cleft ...	ORPHA:3426
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
48,Xxxy Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal social behavior, Abnormal dental ...	ORPHA:96263
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Camptodactyly of finger, ...	ORPHA:1327
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,...	OMIM:612714
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Microcephaly, Achille...	OMIM:606612
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Skeletal muscle atrophy, Tented upper lip vermilion, Internally nucleated skeletal ...	ORPHA:98905
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co...	OMIM:217150
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the wrist, Abnormal thumb morphology, Abnorm...	ORPHA:2511
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Tru...	ORPHA:633
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Joint contracture, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy	OMIM:616516
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp...	ORPHA:3098
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Microcephaly, Limb-girdle muscle weakness, Myopathy, ...	ORPHA:86812
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Short stature, Micrognathia, Sparse eyebrow, Cleft palate, Low posterior hairl...	OMIM:606164
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Orofaciodigital Syndrome Ix	Telecanthus, Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality...	OMIM:258865
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R...	ORPHA:289176
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Gin...	ORPHA:2591
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Pitt-Hopkins Syndrome	Tapered finger, Short neck, Postnatal growth retardation, Broad fingertip, Small hand, Short meta...	ORPHA:2896
Gapo Syndrome	Hepatomegaly, Epicanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel,...	OMIM:230740
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	ORPHA:34515
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide a...	OMIM:617925
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Short stature, Microcytic anemia, Deep philtrum, Hepatosplenomegaly, Lymph...	OMIM:619750
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Calf muscle hypertrophy, Macroglossia, Muscular dystrophy, Talipes equin...	OMIM:616827
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Cryptorchidism,...	ORPHA:85279
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Miyoshi Muscular Dystrophy 3	Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph...	OMIM:613319
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph...	ORPHA:221016
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Recurrent si...	OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Camptodactyly of finge...	ORPHA:610
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal dental en...	ORPHA:2325
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Broad h...	OMIM:614188
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conjunctivitis,...	ORPHA:36913
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Cleft upp...	ORPHA:915
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge...	ORPHA:2616
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,...	ORPHA:417
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Facial palsy, Metaphyseal widening, Cranial hyperostosis,...	OMIM:123000
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Micrognathia, Tapered finger, Thin vermilion border, Hypocalcemia, Long phi...	ORPHA:1438
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Short stature, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia	ORPHA:1237
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Hao-Fountain Syndrome	Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial...	OMIM:616863
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Narrow mouth, Fibular hy...	OMIM:201170
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal eyelid morphology, Abnormal lung lobation, Hypoplasia of the thymus, Hypoc...	ORPHA:567
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang...	OMIM:619269
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive i...	ORPHA:37042
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi...	OMIM:257850
Rhabdoid Tumor	Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ...	ORPHA:93296
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hypercalcemia, Microgn...	OMIM:156400
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Pleural ...	ORPHA:90362
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Microce...	OMIM:615352
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm...	OMIM:618658
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Persistence of primary teeth, Microcephaly, Thick lower lip vermil...	OMIM:618342
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro...	OMIM:612954
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Congenital muscular dystrophy, Muscular dystrophy, Microcephaly	OMIM:613151
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Cryptorchidism, Fibular hypoplas...	OMIM:612447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cleft palate, Microcephaly	OMIM:615350
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Hepato...	OMIM:253200
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac win...	OMIM:235510
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h...	OMIM:602557
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Small for gestational...	OMIM:616229
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis, An...	OMIM:175500
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed...	ORPHA:50814
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay...	ORPHA:2409
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel...	ORPHA:50945
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Short stature, Cleft upper lip, Cryptorchidism, Lo...	OMIM:614294
49,Xxxxy Syndrome	Mandibular prognathia, Shyness, Clinodactyly of the 5th finger, Abnormal dental enamel morphology...	ORPHA:96264
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Microcephaly, Wide mouth, Delayed eruption of perman...	OMIM:618506
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis, Osteoporosis, S...	ORPHA:48431
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Hypocalcemic tetan...	ORPHA:93325
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Cardiomegaly, Narrow palate, Femoral bowing, Macroglossia, Short long b...	OMIM:617022
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Osteomalacia, Micromelia, Recurr...	ORPHA:2176
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Spondylometaphyseal Dysplasia, Kozlowski Type	Elbow flexion contracture, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypop...	OMIM:184252
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ...	OMIM:611588
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:603909
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Long hallux, Increased...	OMIM:259775
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:160
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Hepatomegaly, Periana...	OMIM:612541
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Muscular dystrophy, Distal...	ORPHA:459033
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Abnormal muscle fiber m...	OMIM:175700
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr...	OMIM:239200
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Open mouth, Calvarial hyperostosis, Lymphangioma, Mandibular h...	OMIM:176920
Cog7-Cdg	Hepatomegaly, Small for gestational age, Short neck, Postnatal growth retardation, Long fingers, ...	ORPHA:79333
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Abnormal pul...	ORPHA:35687
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature, Osteoporosis	ORPHA:2786
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High palate, Emphysema, ...	OMIM:613658
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal...	OMIM:601812
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosi...	OMIM:257200
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,...	OMIM:158900
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p...	OMIM:611209
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Premature ovarian insufficiency, Decrea...	ORPHA:199299
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu var...	OMIM:615777
Adult-Onset Still Disease	Hepatomegaly, Abnormal circulating lipid concentration, Neutrophilia, Generalized lymphadenopathy...	ORPHA:829
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Short philtrum, Hypocalcemia, Long toe, Abs...	ORPHA:163979
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Ulnar deviation of the hand, Telecanthus, Micrognathia, Microcephaly, Wide anterior f...	OMIM:263210
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Short stature, Thiamine-responsive megaloblastic anemia,...	OMIM:249270
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata...	ORPHA:79301
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G...	ORPHA:3210
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bone mineral dens...	ORPHA:2617
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Small for gestational age, Short neck, Wide distal femoral ...	OMIM:613320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy	OMIM:601287
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy	OMIM:310095
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Triphalangeal thumb, Normochromic anemia	OMIM:615550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300554
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Cofs Syndrome	Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Joint stiffness, Microcephaly, Ev...	ORPHA:1466
Ruvalcaba Syndrome	Short metacarpal, Short stature, Dental crowding, Kyphosis, Limited elbow extension, Small hand, ...	OMIM:180870
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchidism, Scol...	ORPHA:2886
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,...	OMIM:214110
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive	OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis	OMIM:300434
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Thin vermilion border, Hypogonadis...	OMIM:608540
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nas...	ORPHA:3369
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Small for gestational age, Broad hallux, Micrognathia, Microcephaly, Wid...	OMIM:614541
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermili...	OMIM:300602
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, High palate, Lambdoidal...	OMIM:616294
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Congenital muscular dystrophy	OMIM:254000
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Kyphosis, Split hand, Recurrent pneumonia,...	OMIM:309900
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb...	OMIM:607095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Hypoglycosylation of alpha-dystroglycan, Microcephaly, Generalized limb muscle atrophy, Muscular ...	OMIM:615351
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, Increased circulating IgE level, T lymphocytope...	ORPHA:277
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Decrea...	ORPHA:93950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ...	ORPHA:93315
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, High palate, Camptodactyly, Arthrogryposi...	OMIM:618393
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Felty Syndrome	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Thrombocytopenia, Splenomegaly, Recurr...	ORPHA:47612
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Arachnodactyly, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypopitu...	OMIM:619013
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level...	ORPHA:98813
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A...	OMIM:617952
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly	ORPHA:796
Autosomal Dominant Optic Atrophy, Classic Form	Hypothyroidism, Macrocytic anemia, Diabetes mellitus, Hypogonadism	ORPHA:98673
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Anemia of inadequate production, A...	OMIM:614900
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Mesomelic/rhizomelic...	ORPHA:2347
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa...	OMIM:619736
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cohen Syndrome	Short metacarpal, Small for gestational age, Facial hypotonia, Tapered finger, Micrognathia, Hypo...	OMIM:216550
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion cont...	OMIM:604416
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Hip dislocati...	ORPHA:75840
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cubitus valgus, Short thumb, Submucous c...	ORPHA:2712
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Biparietal narrowing,...	ORPHA:818
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi...	OMIM:169400
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamarto...	OMIM:258860
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of...	OMIM:607812
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Abnormal fibula morphology, ...	ORPHA:1988
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro...	OMIM:112240
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Wormian bones, Decreased fi...	OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Muscular dystrophy	OMIM:616094
Craniofacioskeletal Syndrome	Absent gallbladder, Pes planus, Thin upper lip vermilion, Micrognathia, Microcephaly, Cryptorchid...	OMIM:300712
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Broad hallux, Dental crowding, Avascular necrosis of the capital femor...	ORPHA:353281
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, S...	ORPHA:583
Coffin-Siris Syndrome 3	Joint laxity, Microcephaly, Central diaphragmatic hernia, Short distal phalanx of the 5th finger,...	OMIM:614608
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Growth delay, Thick...	ORPHA:505652
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Ankle swelling, Leukocytos...	ORPHA:3260
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High palate, Short p...	ORPHA:254531
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Micrognathia, Folate-unresponsive megaloblastic anemia, Megalobl...	ORPHA:2575
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho...	ORPHA:169079
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral...	OMIM:166220
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sandal gap, Microcephaly, Cryptorchidism, Thick lower lip vermilion, C...	OMIM:614607
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin...	OMIM:126550
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Areflexia of lower limbs, Elevated circulating creatine kinase concentration, Ankle...	OMIM:615883
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec...	OMIM:619503
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Selective tooth agenesis, Microcytic anemia, Micrognathi...	ORPHA:2959
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Scoliosis	OMIM:616756
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion...	ORPHA:536516
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Microcephaly, Narrow mouth, Delayed eruption of permanent teeth, Short distal phala...	OMIM:619356
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Thoracic kyphosis, Conjunctivitis, ...	ORPHA:33364
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Flex...	OMIM:215150
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Short neck, Abnorma...	ORPHA:884
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba...	OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 26	Short stature, Small for gestational age, Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Shor...	OMIM:615834
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,...	OMIM:300534
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Progressive ...	OMIM:252500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Spina bifida occu...	OMIM:105650
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg...	ORPHA:235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Anemia, Lymphadenopathy, ...	OMIM:613101
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan...	OMIM:619148
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Osteomalacia, Hepatitis, Abnormal facial skeleto...	ORPHA:562
Pancreatic Colipase Deficiency	Growth delay, Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal...	ORPHA:198
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Micrognathia, Reticulocytopenia, Cleft palate, Growth delay, St...	OMIM:613309
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten...	ORPHA:86818
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor...	ORPHA:3353
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, High palate, Increased variability in muscle fiber diameter, C...	OMIM:616470
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal widening, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Juvenile rhe...	OMIM:607944
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Dental crowding, Small for gestational age, Diastasis recti, Delayed closu...	ORPHA:231140
Hamamy Syndrome	Osteopenia, Microcytic anemia, Micrognathia, High palate, Sparse hair, Clinodactyly of the 5th fi...	OMIM:611174
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys...	ORPHA:90653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope...	OMIM:102700
Muscular Dystrophy, Becker Type	Calf muscle pseudohypertrophy, Muscular dystrophy	OMIM:300376
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Dental maloccl...	ORPHA:2471
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, ...	OMIM:208900
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Pancytopenia, Hepatomegaly, Short stature, Megaloblastic anemia, Anemia...	OMIM:277380
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity	ORPHA:391
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, Abnormality of b...	ORPHA:861
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardat...	OMIM:619751
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal...	OMIM:210600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Macrocephaly, Wide mouth, High palate...	OMIM:618825
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy	OMIM:253590
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Decreased proportion of memory B cells,...	OMIM:618048
Immunodeficiency 9	Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Sialidosis Type 2	Hepatomegaly, Short stature, Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, Ascites	ORPHA:87876
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Vexas Syndrome	Macrocytic anemia, Chondritis of pinna, Nasal chondritis, Arthritis, Thrombocytopenia	OMIM:301054
Three M Syndrome 1	Mandibular prognathia, Short stature, Small for gestational age, Short neck, Hyperlordosis, Incre...	OMIM:273750
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli...	OMIM:608747
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Overlapping toe, Broad hallux, Hypogonadotropic hypogonadism, Microcyt...	ORPHA:293967
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Microcephaly, Amelogenesis imperfecta, Hypodontia, Limb hypertonia	OMIM:615905
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, ...	ORPHA:39041
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Anemia, Long philtrum	ORPHA:2598
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Cryptorchidis...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Cryptorchidis...	ORPHA:353277
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis, Abnor...	ORPHA:42642
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp...	OMIM:228000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Scoliosis	ORPHA:1548
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
Timothy Syndrome	Thin upper lip vermilion, Pneumonia, Bronchitis, Cutaneous syndactyly, Hypocalcemia, Microdontia	OMIM:601005
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, Atelectasis,...	OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Muscular dystrophy	OMIM:613152
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation...	ORPHA:1529
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Cryptor...	OMIM:258315
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Sinusitis, Pneumonia, Elevated circulating creatine kinase concentration, Abscess,...	ORPHA:36234
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ...	ORPHA:1354
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Microcep...	OMIM:612940
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Muscular dystrophy	OMIM:613158
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Short phi...	ORPHA:2429
Schaaf-Yang Syndrome	Mandibular prognathia, Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered f...	OMIM:615547
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Recurrent respiratory infections, Spl...	ORPHA:77261
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Microcephaly, Sp...	OMIM:301072
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Vertebral segmentation defect, High p...	ORPHA:263508
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short stature, Microcytic anemia, Micrognathia, Cryptorchidism, Short toe, Flexion contracture, H...	ORPHA:98791
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Long eyelashes...	OMIM:606407
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha...	OMIM:615630
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, ...	ORPHA:158061
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Small for gestational age, Proximal placement of thumb, Abnormality ...	ORPHA:94065
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Flat ac...	OMIM:151210
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m...	ORPHA:584
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Hip dysplasia, High palate, Scoliosis, Ar...	OMIM:611890
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h...	ORPHA:1190
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Congenital muscular dystrophy, Orofacial cleft	ORPHA:324416
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth...	OMIM:269920
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e...	ORPHA:2215
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de...	OMIM:616005
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reti...	ORPHA:508542
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Small hand,...	ORPHA:96184
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Microcephaly, Abnormal hand morphology, Generalized joint...	ORPHA:319171
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S...	OMIM:600373
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal...	ORPHA:2522
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Prolidase Deficiency	Hepatomegaly, Recurrent respiratory infections, Arachnodactyly, Micrognathia, Carious teeth, Sple...	ORPHA:742
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Decreased fertility, Hypodontia	ORPHA:1816
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Isolated Cleft Lip	Macrodontia, Small for gestational age, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, C...	ORPHA:2461
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat...	OMIM:222765
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
2P21 Microdeletion Syndrome	Failure to thrive, Long eyelashes, Hypocalcemia	ORPHA:163693
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Decreased circulating IgG level, Hypothyroidism, Autoimmune thromboc...	OMIM:614700
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype...	OMIM:615761
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s...	OMIM:609128
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Downturned corners of ...	OMIM:135500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Micrognathia, Growth ...	OMIM:600462
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue his...	OMIM:607616
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Short stature, Hepatoblastoma, Increased me...	ORPHA:84064
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Pulmonary artery stenosis, S...	ORPHA:902
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300009
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decre...	ORPHA:746
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Persistence of primary teeth, P...	OMIM:610253
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Postaxial polydacty...	OMIM:619721
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi...	OMIM:616395
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Macrocephaly, Narrow mouth, Malar flattening, Br...	ORPHA:261295
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
H Syndrome	Microcytic anemia, Alopecia, Short stature, Cleft upper lip, Gingival overgrowth, Hepatosplenomeg...	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Osteoporosis, Skelet...	OMIM:613327
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Flat capital femoral epiphysis, Short neck, Kyphosis, Joint stiffne...	OMIM:252605
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p...	OMIM:617926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Muscular Dystrophy, Cardiac Type	Muscular dystrophy	OMIM:309930
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,...	OMIM:184253
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm ...	ORPHA:543
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy	OMIM:613869
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, ...	ORPHA:369837
Gaucher Disease	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ...	ORPHA:355
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age, Microcephaly	OMIM:618302
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Pierre-Robin...	OMIM:619184
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Narrow mouth, Protruding tongue, Gingiva...	OMIM:230600
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Wormian bones, Short 4th metacarpal, Broad thum...	OMIM:619638
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Congenital hip dislocation, De...	ORPHA:96170
Autism Spectrum Disorder Due To Auts2 Deficiency	Short stature, Small for gestational age, Micrognathia, Kyphosis, Retrognathia, Congenital contra...	ORPHA:352490
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Severe short stature, Tapered finger, Joint stiffnes...	ORPHA:2746
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Cleft palate, Growth delay, Reduced number of intrahepatic bile ducts, Neut...	ORPHA:79284
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due ...	OMIM:259410
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Epicanthus, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiph...	ORPHA:1901
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p...	ORPHA:83471
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, ...	ORPHA:163654
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of ...	ORPHA:73230
Desmosterolosis	Relative macrocephaly, Epicanthus, Rhizomelia, Micrognathia, Microcephaly, Generalized osteoscler...	OMIM:602398
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he...	OMIM:268310
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture...	OMIM:619040
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ...	ORPHA:258
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the t...	ORPHA:733
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Decreased cir...	OMIM:620005
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla...	ORPHA:481152
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Telecanthus, Hypocalcemia, Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Small for gestational age, Failure to thrive in infancy, Cleft soft palate, Tapere...	ORPHA:268261
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Wormian bones, Dental crowding, Down-sloping shoulders, Coxa valga, Joint...	OMIM:248370
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ...	OMIM:263520
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Di...	OMIM:617808
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnorma...	ORPHA:319487
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Joint laxity, Adrenal hypoplasia, Micrognathia, Retrognathia, Growt...	OMIM:613177
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Delayed...	ORPHA:2962
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness, S...	OMIM:300266
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Masa Syndrome	Kyphosis, Hyperlordosis, Short stature, Adducted thumb	OMIM:303350
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Downturned corners of mouth, Thi...	ORPHA:2983
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Microcephaly, Cryptor...	ORPHA:85201
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent fractures, Dentinogenesis i...	OMIM:616507
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo...	OMIM:166210
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bow...	OMIM:618188
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, Progressiv...	OMIM:608612
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Abnormality of the spleen, Gingival overgrow...	ORPHA:1834
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Macrocephaly,...	OMIM:157980
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Short neck, Micrognathia, Metap...	OMIM:224400
Harrod Syndrome	Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili...	ORPHA:2115
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Blepharophimosis, Den...	ORPHA:3079
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology, Paget disease of bone, Elevated cir...	OMIM:167320
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sparse eyelashes, Palpebral edema, Micrognathia...	ORPHA:2067
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Synophrys, Clubbing, Hypochromic microcytic anemia, Hep...	ORPHA:96123
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Sotos Syndrome	Joint laxity, Pes planus, Mandibular prognathia, Sparse eyebrow, Cryptorchidism, High, narrow pal...	OMIM:117550
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Macrocephaly, Slender build	OMIM:300676
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Parathyroid hyperpla...	OMIM:617994
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta...	ORPHA:3219
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrod...	ORPHA:2916
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thin upper lip vermilion, Delayed cranial suture closure, Severe generalized ost...	OMIM:210730
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Epicanthus, Telecanthus, Micrognathia, Microcephaly, Cryptorchidism, ...	ORPHA:99812
Recon Progeroid Syndrome	Joint laxity, Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pro...	OMIM:620370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ...	OMIM:309520
Walker-Warburg Syndrome	Skeletal muscle atrophy, Microcephaly, Cryptorchidism, Submucous cleft hard palate, Cleft palate,...	ORPHA:899
Silver-Russell Syndrome	Relative macrocephaly, Decreased muscle mass, Sandal gap, Failure to thrive in infancy, Cachexia,...	ORPHA:813
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Microcephaly, Hi...	OMIM:619880
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, ...	ORPHA:284
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th...	ORPHA:906
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinova...	ORPHA:86822
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Microcephaly, Flexion...	OMIM:620001
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Farber Disease	Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm...	ORPHA:333
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cryptorchidism, Patellar ...	OMIM:613804
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-mi...	ORPHA:245
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papil...	ORPHA:97290
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly,...	OMIM:617591
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Galactose Epimerase Deficiency	Growth delay, Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Small for gestational age, Delayed eruption of primary teeth...	OMIM:133540
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617404
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Ankle ...	ORPHA:85408
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Joint stiffness...	OMIM:614008
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p...	ORPHA:2250
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Flexion contracture, Intrauterine growth retardation	OMIM:618237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, High, narrow palate, Split hand, Obesity, Scoliosis	OMIM:618124
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R...	ORPHA:828
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap...	ORPHA:3082
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, Narrow m...	ORPHA:3121
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE...	OMIM:606843
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Microcephaly	OMIM:617105
Familial Adenomatous Polyposis 1	Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Eruption failure, Odontoma, Small i...	OMIM:175100
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Short stature, Megaloblastic anemia, Abnormality of hair texture, Hypogonadism, Intrauterine grow...	ORPHA:79351
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Increased...	ORPHA:330015
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur...	ORPHA:1883
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Microcephaly, Cl...	OMIM:615948
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia, Hip dislocation, Testicular atrophy, Podagra	OMIM:300322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Talipes equinovaru...	OMIM:617865
Vascular Malformation, Primary Intraosseous	Diastasis recti, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Addison Disease	Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian in...	ORPHA:85138
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased p...	ORPHA:169154
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos...	OMIM:618484
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Micrognathia, Short distal phalanx of the 5th finger, Down...	OMIM:180860
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Microcephaly, Micrognathia, Small anterior fontanelle, Pr...	OMIM:617802
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Decreased circulating antibody level, Growth delay, Iron deficiency anemi...	OMIM:226300
Den Hoed-De Boer-Voisin Syndrome	Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Overweight, 2-3 toe syndacty...	OMIM:619229
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Mevalonic Aciduria	Normocytic hypoplastic anemia, Short stature, Fluctuating splenomegaly, Fluctuating hepatomegaly,...	OMIM:610377
Short Syndrome	Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Small for gestational age, Micrognat...	OMIM:269880
4H Leukodystrophy	Delayed eruption of teeth, Short stature, Abnormality of thyroid physiology, Decreased response t...	ORPHA:289494
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ulnar radial head dislo...	OMIM:264270
Emanuel Syndrome	Broad jaw, Torticollis, Congenital hip dislocation, Dental crowding, Delayed eruption of primary ...	OMIM:609029
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Glycerol Kinase Deficiency	Small for gestational age, Cryptorchidism, Osteoporosis, Downturned corners of mouth, Myopathy, M...	OMIM:307030
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Large fontanelles, Genu valgum, Joint hyperflexibility, Hy...	ORPHA:1778
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Micrognathia, Pancre...	ORPHA:280365
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu...	ORPHA:2804
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Scol...	OMIM:300337
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Emphysema, Synostosis ...	ORPHA:289
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia, Hepatomegaly	OMIM:613561
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of...	ORPHA:710
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, High palate, Scoliosis, Arthrogryposis multiplex conge...	ORPHA:178148
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepati...	OMIM:308240
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Recu...	OMIM:619281
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Decrea...	OMIM:615122
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Xylt1-Cdg	Relative macrocephaly, Hepatomegaly, Pes planus, Joint laxity, Coxa valga, Microcephaly, Synophry...	ORPHA:370930
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr...	OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder gi...	OMIM:607155
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis,...	ORPHA:3191
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Cardiomegaly, Limited elbow movement, ...	OMIM:300280
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scol...	ORPHA:2181
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hepatomegaly, Hypoplasia of t...	OMIM:607014
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Kyphosis, Hypoplasia of t...	ORPHA:90322
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Microcephaly, Lower lip pit, Hip dislocation, Dental mal...	OMIM:300867
Maternal Uniparental Disomy Of Chromosome 1	Delayed closure of the anterior fontanelle, Abnormal limb bone morphology, Downturned corners of ...	ORPHA:251009
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Wide mouth, Macroglossia, Recurrent aphthous sto...	OMIM:616260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM...	OMIM:614069
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Microcephaly, Myopathy, Muscular dystrophy, Increased endomysial connective tissue	OMIM:602541
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l...	ORPHA:508533
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Hepatomegaly, Short stature, Iron deficiency anemia, High palate, Hypothyroidism, F...	OMIM:607906
Silver-Russell Syndrome 2	Relative macrocephaly, Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndacty...	OMIM:618905
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Hepatomegaly, Delayed eruption of primary teeth, Microcep...	OMIM:216400
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Cleft upper lip, Hypoplasia of...	OMIM:305400
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Pneumonia, Elevated circulating creatine kinase concentr...	ORPHA:26793
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Syndactyly, Telecanthus, Cleft upper lip, Cryptorchidism, Preaxial ...	OMIM:603671
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hemivertebrae, Gonadotropin ...	OMIM:214800
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormality of the tonsils, Joint stiffness, Splenom...	ORPHA:579
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia, Arthritis	OMIM:601457
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Flexion contracture, B lymphocytopenia, Tongue fasciculations, Hypothyroidism	OMIM:619851
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Flexion contracture, Muscular dystrophy, Progressive microcephaly, Microcephaly	OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Achilles tendon contracture, Flexion contracture, Hamstring contra...	OMIM:310200
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary t...	ORPHA:79665
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, Synophrys, Downturned...	OMIM:122470
Wieacker-Wolff Syndrome	Short stature, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi...	OMIM:314580
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey...	ORPHA:381
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydactyly	OMIM:613819
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Short stature, Abnormality of neutrophils, White hair, Reduced bone mineral densi...	ORPHA:2720
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Joint stiffness, Genu val...	ORPHA:1295
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Microcephaly	OMIM:272300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteol...	OMIM:612852
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak...	OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de...	ORPHA:568
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Microcephaly, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy	ORPHA:369840
Craniosynostosis 4	Sagittal craniosynostosis, Macrocephaly, Pansynostosis, Lambdoidal craniosynostosis, Metopic syno...	OMIM:600775
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Pulmonary hypoplasia...	OMIM:620306
Neuraminidase Deficiency	Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph...	OMIM:256550
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv...	OMIM:614034
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Leukopenia, Emphysema, Hemolytic anemia, Hepato...	ORPHA:797
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Mandibular prognathia, Sandal gap, Short stature, Kyphosis, Thick lower lip vermili...	OMIM:300354
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Disproport...	OMIM:617425
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyph...	ORPHA:1005
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Supernumerary tooth, Osteoporosis, Failure to thrive, Ankyloglossia	OMIM:619525
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Wormian bones, Metaphyseal widening, Flexion contracture, Coxa vara, Fla...	OMIM:300232
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Cleft lip, Intrauterine growth retarda...	ORPHA:563609
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hyperflexibility	ORPHA:319199
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Small for gestational age, Rocker bottom foot, Primary microcephaly, Oro...	OMIM:618804
S-Adenosylhomocysteine Hydrolase Deficiency	Microcephaly, Failure to thrive, Muscular dystrophy, Abnormality of the dentition	ORPHA:88618
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Retrognathia, Postn...	OMIM:620157
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Stickler Syndrome, Type I	Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthri...	OMIM:108300
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Long fingers, Cryptorchidism, High, narrow palate, Hip dislocation, Positional foot...	ORPHA:96092
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r...	OMIM:610682
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight	ORPHA:93945
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Progressive microcephaly, W...	OMIM:618737
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Gm1 Gangliosidosis	Mandibular prognathia, Abnormal form of the vertebral bodies, Short stature, Hyperlordosis, Gingi...	ORPHA:354
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem...	OMIM:619142
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg...	OMIM:607115
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Decreased response to growth hormone stimulation test, Osteopo...	OMIM:602152
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Thin upper lip vermilion	OMIM:609384
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac...	OMIM:218000
4Q21 Microdeletion Syndrome	Toe syndactyly, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Short foot, Growt...	ORPHA:238750
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Limitation of joint mobility, Flexion contractur...	ORPHA:1545
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse...	ORPHA:2834
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Shallow orb...	ORPHA:798
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi...	OMIM:619131
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Deep philtrum, Wide anterior fontanel, Micro...	OMIM:606003
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Epicanthus inversus, Lobulated tongue, Accessory spleen, Syndactyly, Malf...	OMIM:249000
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy...	OMIM:614261
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Dental crowding, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Narrow mouth, Joi...	OMIM:615381
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Joint hypermo...	OMIM:300972
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Pterygium, Anisospondyly, Cryp...	ORPHA:1865
Thoracomelic Dysplasia	Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:1803
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Moebius Syndrome	Micrognathia, Congenital fibrosis of extraocular muscles, High palate, Lower limb undergrowth, Sh...	OMIM:157900
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhea, ...	ORPHA:2348
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Telecanthus, Micromelia, Microcephaly, Increased skull ossifi...	ORPHA:1422
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy	ORPHA:1344
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:236680
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Large fontanel...	OMIM:219150
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis	ORPHA:816
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Short st...	ORPHA:85293
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teeth, Microcephaly, ...	ORPHA:1786
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Downturned corners of mouth, Hepatic fibrosis, Hypocalcemia, Clino...	OMIM:243800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Cryptorchidism, Oligozoospermia, Azoospermia, Muscular dystrophy, ...	OMIM:300200
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Failure to thrive, Hypertriglyceridemia, Rick...	ORPHA:2088
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Period...	ORPHA:955
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Downturned corners of mouth, Short philtrum, Wormian bones, Brac...	OMIM:601224
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger, Hepatomegaly, Short st...	OMIM:618443
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, High p...	ORPHA:2479
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Isotretinoin-Like Syndrome	Microcephaly, Micrognathia, Cleft palate, Upslanted palpebral fissure, Hypocalcemia, Abnormality ...	ORPHA:2306
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Kyphoscoliosis, Sparse eyebrow, Elevated 8-d...	OMIM:302960
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral ...	ORPHA:2636
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Narrow mouth, Thick lower lip vermilion, Mesiodens, Macrocephaly, Long philtrum, Abnormal social ...	ORPHA:314647
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Large for gestational age, Tapered finger, Abnormality of the dentition, Microcephal...	ORPHA:261652
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Wide ...	OMIM:608776
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Eosinophilia, Camptodac...	ORPHA:464
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Velocardiofacial Syndrome	Hypoparathyroidism, Talipes, Microcephaly, Blepharophimosis, Cryptorchidism, Velopharyngeal insuf...	OMIM:192430
Kleefstra Syndrome 2	Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula	OMIM:617768
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym...	OMIM:618935
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal dental enamel morphology, Hypocalcemia, Delayed eruption of teeth	ORPHA:2238
Menkes Disease	Joint laxity, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Osteoporosis, Wormian bones	OMIM:309400
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Intrauterine growth reta...	ORPHA:858
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Joint stiffness, Mediastinal lymphadenopathy, Splenomegaly, Osteo...	ORPHA:809
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowing, Flared lower...	OMIM:616462
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility	ORPHA:93476
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Recurrent upper respiratory tract infe...	OMIM:619769
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Microcephaly, Carious teeth, Downturned corners of mouth, Hypoplasia of th...	ORPHA:1110
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Short philtrum, Abnormal bone ossific...	ORPHA:79324
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t...	ORPHA:2457
Acro-Renal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Abnormal lung lobation, Orofacial cleft, High palate, Short philtrum...	ORPHA:958
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Uln...	OMIM:619135
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Joint stiffness, Micrognathia, Contracture ...	OMIM:607015
Dubowitz Syndrome	Aplastic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Decreased circulating...	OMIM:223370
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Delayed closure of the anterior fontan...	OMIM:225410
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Short stature, Thoracolumbar kyphoscoliosis, Proximal placemen...	OMIM:212066
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased specific antibody response to polysaccharide vac...	OMIM:241600
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Hypophosphatemia, Parathyroid adenoma, Ge...	ORPHA:99879
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, ...	ORPHA:540
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Split hand, Foot polydactyly, Phocomelia	ORPHA:3004
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion...	OMIM:269500
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Obesity,...	ORPHA:251004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Macrocephaly, Retrognathia, Muscular dystrophy, Adducted thumb	OMIM:614643
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, ...	OMIM:304790
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, Hepatic fibrosis, High palate, Microdontia, Synd...	OMIM:614091
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowdi...	ORPHA:37553
Free Sialic Acid Storage Disease	Reduced bone mineral density, Splenomegaly, Ascites, Hepatomegaly	ORPHA:834
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Micrognathia, Microcephaly, Osteolysis, Cleft palate, Muscular dystrophy, Clino...	ORPHA:1052
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mout...	ORPHA:314679
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th...	ORPHA:904
Fg Syndrome Type 1	Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Abnormal socia...	ORPHA:93932
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Micrognathia, Microcephal...	OMIM:247200
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Large for gestat...	ORPHA:77301
White-Sutton Syndrome	Joint laxity, Overfriendliness, Mandibular prognathia, Facial hypotonia, Congenital diaphragmatic...	OMIM:616364
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of...	ORPHA:531151
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Obesity, Cleft...	ORPHA:254346
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Macrocephaly, Malar flattening, Absent ex...	OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy	OMIM:615181
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Hip dysp...	ORPHA:2655
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Monosomy 13Q34	Pes planus, Epicanthus, Hypercalcemia, Micrognathia, Microcephaly, Postaxial hand polydactyly, Ob...	ORPHA:96168
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Cryp...	ORPHA:2588
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Thrombocytopenia	OMIM:614857
Acatalasemia	Premature loss of permanent teeth, Severe periodontitis, Microcytic anemia, Oral ulcer, Gingiviti...	ORPHA:926
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Broad eyebrow, Hepatomegaly, Neutrophilia, Overlapping toe, Severe periodo...	ORPHA:99843
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short ph...	OMIM:619297
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Short stature, Thrombocytopenia, Metaphyseal widening, Exocrine ...	OMIM:617941
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Flared iliac...	ORPHA:79255
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Bronchitis, Follicular hyperp...	OMIM:619381
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Achi...	OMIM:301041
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Microcephaly, Cleft palate, Skeletal muscle hypertrophy, Macroglossia, Congenita...	OMIM:613150
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
D-Bifunctional Protein Deficiency	Osteopenia, Decreased muscle mass, Micrognathia, Split hand, Large fontanelles, Retrognathia, Mac...	OMIM:261515
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Abn...	ORPHA:2315
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, High palate, Hypocalcemia, Bifid uvula, Long philtrum, Joint laxity, Long ...	OMIM:620330
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Marinesco-Sjogren Syndrome	Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Sco...	OMIM:248800
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturne...	ORPHA:79500
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal...	ORPHA:85199
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Sandal gap, Craniosynostosis, Short hallux, Tapered finger, Hypoplasia ...	OMIM:608156
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Dense calvaria	OMIM:252920
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus,...	ORPHA:436252
Crouzon Syndrome	Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis	ORPHA:207
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog...	ORPHA:324737
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, High palate, Small for gestational age, Advanced eruption of teeth	OMIM:262190
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Pancr...	OMIM:602782
Trigonocephaly 1	Craniosynostosis, Microcephaly, High, narrow palate, Metopic synostosis, Long philtrum	OMIM:190440
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo...	ORPHA:392
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Abnormal metacarpal morphol...	ORPHA:2095
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat...	OMIM:618291
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Clubbing, Osteoporosis, Osteolytic defects...	OMIM:259100
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Leukocytos...	ORPHA:544482
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Wide ante...	OMIM:614886
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta...	OMIM:300990
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Laron Syndrome	Delayed menarche, Short long bone, Severe short stature	OMIM:262500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Ptosis, Decreased response to growth hormone stimulation test, Highly ...	OMIM:615866
Toluene Embryopathy	Micrognathia, Tapered finger, Microcephaly, Cryptorchidism, Thin vermilion border, Hypoplasia of ...	ORPHA:1920
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo...	OMIM:615966
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Microcephaly, Right unilambdoid synostosis, Bic...	OMIM:616602
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism	OMIM:203330
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content	OMIM:261750
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystro...	ORPHA:3162
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Dista...	OMIM:108145
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing...	OMIM:619951
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ...	OMIM:308230
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Thrombocytopenia, Jaundice, Growth delay, Neutropenia, Stomatitis, Intraute...	ORPHA:79282
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clin...	OMIM:280000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Retrognathia, High palate, Neutropeni...	OMIM:618005
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Short stature,...	ORPHA:1667
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteo...	OMIM:235200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Smooth philtrum, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingi...	ORPHA:33226
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Low posterior hairline, N...	OMIM:611881
Baralle-Macken Syndrome	Kyphosis, Obesity, High, narrow palate, Tapered finger	OMIM:619255
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Hypophosphatemia, Macroceph...	OMIM:612089
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Short stature, Absent pubertal growth spurt, Kyphosis, Hip dislocation, Obesity, Downturned corne...	ORPHA:464282
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Recurrent sinusitis	ORPHA:217390
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Arachnodactyly, Sandal gap, Short stature, Dental crowding, Carious teeth, Kypho...	OMIM:617602
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Decreased muscle mass, Dental crowding, Micrognathia, Cryptorc...	OMIM:130720
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, Wormian bones, Mala...	OMIM:601853
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Bone cyst, Fl...	ORPHA:3042
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolat...	OMIM:230500
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short...	OMIM:231050
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Abnormality of the lower limb, Rickets, Hypophosphate...	OMIM:193100
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Abnormality of the dentition, Deep...	OMIM:615398
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly	ORPHA:3085
Parietal Foramina 1	Wormian bones, Macrocephaly, Cleft palate, Cleft upper lip	OMIM:168500
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Pneumonia, Abscess, Abnormality of the spleen, Mediastinal lymphaden...	ORPHA:228123
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Microcytic anemia	OMIM:618811
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Vertebral fusion	OMIM:618845
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Truncal obesity,...	ORPHA:2928
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypogonadotropic hypogonadism, Hypodontia	ORPHA:447896
Opsismodysplasia	Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Long philtrum,...	OMIM:258480
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,...	OMIM:619418
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me...	OMIM:619652
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality ...	ORPHA:391487
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal edema, Hypoalbuminemia, ...	OMIM:277900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia o...	ORPHA:794
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick verm...	OMIM:616455
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets, Bowing of the legs	OMIM:615605
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Short philtrum, Hypochromic anemia, Microcytic anemia	OMIM:618451
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Rocker bottom foot, Craniosynostosis, Coxa valga, Microcephaly, Crypto...	OMIM:301056
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia	OMIM:618805
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Failure to thrive, Ptosis	OMIM:560000
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Microcephaly, Hip dislocation, Talipes equinovarus, Wormian bones, Dela...	OMIM:616603
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p...	ORPHA:2789
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Ant...	OMIM:164745
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint mobility, Arthritis,...	ORPHA:1416
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Bifid uvula, Broad...	OMIM:620186
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Thick lowe...	ORPHA:560
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Short stature, Malar flattening, Kyphosis, Narrow palate, Sh...	ORPHA:364028
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda...	OMIM:255200
Marden-Walker Syndrome	Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Micrognathia, High, narrow pa...	OMIM:248700
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ...	ORPHA:228396
Trisomy 17P	Skeletal muscle atrophy, Prominent metopic ridge, Micrognathia, Tapered finger, Microcephaly, Fle...	ORPHA:261290
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Normochromic micr...	OMIM:610198
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi...	OMIM:226990
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94090
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Isolated Sedoheptulokinase Deficiency	Short stature, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anemia...	ORPHA:440713
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Graft Versus Host Disease	Dupuytren contracture, Pneumonia, Limited elbow movement, Trismus, Jaundice, Stiff interphalangea...	ORPHA:39812
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Low posterior hairline, Thin lower lip vermilion, Decreased proportion of CD4-positiv...	ORPHA:221139
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Abnormal palate morp...	ORPHA:93262
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Rickets	OMIM:619232
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Foot joint contracture, Delayed eruption of primary teeth, A...	ORPHA:90321
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Micro...	ORPHA:521445
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Facial hypotonia, Postaxial po...	OMIM:616362
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Ric...	OMIM:219800
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide mouth, Macrogl...	OMIM:105830
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol...	OMIM:612651
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Wide anterior font...	OMIM:275210
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 ver...	OMIM:617190
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Multiple prenatal fractures, Nar...	OMIM:618644
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc...	OMIM:600740
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Microcephaly, Abnormal toe morp...	ORPHA:404448
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy...	ORPHA:3392
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly	OMIM:252900
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Typical Nemaline Myopathy	Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocation, Micro...	ORPHA:171436
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath...	ORPHA:85414
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Rocker bottom foot, Acanthocytosis, Micrognathia, Flexion contracture, Hip dis...	OMIM:618947
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Toe syn...	OMIM:200980
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Microcephal...	ORPHA:2995
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High pa...	ORPHA:85212
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal ...	ORPHA:75233
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Thrombocytopenia, Pos...	OMIM:612199
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Sandal gap, Short stature, Small hand, Pineal cyst, Short foot, Iron ...	OMIM:618885
Kagami-Ogata Syndrome	Diastasis recti, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contr...	OMIM:608149
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Cystinosis	Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive	ORPHA:213
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi...	ORPHA:1860
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Icf Syndrome	Short stature, Abnormality of neutrophils, Micrognathia, Protruding tongue, Decreased circulating...	ORPHA:2268
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossi...	ORPHA:79107
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bila...	OMIM:619557
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
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ...	ORPHA:357058
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Long...	ORPHA:935
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Relative macrocephaly, Joint laxity, Epicanthus, Large for gestational age, Crypto...	OMIM:607721
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine...	OMIM:605039
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Poikil...	OMIM:615234
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Short stature, Hypodontia	OMIM:616029
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
Multiple Endocrine Neoplasia Type 2	Joint laxity, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyperplasia, Cervical ...	ORPHA:653
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia	ORPHA:2309
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Alg9-Cdg	Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone ossification, S...	ORPHA:79328
Weill-Marchesani Syndrome 1	Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Broad skull, Narrow palate, Broad p...	OMIM:277600
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Microcephaly, Metatarsus adductus, Hypoplasia of the max...	ORPHA:293939
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone...	OMIM:615633
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Decreased muscle mass, Narrow joint spaces of the elbow, Small...	ORPHA:96182
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Syndactyly, Short stature, Acromicria, Osteo...	OMIM:176270
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J...	OMIM:603553
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge...	ORPHA:2311
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteolysis, Larg...	ORPHA:90153
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur...	ORPHA:769
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Splenomegaly, Everted lower lip vermilion, Dense calvaria	OMIM:252930
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodacty...	ORPHA:158687
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Sagit...	OMIM:610199
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Microcephaly, Deep philtrum, Retrogn...	ORPHA:1675
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Cryptorchidism, Short long bone...	OMIM:224410
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Microcephaly, C...	ORPHA:1465
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Nail dystrophy, B...	OMIM:615190
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
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat...	ORPHA:536532
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis	OMIM:300752
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Abnormal sacroilia...	ORPHA:32960
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone, Macrocephaly	ORPHA:2835
Poikiloderma With Neutropenia	Joint laxity, Short stature, Joint stiffness, Micrognathia, Splenomegaly, Carious teeth, Growth d...	OMIM:604173
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j...	ORPHA:199276
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Microcytic anemia	ORPHA:79278
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin...	OMIM:602535
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Short stature, Splenomegaly, Jaundice,...	OMIM:263700
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi...	OMIM:164900
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abn...	ORPHA:93274
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m...	ORPHA:3472
Fraser Syndrome 2	Narrow mouth, Hypoplasia of the thymus, Low anterior hairline, Cutaneous syndactyly	OMIM:617666
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Conical t...	OMIM:308300
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, Ac...	OMIM:620351
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Splenomegaly, Lymphadenopathy, Amelogenesis imperfect...	ORPHA:169090
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Congenital diaphragmatic he...	ORPHA:2745
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Hypoplastic vertebr...	ORPHA:3455
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, High, narrow palate, Cryp...	ORPHA:1968
Glycogen Storage Disease Ixc	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ...	OMIM:613027
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Enlarged kidney	OMIM:618272
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Postaxial hand polydactyly, Abnormal mesentery morphology, Abnormality of...	ORPHA:2075
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal palate morphology, Macrocephaly	ORPHA:1506
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Cdags Syndrome	Sagittal craniosynostosis, Large fontanelles, Cleft palate, Short clavicles, Lambdoidal craniosyn...	OMIM:603116
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, ...	OMIM:123790
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemi...	ORPHA:358
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Hyperhidrosis, Short stature, Microcytic anemia	OMIM:612073
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis	OMIM:610475
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Oral ulcer, Iron deficiency ...	OMIM:301074
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Trisomy 10P	Thumb contracture, Decreased muscle mass, Wide cranial sutures, Small for gestational age, Microg...	ORPHA:171929
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration	OMIM:607748
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Deep philtrum, 2-3 toe s...	ORPHA:404440
Cockayne Syndrome	Hepatomegaly, Abnormal dental morphology, Cachexia, Delayed eruption of primary teeth, Carious te...	ORPHA:191
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Shor...	OMIM:608328
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe cutaneous syndacty...	OMIM:129400
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis, Flexion cont...	ORPHA:314588
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:143
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Sandal gap, Dental crowding, Tapered finger, Micrognathia, Kyphosis, 2-...	OMIM:617061
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Short stature, Abnormal dental enamel morphology, Abnormality o...	ORPHA:96169
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Klippel-Trénaunay Syndrome	Hepatomegaly, Ascites, Abnormality of the menstrual cycle, Microcytic anemia	ORPHA:90308
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Ost...	OMIM:232220
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation...	ORPHA:293843
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Abnorma...	OMIM:146510
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Split...	ORPHA:989
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Micrognathia, Biliary hy...	ORPHA:83617
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature, Hyperinsulinemia	ORPHA:66518
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Macrocephaly	OMIM:616538
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:300861
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d...	ORPHA:652
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic...	OMIM:617159
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Congenital contracture...	OMIM:236670
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Hepatomegaly, Short stature...	ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iq	Hypertrichosis, Microcytic anemia	OMIM:612379
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Kyphosis, Postaxial ...	ORPHA:3378
Hennekam-Beemer Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Thick lower lip vermilion, High palate, Clin...	ORPHA:2135
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Torticollis, Broad hallux, High, narrow palate, C...	ORPHA:276432
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Short stature, Clef...	OMIM:610443
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Postnatal growth retardat...	OMIM:265050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Cryptorchidism, Narrow palate, Cleft palate, Tooth agenesis, Hypoplasia of the ...	ORPHA:1555
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Joint hyperflexibility, Hypoplas...	ORPHA:2715
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Recurrent upper respiratory tra...	OMIM:618183
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Proximal placement of thumb, Limited elbow movement, Micrognathia, Downturned corners of mouth, H...	OMIM:610759
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Aphthous ulcer, Oral...	OMIM:615688
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Cryptorchidism, Abnormal fibula morphology, Cleft ...	ORPHA:1812
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Lar...	OMIM:213980
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration pneumonia, ...	ORPHA:173
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Prominent fingertip pads, Syndactyly,...	OMIM:305450
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary capillary he...	ORPHA:199241
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia...	OMIM:619488
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral density, C...	ORPHA:138
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short...	OMIM:616894
Cornelia De Lange Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, Synophrys, Downturned corners of mouth, Wi...	ORPHA:199
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Xerostomia, Thyroiditis, Biliary cirrhosi...	ORPHA:289390
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the...	OMIM:266920
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Mi...	ORPHA:565
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal ...	OMIM:618050
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesi...	OMIM:618493
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Ca...	ORPHA:357074
Dermatitis Herpetiformis	Recurrent fractures, Microcytic anemia	ORPHA:1656
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Unilateral cleft palate, Craniosynostosi...	ORPHA:1299
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Tented upper lip vermilion, Overlapping toe, Flexion contracture, High palate, Thick vermilion bo...	OMIM:619383
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Kyphosis, Cleft lip, Cleft palate, Abdominal situs inversus, Camptodactyl...	OMIM:619123
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, Skeletal muscle atrophy, Tented upper lip vermilion, Prominent ...	ORPHA:488632
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Rocker bottom foot, Micrognathia, Metatarsus adductus, High, narrow ...	OMIM:214100
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Primary adrenal insuf...	OMIM:530000
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Microcephaly, Postaxial...	OMIM:610829
15Q14 Microdeletion Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, L...	ORPHA:261190
3C Syndrome	Finger syndactyly, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Micrognathi...	ORPHA:7
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating luteinizing hormon...	OMIM:609441
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ...	OMIM:620133
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Lowe Oculocerebrorenal Syndrome	Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulating creatine kinase...	OMIM:309000
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc...	OMIM:180849
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma, Recurrent p...	OMIM:145001
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Joint stiffne...	OMIM:619127
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Limited elbow movement, Micrognathia, Hypopl...	OMIM:261540
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi...	ORPHA:1724
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity	OMIM:219080
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly...	OMIM:305600
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia, Arachnodactyly, Congenital contracture	OMIM:619036
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology...	ORPHA:1071
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased response to g...	ORPHA:293978
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:99880
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Everted lo...	ORPHA:93474
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Microcytic anemia	OMIM:618972
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Thin upper lip vermilion, Short neck, Postnatal gro...	OMIM:300966
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Dysgammaglobulinemia, S...	OMIM:251260
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A...	ORPHA:2396
Glycogen Storage Disease Ixa1	Growth delay, Splenomegaly, Hepatomegaly	OMIM:306000
Acromelic Frontonasal Dysplasia	Telecanthus, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia...	ORPHA:1827
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro...	OMIM:617827
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Joint laxity, Media...	OMIM:194050
Sialidosis Type 1	Short stature, Splenomegaly, Kyphosis, Thick lower lip vermilion, Abnormal form of the vertebral ...	ORPHA:812
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scoliosis	OMIM:609008
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h...	OMIM:269200
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
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt...	ORPHA:288
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, High palate, Short philtrum, Proximal placement of thumb	OMIM:615433
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Elevated circulating C-reactive prote...	ORPHA:50918
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Ectodermal Dysplasia With Adrenal Cyst	Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Delayed eruption of ...	OMIM:129550
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the...	OMIM:135900
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Microcytic anemia, Macroglossia, Neutropenia, Hypothyroidism	OMIM:251900
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Rett Syndrome	Short stature, Cachexia, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis	OMIM:312750
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Craniosynostosis, Postaxial polydactyly, Sagittal crani...	OMIM:616580
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepa...	OMIM:307200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Osteoporosis, Hepatocell...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arth...	OMIM:619423
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera...	ORPHA:352665
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Oral ul...	OMIM:260920
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodactyly, High pal...	OMIM:276820
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh...	OMIM:601847
Curry-Jones Syndrome	Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Lip pit, Preaxial hand polydac...	OMIM:601707
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, ...	ORPHA:251061
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Avascular necrosis of the capital f...	ORPHA:247691
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd...	OMIM:106260
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth...	OMIM:619841
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly	OMIM:181405
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Small for gestational age, Wide anterior fontanel, Prematur...	ORPHA:488437
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy...	OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Everted lower lip vermilion, Sh...	OMIM:601499
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull...	ORPHA:1662
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepat...	ORPHA:264580
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Short stature, Kyphosis, Flexion contracture, Small hand, O...	ORPHA:398069
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Bloom Syndrome	Syndactyly, Small for gestational age, Microcephaly, Decreased fertility in females, Cryptorchidi...	OMIM:210900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:261552
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi...	ORPHA:54028
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Gonadotropin deficiency, Abnormal lung lobation, Bifid ...	ORPHA:672
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Increased head circumference, Abnormal ...	ORPHA:821
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Limitation of joint mobility, Lymphadenopathy, Growth delay, Arthritis...	ORPHA:343
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary hypoplasia, Abnormal cartilage matrix	OMIM:245650
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Mandibular prognathia, Pelvic girdle muscle atrophy, Hypoplasia of the maxilla...	ORPHA:3044
Atypical Rett Syndrome	Kyphosis, Small hand, Short foot, Growth delay, Scoliosis	ORPHA:3095
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98855
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Anhidrosis, Conical tooth, Splenomegaly, Defective production of...	OMIM:612132
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Craniosynostosis, Fibular aplasia	OMIM:218550
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l...	OMIM:619194
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Proximal placement of thumb, Micrognathia, Kyphosis, Wide mouth, Hip dysplasia, ...	ORPHA:261250
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Hypochromic anemia, Joint hemorr...	ORPHA:99147
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon...	ORPHA:98863
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Delayed cranial suture closure, Tapered finger, ...	OMIM:601088
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Cryptorchidism, Cleft palate...	ORPHA:453499
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Barth Syndrome	Mandibular prognathia, Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocy...	OMIM:302060
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Short stature, Abnormality of the dentition, Kyphosis, Gi...	OMIM:203800
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemia	OMIM:616026
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Growth delay, Macroglossia, Everted ...	ORPHA:261144
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	OMIM:167730
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Goldberg-Shprintzen Syndrome	Tapered finger, Hypoplasia of the maxilla, Microcephaly, Increased femoral anteversion, Small han...	OMIM:609460
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia...	ORPHA:3027
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim...	ORPHA:2796
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, Narrow mouth,...	ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy...	ORPHA:464738
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Kyphosis, Increa...	OMIM:619005
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Narrow mouth, Hypochromic microcytic anemia, Growth delay, Long philtrum, Hypothyroidism, Anemia	OMIM:619147
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia	OMIM:613388
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Obesity, Narrow mouth	ORPHA:261222
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Epicanthus, Transient neutropenia, Chronic neutropenia, Long foot, Large for gestational age, Abn...	ORPHA:500095
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr...	ORPHA:2911
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Classic Homocystinuria	Hepatomegaly, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffness, Kyphosis, Os...	ORPHA:394
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Zttk Syndrome	Relative macrocephaly, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla,...	OMIM:617140
Papa Syndrome	Type I diabetes mellitus, Arthritis, Limitation of joint mobility, Lymphadenopathy	ORPHA:69126
Noonan Syndrome 14	Short stature, Short neck, Kyphosis, High, narrow palate, Wide mouth, Thick vermilion border, Lon...	OMIM:619745
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Cubitus valgus, Premature os...	OMIM:611962
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normoc...	ORPHA:66634
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormal eyelid mo...	ORPHA:449563
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Pulmonary edema	ORPHA:31826
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ...	ORPHA:1101
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture...	OMIM:259050
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Thin vermilion border, Hypoplasia of the zygoma...	OMIM:614800
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compres...	OMIM:219090
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Intrauterine growth reta...	OMIM:618775
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:90674
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Muscular dystrophy, Oral mucosal blisters	ORPHA:158684
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
X-Linked Mandibulofacial Dysostosis	Microcephaly, Micrognathia, Cryptorchidism, Branchial anomaly, Hypoplasia of the zygomatic bone, ...	ORPHA:1131
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl...	ORPHA:2152
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Cardiomegaly, Microvesicular hepatic...	OMIM:300855
Keutel Syndrome	Recurrent sinusitis, Short stature, Calcification of cartilage, Short distal phalanx of finger	ORPHA:85202
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Yunis-Varon Syndrome	Congenital hip dislocation, Micrognathia, Short metatarsal, Short philtrum, Absent hallux, High p...	OMIM:216340
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98853
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Microcephaly, Hydrocele testis, Hypopla...	OMIM:613603
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Kyphosis...	ORPHA:79329
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Weight loss, Iron deficiency anemia, Keratoconjunctivitis si...	ORPHA:309031
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed tongue, Hydrocele tes...	OMIM:615108
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
X-Linked Intellectual Disability, Snyder Type	Long toe, Mandibular prognathia, Arachnodactyly, Short stature, Kyphoscoliosis, Recurrent fractur...	ORPHA:3063
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent p...	OMIM:306400
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,...	OMIM:304150
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Bilateral trilo...	OMIM:306955
Lathosterolosis	Prominent metopic ridge, Toe syndactyly, Micrognathia, Microcephaly, Postaxial hand polydactyly, ...	ORPHA:46059
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ca...	ORPHA:558
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna...	ORPHA:521426
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ...	ORPHA:405
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Small for gestational age, Enlarged joints, Persistence of prima...	ORPHA:2044
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Micrognathia, Flexion contracture, Knee flexion contracture, Downturne...	OMIM:300868
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity	OMIM:610489
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Small for ge...	OMIM:601678
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Sh...	OMIM:617337
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Facial hypotonia, Ulnar deviation of the wrist, Micro...	ORPHA:97297
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Congenital muscular dystrophy	OMIM:253800
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, ...	ORPHA:500055
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:95409
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin...	ORPHA:169805
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed tongue, Hydrocele tes...	OMIM:615109
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Deformed humerus, Mandibular cond...	ORPHA:2975
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Mandibular prognathia, Arachnodactyly, Facial hypotonia, Large for gestational age,...	ORPHA:457359
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Overlapping toe, Dental crowding, Hypoplasia of the maxilla,...	OMIM:617402
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia	ORPHA:782
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Short hard palate, Genu varum	ORPHA:1969
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Kyphosis...	OMIM:616914
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t...	ORPHA:18
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leukopenia, G...	ORPHA:520
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto...	OMIM:230800
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria	OMIM:259900
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladde...	ORPHA:349
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Malt Lymphoma	Recurrent respiratory infections, Abnormal nasolacrimal system morphology, Mediastinal lymphadeno...	ORPHA:52417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microcephaly, Micrognathia, Everted lower lip vermilion, Muscular dystrophy, Malar flattening	OMIM:253280
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Microcephal...	OMIM:606170
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ...	OMIM:608233
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Cleft pal...	OMIM:165590
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hepatic calcification, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Pulmonary edema	ORPHA:73224
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, High, narrow palate, Thick l...	OMIM:162300
Becker Nevus Syndrome	Kyphosis, Abnormal tibia morphology, Spina bifida occulta, Scoliosis	ORPHA:64755
Micro Syndrome	Short stature, Joint stiffness, Micrognathia, Kyphosis, High palate, Short philtrum, Scoliosis, D...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Dental crowding, Short stature, Delayed eruption of primary teeth, Growth delay, Wide...	OMIM:617799
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recurrent pneumo...	OMIM:617718
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Thrombocytopenia, Osteoporosis, L...	OMIM:222700
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Failure to thrive, Hypercalcemia	OMIM:239199
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Iron defic...	ORPHA:100075
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hypoplasia of the z...	OMIM:613717
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Abnormal morphology of ulna, Cryptorchidism, Submucous cleft hard p...	ORPHA:1340
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,...	OMIM:303600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers...	OMIM:617527
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym...	ORPHA:379
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Clubbing, Biliary tract abnormality, Oral melanotic ma...	OMIM:175200
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Abnormality of the thyroid gland, Re...	ORPHA:449432
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Growth delay,...	ORPHA:2232
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ...	ORPHA:881
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Failure to thrive, Malar flattening, Delayed cranial suture closure	OMIM:613038
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Truncus Arteriosus	Cardiomegaly, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the extremities, In...	ORPHA:3384
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, Cardiomegaly, Kyphosis, High, narro...	OMIM:300967
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:276152
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner...	ORPHA:444077
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Scoliosis, Triangular mouth, Failure to thrive, Joint hypermobility	OMIM:617988
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl...	ORPHA:264450
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Tented upper lip vermilion, Micrognathia...	OMIM:601803
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Holoprosencephaly	Median cleft lip, Failure to thrive in infancy, Bilateral cleft lip, Median cleft lip and palate,...	ORPHA:2162
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High pal...	OMIM:616449
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Recu...	OMIM:601495
Coffin-Siris Syndrome 12	Joint laxity, Facial palsy, Micrognathia, Microcephaly, Short thumb, Slender finger, Velopharynge...	OMIM:619325
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert...	OMIM:619479
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed tongue, Hydrocele tes...	OMIM:158350
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microcephaly	ORPHA:2399
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia, Increased body weight	ORPHA:94086
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Wormian bones, Abnormality of the dentition, Elbow dislocation, Abnormality of...	ORPHA:285
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy	ORPHA:300751
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Thin upper lip vermilion, Joint dislocation, Arachnodactyly, Dia...	OMIM:601776
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl...	OMIM:613610
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate...	OMIM:616482
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Lon...	OMIM:300960
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepato...	ORPHA:171
6Q Terminal Deletion Syndrome	Hallux valgus, Joint laxity, Prominent metopic ridge, Micrognathia, High, narrow palate, Obesity,...	ORPHA:75857
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Postnatal growth retardation, Sple...	OMIM:613563
Mend Syndrome	Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Asymmetry of the mouth...	ORPHA:401973
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Oral ulcer, Lymphadenopathy, Leukopenia, Arthritis, Microangiopathic hemolytic anemi...	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Kyphosis, Flexion contracture, Hepatic fibros...	OMIM:212065
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Highly arched eyebrow, Cryptorchidism, Short toe, Orofacial cleft, Thi...	ORPHA:1519
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Autoimmune...	ORPHA:77293
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Generalized h...	ORPHA:744
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia	OMIM:112200
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Cleft palate, Parathyroid hypoplasia, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hy...	ORPHA:95159
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Malar flattening...	OMIM:609944
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Delayed cranial suture closure, Tapered finger, Microcephaly, Cryptorchidism, Ob...	OMIM:618653
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Short stature, Kyphosis, Vacuolated lymphocytes, Thick lower lip verm...	OMIM:208400
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Small for gestational age, Hypoplasia of the zy...	ORPHA:556955
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Mandibular prognathia, Arachnodactyly, Hyperlordosis, Large for gestational age, Ky...	OMIM:617011
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis	OMIM:612918
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Hydrocele testis, Impotence, Retrograde ejaculation, Rheumatoid arthritis, Has...	ORPHA:49041
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Widely spaced teeth, High palate, Clinodactyly of the 5th fi...	OMIM:612474
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Tibial Hemimelia	Absent tibia	OMIM:275220
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Joint stiffness, Abnormality of the dentition, Splenomegaly,...	ORPHA:93
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis, Failure to thrive	ORPHA:58
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Chikungunya	Joint stiffness, Periostitis, Cervical lymphadenopathy, Osteolysis, Synovitis, Enthesitis, Lympha...	ORPHA:324625
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Intrauterine growth retardation	OMIM:619909
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Hypogonadotropic hypogonadism, Overweight, Delayed proximal femoral e...	ORPHA:226307
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Anemia, Downturned co...	OMIM:620185
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis	OMIM:145980
Cerebrocostomandibular Syndrome	Short stature, Tracheomalacia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly o...	ORPHA:1393
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis	OMIM:145981
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt...	ORPHA:167
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypercalcemia, Weight loss	ORPHA:276621
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ...	ORPHA:51608
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Diabetes me...	OMIM:608594
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic hypogonadism,...	OMIM:129900
Reactive Arthritis	Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Enthesitis, We...	ORPHA:29207
Cowden Syndrome	Short stature, Enlarged polycystic ovaries, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, H...	ORPHA:201
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Micrognathia, Abnormality of canine, Early balding, Low posterior hairline...	ORPHA:261584
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo...	ORPHA:79277
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Inc...	ORPHA:100078
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Small for gestation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Small for gestation...	ORPHA:363958
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Overlapping fingers, Lymphopenia, Absent uvula	OMIM:619708
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion bo...	ORPHA:920
Aceruloplasminemia	Refractory anemia, Diabetes mellitus, Abnormal pancreas morphology, Hypochromic microcytic anemia...	ORPHA:48818
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Elevated he...	OMIM:269700
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Brain abscess, Liver abscess, Clubbing	ORPHA:2038
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Hepatitis, Thyroiditis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Smooth philtrum, Relative macrocephaly, Arachnodactyly, Failure to thrive in infancy, Sagittal cr...	ORPHA:500150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis...	ORPHA:464311
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Weight loss, H...	ORPHA:3337
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma, Weight loss, Retinal capi...	ORPHA:29072
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Multiple joint contractures, Small ...	ORPHA:464306
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Failure to thrive	ORPHA:411629
Q Fever	Hepatomegaly, Osteomyelitis, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosp...	ORPHA:781
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingival bleeding...	OMIM:153670
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy...	ORPHA:1333
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel...	OMIM:276700
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long...	OMIM:619244
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Microcephaly, Hypoplasia of the zygomatic bone, High palate, Long phil...	OMIM:618500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic hypogonadism,...	OMIM:604292
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis	ORPHA:774
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm,...	OMIM:312870
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Long philt...	ORPHA:2211
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Microcephaly, Cryptorchidism, Obesity, Short foot, Myop...	ORPHA:1606
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Ulbright-Hodes Syndrome	Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpal, Cryptorch...	ORPHA:3404
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Knee osteoarthri...	ORPHA:2035
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Microcephaly, Hip dislocation, Talipes equinovarus, Wo...	ORPHA:90348
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Adrenocorti...	ORPHA:139411
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis, Decreased body w...	OMIM:182210
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis	OMIM:211530
Familial Mediterranean Fever	Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lymphadenopathy, Arthritis, Oral leukoplakia...	ORPHA:342
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ...	OMIM:619475
Cockayne Syndrome Type 3	Hepatomegaly, Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis, Flexion c...	ORPHA:90324
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Short upper lip, Wide mouth, Cutaneous finger syndactyly, Hypop...	OMIM:200110
Postencephalitic Parkinsonism	Kyphosis, Open mouth, Camptocormia	ORPHA:97349
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Chronic myelogenous l...	ORPHA:636
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Branchiooculofacial Syndrome	Facial palsy, Proximal placement of thumb, Micrognathia, Cleft upper lip, Short thumb, Preaxial h...	OMIM:113620
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High palate, High, narrow palate, Scoliosis	OMIM:177850
Systemic Lupus Erythematosus	Hemolytic anemia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Muscular dystrophy	OMIM:615287
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Hypohidrosis, Breast aplasia, Type I dia...	ORPHA:2036
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Microcephaly, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologi...	ORPHA:90349
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, Microcephaly, High, narrow ...	OMIM:309800
Acromegaly	Mandibular prognathia, Broad jaw, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyp...	ORPHA:963
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyp...	ORPHA:314769
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth	OMIM:300942
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormal dental e...	ORPHA:2273
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Stiff neck, Parotitis, Orchitis, Sp...	ORPHA:99827
Mowat-Wilson Syndrome	Delayed eruption of teeth, Microcephaly, Cryptorchidism, Submucous cleft hard palate, Generalized...	OMIM:235730
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Hemivertebrae...	ORPHA:1112
Viss Syndrome	Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul...	OMIM:619472
Medulloblastoma	Progressive macrocephaly, Delayed cranial suture closure	ORPHA:616
Rett Syndrome, Congenital Variant	Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:613454
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Hypodontia, Mic...	OMIM:180500
Eisenmenger Syndrome	Brain abscess, Hepatomegaly, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia, Abn...	ORPHA:97214
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft...	OMIM:164210
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Lymphedema-Distichiasis Syndrome	Kyphosis, Cleft palate, Cleft upper lip, Micrognathia	OMIM:153400
Blau Syndrome	Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Synovitis, Lymphadenopathy, ...	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ...	ORPHA:79078
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Gingivitis, Hepatic fibrosis, Hepatic steatosis,...	ORPHA:64
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482

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 Tnfsf11

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 Tnfsf11.

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

Title	Journal	IMPC Allele	PubMed ID
The Tumor Necrosis Factor Superfamily Member RANKL Suppresses Effector Cytokine Production in Group 3 Innate Lymphoid Cells.	Immunity (May 2018)	Tnfsf11^{tm1c(EUCOMM)Wtsi} Tnfsf11^{tm1a(EUCOMM)Wtsi}	29858011

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tnfsf11^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tnfsf11^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tnfsf11^{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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