Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
colony stimulating factor 1 (macrophage)
Synonyms:
BAP025,  Csfm,  M-CSF,  CSF-1,  colony-stimulating factor-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Csf1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Csf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Cranio... OMIM:259700
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Osteoglosphonic Dysplasia
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, D... ORPHA:2645
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... OMIM:619795
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor... ORPHA:2204
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... ORPHA:53
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Short philtrum, De... ORPHA:71267
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal... OMIM:610967
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ... OMIM:300604
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper... ORPHA:281
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... OMIM:259730
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Increased bone mineral density, Short s... OMIM:259720
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism, Abnormality of the dentition OMIM:615269
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... OMIM:613849
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Fa... ORPHA:2780
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Ck Syndrome
Dental crowding, Micrognathia, Abnormal digit morphology, Retrognathia, High palate, Malar flatte... OMIM:300831
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Marbach-Rustad Progeroid Syndrome
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... OMIM:619322
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Short stature, Metaphyseal widening, ... OMIM:184260
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... ORPHA:251623
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retar... OMIM:618541
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... ORPHA:163971
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Premature loss of teeth, Th... OMIM:174810
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... OMIM:617306
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Open bite, Joint hyperflexibility, Abnorma... ORPHA:2097
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Hi... OMIM:147060
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:277440
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Desmosterolosis
Increased bone mineral density, Severe short stature, Micrognathia, Metatarsus adductus, Splenome... ORPHA:35107
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ... OMIM:259440
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Proteus Syndrome
Splenomegaly, Open mouth, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial h... OMIM:176920
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... ORPHA:566943
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn... ORPHA:667
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... ORPHA:73
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,... ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating creatine k... OMIM:614727
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... ORPHA:89936
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:264700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... ORPHA:2232
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Osteomalacia, Premature loss of primary teeth, Abnormality of... ORPHA:93160
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, ... ORPHA:90796
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Abnormal facial skeleton... ORPHA:562
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... OMIM:618107
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Short stat... ORPHA:2785
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... ORPHA:289157
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Mandibular prognathia, Recurrent fractures, Postnatal growth retardation, Delayed ske... ORPHA:2324
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Growth delay, Os... OMIM:612301
Winchester Syndrome
Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Gen... OMIM:277950
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures, Tongue fasciculations ORPHA:329475
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Bilat... ORPHA:2958
49,Xxxyy Syndrome
Eunuchoid habitus, Mandibular prognathia, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... OMIM:614841
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... ORPHA:2484
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Prieto Syndrome
11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Osteoporosis, Talipes... OMIM:309610
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
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
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari... ORPHA:251510
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the dentition, Rickets, Hypophosphatemia, Hypophospha... OMIM:193100
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Decreased serum es... ORPHA:2959
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemia, Hypocalcemia, Hy... ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the wrists, Delayed epi... OMIM:600081
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay, Decreased body weight, Thrombocytopenia OMIM:613606
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa... ORPHA:37748
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Micr... ORPHA:99330
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Osteoporosis, Delayed puberty OMIM:615271
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Metaphyseal widening, Craniofacial oste... OMIM:618476
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Delayed eruption of teeth, Short stature, Camptodacty... OMIM:612350
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... ORPHA:2410
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... OMIM:612463
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Cleft p... OMIM:620210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, High palate, Amelogenesis i... OMIM:618363
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Hypothyroidism, Increased circ... ORPHA:465508
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi... OMIM:226990
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Osteopor... OMIM:103580
Hall-Riggs Syndrome
Metaphyseal dysplasia, Delayed skeletal maturation, Thick lower lip vermilion, Osteoporosis, Micr... OMIM:234250
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Short stature, Conical tooth, Osteoporosis, Male hypogonadism, H... OMIM:618625
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Avascular... OMIM:190351
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... ORPHA:221016
Autosomal Recessive Primary Microcephaly
Growth delay, Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature ORPHA:2512
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... OMIM:224300
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en... ORPHA:1133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing of... OMIM:241530
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Protruding tongue, Patent ductus arterio... OMIM:230600
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short stature, Elevated circulating thyroid-stimulat... OMIM:612462
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... ORPHA:3019
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... ORPHA:79445
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Coxa vara, Inc... OMIM:610968
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ... ORPHA:486
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... OMIM:122860
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Cry... ORPHA:408
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... ORPHA:1782
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... ORPHA:221008
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Gingival fibroma... OMIM:228600
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Abnormality of the tongue, Hepatic amyloidosis, Wrist pain, Patholo... ORPHA:314652
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... ORPHA:3409
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... ORPHA:137834
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation OMIM:600252
Juvenile Paget Disease
Bowing of the long bones, Short stature, Recurrent fractures, Abnormality of the dentition, Crani... ORPHA:2801
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... ORPHA:2788
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Bowing of the long bones, Hip contracture, Severe short stature, ... OMIM:156400
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Lethal Recessive Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Macroglossia, Short lo... ORPHA:1423
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Decreased circulating IgG level... ORPHA:79330
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:320401
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow... ORPHA:73272
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Increased susceptibility to f... OMIM:241500
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... ORPHA:313855
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ane Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis ORPHA:101006
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, G... ORPHA:561
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro... OMIM:112240
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... ORPHA:157215
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Enlargeme... OMIM:300554
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Lower limb pain, Diaphyseal... OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral d... OMIM:166220
Warburg Micro Syndrome 1
Overlapping toe, Short stature, Micrognathia, Cryptorchidism, Osteoporosis, Wide nasal bridge, Th... OMIM:600118
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Solitary Bone Cyst
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... ORPHA:83468
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Short ... ORPHA:93299
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... ORPHA:289176
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Abnormal dental morphology, Osteomalacia, Camptodactyly of fing... ORPHA:2176
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Melorheostosis
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... ORPHA:2485
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... OMIM:615066
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Dentinogenesis imperfecta, Hip d... OMIM:616507
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... OMIM:269300
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa... OMIM:214150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Short stature, Osteoporosis, Primary amenorrhea, Delayed thelarc... OMIM:616033
Diastrophic Dysplasia
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... ORPHA:628
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing OMIM:126550
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogon... OMIM:308700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet... OMIM:610947
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... OMIM:619269
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... OMIM:613848
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Perrault Syndrome 1
Short stature, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, High p... OMIM:233400
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Small hand... ORPHA:2796
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth... ORPHA:3464
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno... ORPHA:93315
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Wide anterior fontane... OMIM:614886
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Abnormality of the dentition, Osteoporosis, Absence of pubertal development, Hypogona... OMIM:615267
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, ... ORPHA:52430
Pycnodysostosis
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... OMIM:265800
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Short stature, Coxa valga, Patent ductus art... ORPHA:166272
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Failure to thrive, Short stature, Hepatocellular carcinoma, Hyperlipide... ORPHA:369
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosy... ORPHA:2314
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Abnorma... ORPHA:3121
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Delayed skeletal maturation, Hip osteoarthritis, Joint ... ORPHA:63442
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Metaphyseal dysplasia, Abnormal dental morphology, Short stature, Micrognathia, Fract... ORPHA:319195
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Ost... OMIM:259450
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangie... OMIM:616006
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... ORPHA:79230
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora... OMIM:602080
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... ORPHA:420561
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t... OMIM:612394
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Long hallux, Increased... OMIM:259775
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the lymphatic system, Abnormal forearm bon... ORPHA:2583
Usher Syndrome, Type I
Sensorineural hearing impairment, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Osteoporosis
Osteoporosis OMIM:166710
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Hypoplas... OMIM:615349
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Thrombocytopenia, Pos... OMIM:612199
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Malar prominence, Microgna... ORPHA:48431
Chondrodysplasia, Blomstrand Type
Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, F... OMIM:215045
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... OMIM:166200
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hy... ORPHA:213
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Failure... ORPHA:79301
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flattened epiph... ORPHA:163649
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Decreased serum insulin-like growth factor 1, Short stature, Cryptorchidism, 2... ORPHA:314389
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Abnormality of the dentition... ORPHA:576283
Geroderma Osteodysplastica
Mandibular prognathia, Severe short stature, Recurrent fractures, Hip dislocation, Osteoporosis, ... ORPHA:2078
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho... ORPHA:811
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A... OMIM:617952
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Slender long bone, Hypoplastic spl... OMIM:602361
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central ... ORPHA:453533
Sanjad-Sakati Syndrome
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... ORPHA:2323
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Short palm, Failure of eruption of permanent teeth, To... ORPHA:3238
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... ORPHA:251028
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 5th metacarpal, Short 4th metacarp... OMIM:619638
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Mulibrey Nanism
Hepatomegaly, Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplas... OMIM:253250
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Primary amenorrhea, Small pi... OMIM:614880
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Dec... OMIM:182250
Hamamy Syndrome
Osteopenia, Microcytic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long to... OMIM:611174
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... OMIM:620099
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Krabbe Disease
Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Decreased nerve conduction ... OMIM:245200
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Dent Disease 1
Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Enlargeme... OMIM:300009
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hypogeusia, Decreased serum zinc, Alopecia of scalp, Hypogonadism, Decreased serum ... OMIM:201100
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... ORPHA:1798
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Abnormal metaphysis morphology ORPHA:417
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... OMIM:619752
Cockayne Syndrome B
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:133540
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia ORPHA:1237
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac... ORPHA:666
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... OMIM:218400
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... ORPHA:2563
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse ... ORPHA:3044
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... OMIM:609220
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:216400
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... OMIM:617052
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Mandibular prognathia, Osteoporosis OMIM:619971
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Joint hyperflexibility, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated cir... OMIM:612089
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Reduced bone mineral density, Thin vermilion border, Abnormal metaca... ORPHA:2370
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... OMIM:612714
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Greenberg Dysplasia
Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi... OMIM:215140
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Xp22.13P22.2 Duplication Syndrome
Short stature, Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, P... ORPHA:284180
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short 3rd metacarpal, Limb undergrowth, Short... OMIM:118651
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... OMIM:614078
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Cryptorchidism, Supernu... OMIM:619718
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abnormal fibula morphology, ... ORPHA:2063
Acrootoocular Syndrome
Decreased palmar creases, Abnormal finger flexion crease, Decreased response to growth hormone st... ORPHA:2980
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parat... OMIM:613388
Maffucci Syndrome
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosis ORPHA:163634
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... ORPHA:99429
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Fail... ORPHA:2088
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Delayed skeleta... OMIM:614450
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Abnormal electroretinogram, Optic atrophy, EEG abnormality, Low... ORPHA:2971
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Schwartz-Jampel Syndrome, Type 1
Elevated circulating creatine kinase concentration, Micromelia, Bowing of the legs, Micrognathia,... OMIM:255800
12Q14 Microdeletion Syndrome
Short stature, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Downturned corners of mo... ORPHA:94063
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, P... OMIM:210900
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ... ORPHA:93296
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Osteoporosis, Cleft palate, Clinodactyly, Decreased tes... OMIM:614838
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Short stature, Eosinophilia, Pos... ORPHA:353298
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Short stature, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, ... ORPHA:3145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... OMIM:616809
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... ORPHA:536467
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogona... ORPHA:79444
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Hepatom... ORPHA:1775
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... OMIM:113300
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Craniosynostosis, Absen... ORPHA:166035
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
H Syndrome
Hallux valgus, Short stature, Recurrent fractures, Microcytic anemia, Cleft upper lip, Delayed sk... ORPHA:168569
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T ce... ORPHA:98813
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Short stature, Cortical su... ORPHA:94089
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia ... ORPHA:247768
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Delayed skeletal maturation, Downturned corners of mouth, Abnormal epiphysi... ORPHA:2643
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:143
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathi... ORPHA:476126
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal electroretinogram... ORPHA:1933
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... OMIM:239000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Short stature... ORPHA:79259
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Disproportionate short-limb short stature, Decreased calvarial ossif... OMIM:259410
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Canavan Disease
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:141
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Abnormality of visual evoked potenti... OMIM:256600
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... OMIM:610682
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Single transverse palmar crease, Elevated circulating creatine kinase concentratio... OMIM:619743
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Abnormal toe morphol... OMIM:163200
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Recurrent fractures... ORPHA:3206
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... OMIM:619377
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Short stature ORPHA:2786
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Reduced bone mineral density, Delayed ossification of c... OMIM:618392
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b... OMIM:620269
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Bilateral cryptorchi... ORPHA:2409
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutaneous finger synd... OMIM:211380
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Short stature, Splenomegaly, Jaundice,... OMIM:263700
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... ORPHA:534
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation... OMIM:272440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... OMIM:617994
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... ORPHA:77261
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Arth... ORPHA:2771
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:99880
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosi... OMIM:257200
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Optic atrophy OMIM:165510
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Delayed o... OMIM:617974
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... ORPHA:91347
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Bilateral single transverse palmar creases, Short stature, Abnormality ... ORPHA:502
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... ORPHA:95716
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, High iliac wi... ORPHA:50814
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... OMIM:166210
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Disproportionate s... ORPHA:2772
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis OMIM:618234
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor OMIM:616390
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo... ORPHA:955
Ruijs-Aalfs Syndrome
Short stature, Single transverse palmar crease, Micrognathia, Elbow flexion contracture, Osteopor... OMIM:616200
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Large for gestational age, Metaphyseal widening, Thick lo... OMIM:239850
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Fibrous dysplasia of the bones, Abnormal femur morphology, Abnor... ORPHA:352540
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Disproportionate sh... OMIM:619131
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... OMIM:211600
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora,... ORPHA:2510
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulati... OMIM:235200
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, EEG with abnormally slow frequencies, Abnormality of pattern visual evoked pot... ORPHA:1947
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, High palate, Short palm, Microdontia, Short stature, Short t... OMIM:268400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... OMIM:610628
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Br... OMIM:609465
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Developmental And Epileptic Encephalopathy 3
Abnormality